RENAL TUMORS OF CHILDHOOD: RADIOLOGIC-PATHOLOGIC CORRELATION PART 1.

THE 1ST
DECADE

Wilms tumor is the second most common pediatric solid tumor and by far the most common
renal tumor of infants and young children. As most tumors are large at presentation and are
treated with nephrectomy, the role of imaging is primarily in preoperative planning and
evaluation for metastatic disease. However, with treatment protocols increasingly involving use
of preoperative (neoadjuvant) chemotherapy (the standard in Europe) and consideration of
nephron-sparing surgery, the role of imaging is evolving to include providing initial disease
staging information and a presumptive diagnosis to guide therapy. Differential diagnostic
considerations include lesions that are clinically benign and others that require more intensive
therapy than is used to treat Wilms tumor. In part 1 of this article, the unique histologic spectrum
of renal neoplasms of infants and young children is reviewed with emphasis on radiologic
pathologic correlation. Part 2 will focus on renal tumors of older children and adolescents.

TEACHING POINTS

Evaluation for invasion of adjacent organs, involvement of regional lymph nodes, involvement
of the other kidney, spread to the peritoneum, and metastatic disease should be undertaken.
Screening of the contralateral kidney is important, as the finding of a synchronous lesion alters
the therapeutic approach. Examination of the renal vein and IVC is also important.

Rhabdoid tumor has an established association with brain tumors, particularly in the posterior
fossa. In addition, the finding of subcapsular hemorrhage suggests rhabdoid tumor; however,
since Wilms tumor is so much more common, a tumor with this finding is more likely to be a
Wilms tumor than a rhabdoid tumor.

In cystic nephroma and CPDN, the only solid portions are the thin fibrous septa between the
loculi, and solid nodules are notably absent. The size of the loculi varies from a few millimeters
to 4 cm in diameter, and they are filled with colorless fluid or thick myxoid material. The tumor
may herniate into the collecting system.

Although Wilms tumor is the most common pediatric renal tumor and is indistinguishable from
cellular CMN at imaging, CMN is more common in young infants. On the other hand, if there are
bilateral tumors, venous invasion, or pulmonary metastases, Wilms tumor is more likely.

The imaging features of CCSK are nonspecific and shared with other primary renal tumors,
particularly Wilms tumor, which is much more common. On the other hand, if present, bone
metastases would indicate CCSK rather than Wilms tumor.

Introduction

The renal tumors affecting infants and young children are distinct from those that arise in older
children and adults. These tumors originate from renal precursor tissue, known as metanephros,
or from mesenchymal tissue. The most common renal neoplasm in the pediatric population is
Wilms tumor, or nephroblastoma. Some Wilms tumors arise in the setting of persistent
metanephric tissue known as nephrogenic rests or nephroblastomatosis. Other renal tumors
cannot be reliably distinguished from Wilms tumor at imaging, but some features may suggest
an alternative diagnosis. Cystic nephroma and cystic partially differentiated nephroblastoma
(CPDN) are radiographically identical renal tumors that are now considered to represent the
benign end of a spectrum of differentiation of neoplasms of metanephric origin that includes
Wilms tumor. The distinguishing feature of these tumors is that they are entirely cystic with the
exception of thin septa. Ossifying renal tumor of infancy (ORTI), also thought to originate from
nephrogenic rests, herniates into the renal pelvis and mimics a staghorn calculus in appearance.
Tumors of mesenchymal origin include mesoblastic nephroma, the most common renal tumor
of the neonate. Clear cell sarcoma of the kidney (CCSK) is known for its propensity to metastasize
to bone, a rare location for Wilms tumor metastasis. Renal rhabdoid tumor is distinctive due to
its association with synchronous intracranial tumors. Knowledge of the pathologic and imaging
features of the unique spectrum of tumors of this age group allows the radiologist to provide
useful information to help guide management (Table 1).
WILMS TUMOR
Wilms tumor arises from mesodermal precursors of the renal parenchyma known as
metanephros and accounts for at least 90% of pediatric renal tumors. In the United States, there
are approximately seven to eight cases of Wilms tumor per million children younger than 15
years annually, with the total number of new cases estimated at about 500 per year.
Approximately 75%–80% of cases occur in children younger than 5 years of age, with a peak
incidence at age 2–3 years. Perinatal diagnosis of Wilms tumor is possible, although it is not the
most common tumor in this age group. Diagnosis of Wilms tumor after age 15 years is rare.
Wilms tumor is typically found as an asymptomatic abdominal mass often discovered by a
parent. Signs and symptoms such as malaise, pain, hypertension, and microscopic or gross
hematuria are found in approximately 20%–30% of children.

Pathologic Features

The majority of Wilms tumors are solitary lesions, but almost 12% of patients develop multifocal
tumors within one kidney and approximately 7% demonstrate synchronous or metachronous
bilateral renal tumors. At gross inspection, the tumor is usually well circumscribed or
macrolobulated (Fig 1). Central necrosis and hemorrhage are common findings (Fig 2). The most
common Wilms tumor histology is the triphasic appearance consisting of stromal, epithelial, and
blastemal elements that recapitulates the development of normal kidney (Fig 1). Not all tumors
are triphasic; biphasic and monophasic Wilms tumors also occur. Tumors consisting of only
blastemal elements resemble other small round cell tumors such as neuroblastoma. The term
teratoid Wilms tumor may be applied if there is differentiation along tissue lines not normally
found in the kidney, such as muscle, osteoid, or cartilage. Fat may also be detected.
Approximately 10% of Wilms tumors show anaplastic histology, which is considered unfavorable
and correlates with a poor prognosis.

Figure 1. Wilms tumor in a 12-week-old infant. (a) Bivalved nephrectomy specimen shows a
yellow-tan soft cut surface with small foci of hemorrhage. Arrow = adjacent kidney. (b)
Photomicrograph shows the triphasic pattern of Wilms tumor. Nests of small round to ovoid
hyperchromatic cells represent the blastemal component (B). Epithelial elements form tubular
and glomeruloid elements (arrowheads). Surrounding these components is an immature spindle
cell stroma (S). (Hematoxylin-eosin [H-E] stain; original magnification, ×40.) (c) Longitudinal US
image shows a large circumscribed tumor of fairly homogeneous echotexture (*), which is
slightly hypoechoic compared with the cortex of the adjacent kidney (arrow).

Figure 2. Wilms tumor with unfavorable histology in a 2-year-old girl. (a) Sectioned nephrectomy
specimen shows a white-tan soft fleshy tumor with small foci of hemorrhage (arrow), necrosis
(arrowhead), and cyst formation (*). (b) Axial T2-weighted image shows the tumor surrounded
by a dark capsule (arrow). The internal signal is heterogeneous with areas that are isointense to
adjacent parenchyma (K), hypointense areas corresponding to hemorrhage (arrowhead), and
fluid-signal-intensity cysts. (c) Axial T1-weighted image shows that the tumor is isointense to
renal parenchyma with hyperintense areas representing hemorrhage (arrowhead). (d) Axial T1-
weighted image with fat saturation after intravenous administration of gadolinium contrast
material shows diffuse enhancement of the mass with nonenhancing areas of hemorrhagic
necrosis (arrowhead).

Imaging Features

Screening for suspected abdominal tumor is performed with US, but US is operator-dependent
with a limited field of view in addition to other technical limitations. Further evaluation with
magnetic resonance (MR) imaging or computed tomography (CT) is generally necessary for
optimal staging and operative planning. CT is readily available and fast so that sedation is not
required, but these benefits must be balanced with the risk of exposure to ionizing radiation. In
accordance with the “as low as reasonably achievable” (ALARA) principle, the dose should be
minimized with a size-appropriate technique. In general, all the necessary information can be
gleaned with images obtained during the portal venous phase of enhancement, and multiphase
imaging is generally not necessary. MR imaging does not involve the risk of ionizing radiation,
but in this age group, sedation or general anesthesia is required. Recent literature has shown
that there are likely some effects of anesthesia on the developing brain, and further study is
required to determine the risks.

The appearance of Wilms tumor at US is variable (Fig 1). Usually, the tumor is heterogeneous
with hypoechoic and anechoic areas representing hemorrhage, necrosis, and cysts. Shadowing
echogenic calcifications are seen in 9% of patients. US combined with color Doppler imaging is
a sensitive modality to evaluate for tumor spread into the inferior vena cava (IVC).

At CT, the tumor usually appears as a large, heterogeneous, intrarenal mass that enhances less
than the adjacent normal renal parenchyma (Fig 3). Hypoattenuating foci of necrosis and old
hemorrhage are common, and fat attenuation may also be seen. A macrolobulated appearance
and satellite nodules may be noted. Calcifications are seen in approximately 15% of Wilms
tumors at CT.

At MR imaging, the tumor is typically heterogeneous, lobulated, and hypointense compared

with the kidney on T1-weighted images and hyper- or isointense on T2-weighted images. Foci of
increased signal intensity on T1-weighted images representing hemorrhage may be observed
(Fig 2). After intravenous administration of gadolinium contrast material, the tumor enhances
less avidly than the adjacent kidney. Uncommonly, extension of the tumor into the renal vein,
IVC, or even the right heart may be seen (Fig 3).

Fluorine 18 fluorodeoxyglucose (FDG) positron emission tomography (PET) is a developing

modality important in staging and posttreatment evaluation of some adult and other childhood
tumors, but the role of FDG PET in Wilms tumor is still being elucidated. Primary and metastatic
Wilms tumors have been shown to be FDG-avid. Currently, FDG PET does not have a role in the
initial diagnostic staging of Wilms tumor, but this modality can add clinically important
information about response to neoadjuvant chemotherapy and may be useful to direct biopsy
to areas of active tumor activity. Higher maximum standardized uptake value (SUVmax) has
been found in poor responders compared with good responders to chemotherapy and in tumors
with anaplastic histology, which is resistant to standard Wilms tumor therapeutic regimens. FDG
PET can also add information about active residual or recurrent disease over anatomic cross-
sectional imaging studies.

Figure 3. Wilms tumor with rhabdomyomatous differentiation in a 12-year-old boy. (a) Axial
postcontrast CT image shows a partially circumscribed slightly heterogeneous tumor (straight
white arrow), which is hypoattenuating compared with enhancing renal cortex (curved arrow).
Hypoattenuating tumor thrombus surrounded by contrast material is seen in the IVC
(arrowhead). Also note the enlarged regional lymph node (black arrow). (b) Oblique sagittal
image from pulmonary embolism CT shows hypoattenuating tumor thrombus in the right
ventricle (arrow) and left lower lobe pulmonary artery (arrowhead).

Tumor Staging

In the United States, tumor staging remains surgical, but as therapy continues to evolve,
preoperative imaging evaluation is becoming increasingly important. The North American
National Wilms Tumor Study Group (NWTSG) staging system has been adopted by the Children’s
Oncology Group (COG) (Table 2). In Europe, the staging system of the Société Internationale
d’Oncologie Pédiatrique (SIOP) is used (Table 3). The SIOP system is nearly identical to the
NWTSG system except that masses that have been biopsied may be considered stage I or II in
SIOP protocols, whereas biopsy of the tumor is considered to increase the stage to III in the
NWTSG system. For bilateral disease, each kidney is staged separately for determination of
treatment and prognosis.
Evaluation for invasion of adjacent organs, involvement of regional lymph nodes, involvement
of the other kidney, spread to the peritoneum, and metastatic disease should be undertaken.
Screening of the contralateral kidney is important, as the finding of a synchronous lesion alters
the therapeutic approach. Examination of the renal vein and IVC is also important. Four percent
to 10% of Wilms tumors extend into the renal vein and IVC, a finding that affects surgical
planning. Diagnosis of tumor rupture is important in staging and therapy planning but
challenging preoperatively. Findings suggesting tumor rupture are poorly defined tumor
margins, perinephric fat stranding, retroperitoneal fluid, ipsilateral pleural effusion, and
peritoneal fluid extending beyond the cul-de-sac. MR imaging and CT show similar diagnostic
performance in local staging, although MR imaging is more sensitive for contralateral
synchronous lesions and is considered the most sensitive modality for evaluation for venous
tumor extension.

The tumor metastasizes to lung (85% of cases), liver (20%), and rarely to bone. The use of chest
radiography versus CT for evaluation for lung metastases at diagnosis remains controversial.
Historically, chest radiography has been used, so treatment and outcome studies have been
based on radiographic data. CT is more sensitive for small nodules, but some of these represent
benign disease, and they are often too small to biopsy or to be detected with FDG PET. In a study
by Smets et al evaluating patients with metastases limited to the lung and visible only at CT, no
difference in outcome was found between those treated with therapy for localized disease and
those treated for metastatic disease. CT is advised for those with unfavorable histology or stage
III disease.

Differential Diagnosis

The most important differential diagnostic consideration is neuroblastoma, a common tumor

arising in a similar location in the same age group. Although neuroblastoma can invade the
kidney or rarely arise in the kidney and Wilms tumor can rarely arise in extrarenal sites,
determining the organ of origin generally helps in developing an appropriate differential
diagnosis. Renal origin is suggested by the “claw sign” of renal parenchyma surrounding the
tumor, whereas tumors of the adrenal gland displace the kidney. Other features that suggest
neuroblastoma rather than Wilms tumor include calcification (80%–90% of neuroblastoma cases
at CT vs 15% of Wilms tumor cases), tumor encasement of vessels (vs invasion for Wilms tumor),
tumor crossing the midline particularly behind the aorta, extension through neural foramina into
the spinal canal, and skeletal metastases.

Age is the most important consideration in formulating a differential diagnosis for a renal mass.
In a young child, Wilms tumor is the most likely diagnosis. Associated renal vein extension is
highly suggestive of Wilms tumor, but this finding may also occur with renal cell carcinoma, the
second most common renal tumor of childhood. Renal cell carcinoma becomes more common
than Wilms tumor in children during the 2nd decade of life. Wilms tumor can occur in fetuses
and neonates, but in this age group congenital mesoblastic nephroma (CMN) is more likely.
Other less common renal tumors that occur in young children are generally indistinguishable
from Wilms tumor at imaging, but some features may suggest an alternate diagnosis. Clear cell
sarcoma may show early skeletal metastasis, a site that is rare for Wilms tumor. Rhabdoid tumor
has an established association with brain tumors, particularly in the posterior fossa. In addition,
the finding of subcapsular hemorrhage suggests rhabdoid tumor; however, since Wilms tumor
is so much more common, a tumor with this finding is more likely to be a Wilms tumor than a
rhabdoid tumor.

An additional differential diagnostic consideration is an infectious process mimicking a tumor.

Pyelonephritis can be focal and may exert mass effect on adjacent kidney, in which case it has
been called acute bacterial nephritis. Because the kidney is a vascular organ with high flow, even
infection enhances or perfuses less than adjacent parenchyma, similar to a tumor. Renal abscess
has a similar imaging appearance to a tumor with central necrosis or cyst formation. Additional
features suggesting infection such as fever, flank pain (vs Wilms tumor, which is painless), and
urinary symptoms, as well as imaging findings of striated enhancement or wedge-shaped areas
of decreased enhancement in the adjacent parenchyma, help distinguish infection from tumor.

Management and Prognosis

The treatment of Wilms tumor varies throughout the world. Complete nephrectomy remains
the mainstay of treatment of unilateral Wilms tumor; however, the roles of neoadjuvant
chemotherapy and biopsy vary. In the United States, according to NWTSG protocols, primary
surgery is followed by chemotherapy and sometimes radiation therapy. On the other hand, in
Europe, where SIOP protocols are followed, preoperative chemotherapy is used to decrease the
risk of intraoperative tumor rupture and hemorrhage and to decrease the stage of the tumor at
the time of surgery. The drawbacks of this approach are lack of initial staging information and
lack of a definitive diagnosis at the time of initiation of treatment. Thus, the role of imaging in
these two systems is different. In the United States, imaging is used to screen for distant
metastases and to plan the surgery in which staging will be performed, but in Europe, imaging
is used to determine the initial disease stage and to provide a presumptive diagnosis to guide
therapeutic decisions.

Similarly, the role of biopsy is different. In the United States, biopsy is not necessary, as the
resected specimen will provide for a definitive pathologic diagnosis. Anaplastic histology may be
focal and missed due to sampling error in biopsies. Further, according to NWTSG protocols,
surgical biopsy is considered to represent local tumor spillage. In Europe, biopsy is generally not
pursued and the chemotherapy is given based on the clinical and radiologic diagnosis. In the
United Kingdom, biopsy is performed before initiation of chemotherapy because the risk of an
incorrect presumptive diagnosis is about 5.7%– 12%. Some of these misdiagnoses represent
benign tumors that do not require chemotherapy, and others are malignancies that require
different chemotherapy regimens. On the other hand, anaplastic histology can be missed at
biopsy due to sampling error.

For bilateral disease or tumor involving a solitary or horseshoe kidney, partial nephrectomy is
considered to preserve renal function. Preoperative chemotherapy is important to reduce the
extent of surgery. Nephron-sparing surgery is also being evaluated as an alternative to total
nephrectomy in patients with unilateral tumors, particularly those with predisposing
syndromes. Preservation of nephrons must be weighed against the risk of positive margins or
tumor spillage.

The long-term prognosis of Wilms tumor has greatly improved over the past few decades, and
the 5-year survival rate for disease localized to the abdomen now exceeds 90%. Overall survival
is 70% for stage IV disease. Recurrence risk is largely dependent on histology. Early recurrence
(within 2 years) occurs in 15% of tumors with favorable histology versus 50% of those with
anaplastic histology. Anaplastic histology is associated with resistance to chemotherapy and
poor prognosis. Long-term Wilms tumor survivors remain at risk for development of a secondary
malignancy, congestive heart failure related to doxorubicin therapy, respiratory compromise
due to radiation therapy, renal failure, and hypertension.

NEPHROBLASTOMATOSIS

Nephrogenic rests are foci of persistent embryonal renal tissue, or metanephric blastema, in the
kidney after 36 weeks of gestation. Multiple or diffuse nephrogenic rests are known as
nephroblastomatosis. Nephrogenic rests are found in up to 40% of kidneys resected for Wilms
tumor compared with 1% in infant autopsies. They are considered a precursor lesion for Wilms
tumor, and nephrogenic rests account for 30%–40% of Wilms tumors and nearly all bilateral
Wilms tumors. Nephrogenic rests are associated with a variety of genetic syndromes. In general,
syndrome-associated Wilms tumors occur in younger patients (median age at diagnosis, 12–15
months) and are more likely to be bilateral (38% vs 5%).
Molecular Genetics

Approximately 10% of patients with Wilms tumors have a predisposing genetic condition, and
abnormalities of several genes have been implicated. Mutations or deletions of the Wilms tumor
1 gene (WT1), located on the short arm of chromosome 11 (11p13), account for the majority of
syndromic Wilms tumors. WT1 is a classic tumor suppressor gene and encodes a zinc finger
transcription factor that is important in both kidney and gonadal development. WT1 defects
cause a wide range of phenotypic abnormalities that include Wilms tumor, renal dysfunction,
and genitourinary anomalies. Associated conditions include sporadic aniridia with or without
WAGR syndrome (Wilms tumor, aniridia, genitourinary abnormalities including ambiguous
genitalia in males, and mental retardation) and Denys-Drash syndrome (Wilms tumor, male
pseudohermaphroditism, and progressive glomerulonephritis).

Wilms tumor gene 2 (WT2) is also localized to the short arm of chromosome 11 (11p15), and
constitutional loss of function of this gene is associated with overgrowth syndromes, including
Beckwith-Wiedemann syndrome (BWS) (macroglossia, omphalocele, organomegaly,
genitourinary anomalies, and increased risk for abdominal tumors), hemihypertrophy with or
without associated BWS, Perlman syndrome (visceromegaly, gigantism, renal dysplasia,
genitourinary anomalies, and characteristic facies), and Sotos syndrome (cerebral gigantism,
renal anomalies, cardiac anomalies, Wilms tumor).

Other sites of genetic defects associated with Wilms tumor include the WTX domain on the X
chromosome, the β-catenin (CTNNB1) gene on chromosome 3 (in conjunction with WT1 or
WTX), and the tumor suppressor gene TP53 on chromosome 17. The last is strongly associated
with anaplastic tumor histology and poor prognosis.

Pathologic Features

At gross examination, nephrogenic rests appear as tan nodules surrounded by normal renal
tissue. In diffuse nephroblastomatosis, the kidney may be enlarged and the cut surface may
demonstrate white to tan tissue forming a rind around the periphery of the kidney (Fig 4).

Nephrogenic rests are classified into two types— perilobar and intralobar—based on location in
the kidney. Perilobar nephrogenic rests are located peripherally in the cortex or columns of
Bertin. Perilobar rests are the more common of the two types, and they predominate in the
overgrowth syndromes and also trisomy 18. Of the syndromes associated with perilobar rests,
hemihypertrophy with or without BWS carries the highest risk for Wilms tumor at about 3%.

On the other hand, intralobar rests are found centrally within the kidney, suggesting an earlier
origin, as the renal parenchyma develops centrifugally (Fig 5). Intralobar rests are associated
with WT1 mutations. Virtually all children with sporadic aniridia have intralobar nephrogenic
rests. Although perilobar rests are more common, intralobar rests have a higher risk of
neoplastic transformation, and patients with sporadic aniridia with or without WAGR syndrome
have the highest risk for developing Wilms tumor at about 33%.

On the basis of their histologic components, nephrogenic rests may be further characterized as
dormant, sclerotic, hyperplastic, and neoplastic. Dormant and sclerotic rests are microscopic
and are not considered precursors of malignancy. Hyperplastic rests may be macroscopic and
result from proliferation of all the cells in the rest, conforming to the configuration of the original
rest. Neoplastic rests are equivalent to Wilms tumor and represent clonal proliferation of a
single cell. Consequently, they are spherical and expansile and may demonstrate internal
necrosis and/or hemorrhage. Differentiation of hyperplastic from neoplastic rests depends on
the degree of cellular atypia.

Imaging Features

Nephrogenic rests appear as peripheral, focal round, ovoid, or irregularly shaped, poorly
enhancing foci surrounded by normal parenchyma. Diffuse nephroblastomatosis forms a
peripheral rind that compresses the normal renal tissue toward the center of the kidney.

US is the least sensitive modality for detecting nephrogenic rests, which may appear hypo-, iso-
, or hyperechoic compared with adjacent renal parenchyma (Fig 5). Diffuse nephroblastomatosis
may enlarge the kidney and cause diffuse hyperechogenicity and poor corticomedullary
differentiation (Fig 6). CT is more sensitive for nephrogenic rests because their relatively
decreased enhancement makes them conspicuous (Fig 6). The thick peripheral rind of diffuse
nephroblastomatosis may show a striated enhancement pattern. At MR imaging, nephrogenic
rests are also well seen as hypointense to renal parenchyma on T1-weighted images and iso- to
slightly hyperintense on T2-weighted images (Fig 4). Lesions are best seen on T1-weighted
images after intravenous administration of gadolinium contrast material (Fig 4) and typically
appear homogeneous. Increasing size or heterogeneity or assumption of a spherical
configuration at follow-up imaging are findings concerning for neoplastic transformation (Figs 4,
5).

Figure 4. Diffuse nephroblastomatosis and Wilms tumor in a 2-year-old girl. (a) Bivalved gross
nephrectomy specimen shows white-tan tissue forming a rind around the kidney (arrows) and
compressing the renal parenchyma centrally (*). A yellow-tan, soft, lobulated mass
(arrowhead) within this rind of tissue represents the Wilms tumor. (b) Coronal T2-weighted
image shows that the peripheral rind of tissue (arrows) is hypointense compared with the
centrally compressed parenchyma. The Wilms tumor (arrowhead) is heterogeneous and
hyperintense compared with the nephroblastomatosis with tiny fluid-signal-intensity foci
consistent with cysts. (c) Coronal T1-weighted image with fat saturation obtained after
intravenous administration of gadolinium contrast material shows that the peripheral rind
(arrow) is hypointense compared with the enhancing centrally compressed parenchyma and
the Wilms tumor (arrowhead) is hypointense compared with the nephroblastomatosis.
Figure 5. Intralobar nephrogenic rest in a 3-month-old boy with Denys-Drash syndrome. (a)
Photograph of the bivalved left kidney shows a central circumscribed tan-white mass
(arrowhead). (b) Longitudinal US image of the left kidney shows a circumscribed slightly
hyperechoic central mass (arrowheads) containing small anechoic cysts (arrows). K = adjacent
kidney. (c) Coronal T2-weighted image shows that the mass in the left kidney (arrowhead) is
predominantly slightly hypointense compared with renal parenchyma except for the small
hyperintense cysts. Note the diffuse body wall edema due to nephrotic syndrome.

Figure 6. Diffuse nephroblastomatosis in a 2-year-old boy. (a) Longitudinal US image shows

multiple round to ovoid peripheral masses (*) that are hypoechoic compared with the central
renal parenchyma. (b) Coronal contrast-enhanced CT image shows that the masses (*) are
hypoattenuating compared with the adjacent parenchyma compressed in the center of the
kidney

Management and Prognosis

The finding of nephroblastomatosis should prompt clinical screening for a related syndrome.
Treatment of nephroblastomatosis without Wilms tumor remains controversial. Some authors
advocate chemotherapy as used to treat stage I Wilms tumor, although others argue that
chemotherapy does not prevent malignant transformation and recommend close interval
imaging follow-up instead. Screening for Wilms tumor in patients with associated syndromes
should begin at age 6 months with serial US every 3 months up to age 8 years, when the
incidence of Wilms tumor declines markedly.

CYSTIC NEPHROMA AND CPDN

Cystic nephroma and CPDN are rare histologically distinct but macroscopically indistinguishable
cystic tumors of the kidney, which are collectively described by the term multilocular cystic renal
tumor. Previously thought to represent developmental or hamartomatous lesions, these tumors
were known by various names, including multilocular cyst and multilocular cystic nephroma. The
current terms were endorsed by Joshi and Beckwith to emphasize their neoplastic nature and
their relationship to nephroblastoma. They are now recognized as neoplasms originating from
metanephric tissue and are considered to represent part of a spectrum of differentiation
analogous to the spectrum of neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. At
the benign end of the spectrum is cystic nephroma and at the malignant end is nephroblastoma
(Wilms tumor). CPDN lies in between. Infants and young children ages 3 months to 4 years are
affected, and there is a 2:1 male predilection. A bimodal age and sex distribution has been
observed affecting young boys and middle-aged women, but it is likely that many of the tumors
diagnosed as cystic nephroma in adults represent distinct clinical entities. Most patients present
with an asymptomatic palpable abdominal mass, although a small number have hematuria,
presumably caused by herniation of the tumor into the renal collecting system. A familial
association of cystic nephroma with the cystic type of pleuropulmonary blastoma related to the
DICER1 mutation has recently been described.

Pathologic Features

At gross examination, cystic nephroma and CPDN both are typically unifocal completely cystic
tumors ranging from 5 to 10 cm in size surrounded by a thick fibrous capsule and compressed
parenchyma (Fig 7). Rarely, the tumor may occur multifocally or bilaterally. In cystic nephroma
and CPDN, the only solid portions are the thin fibrous septa between the loculi, and solid nodules
are notably absent. The size of the loculi varies from a few millimeters to 4 cm in diameter, and
they are filled with colorless fluid or thick myxoid material. The tumor may herniate into the
collecting system (Fig 7). Calcification, hemorrhage, and necrosis are unusual. At microscopy,
the septa are lined by flat, cuboid, or hobnail cells (Fig 8). The two tumors are distinguished
microscopically by the cells found in the septa. In cystic nephroma, the septa may contain
mature tubules, whereas in CPDN, the septa contain blastemal cells and/or other embryonal
elements. The finding of nodules of blastemal cells would prompt a diagnosis of cystic Wilms
tumor.

Imaging Features

Cystic nephroma and CPDN are grossly identical and cannot be distinguished at imaging. The
tumors appear as well-circumscribed, encapsulated, multiseptated cystic masses with no
nodular solid components. Occasionally, the locules are very small so that portions of the tumor
may appear solid. The capsule and the septa but not the cyst contents enhance mildly.
Herniation of the tumor into the collecting system is a characteristic feature (Fig 7).
Uncommonly, curvilinear calcifications may be seen at plain radiography or CT. US is the most
sensitive modality for demonstrating septa (Fig 7). Cyst contents are usually anechoic but may
contain low-level echoes, and some flow may be seen in the septa (Fig 7). At CT, the cyst contents
are iso- or slightly hyperattenuating relative to water (Fig 7). At MR imaging, the cyst fluid is
similar to fluid signal intensity on T2-weighted images and has variable signal intensity on T1-
weighted images, depending on the amount of protein or blood products in the fluid (Fig 8). The
fibrous capsule and septa are hypointense on both T1- and T2-weighted images. The septa
enhance after intravenous administration of gadolinium contrast material (Fig 8).

Figure 7. Cystic nephroma in an 11-month-old girl. (a) Photograph of sectioned nephrectomy

specimen shows a large cystic tumor in the lower pole (straight arrow). The tumor is seen to
herniate into the renal pelvis (arrowhead), causing dilatation of the collecting system (curved
arrow). (b) Longitudinal US image shows the mass composed of many anechoic cysts in the
lower pole of the left kidney (straight arrow). The mass is causing caliectasis (curved arrow).
Areas with small cysts appear echogenic and solid (arrowhead). (c) Longitudinal color Doppler
image shows some flow within the septa. (d) Coronal CT image after intravenous
administration of iodinated contrast material shows enhancement of only the septa and
herniation of the tumor into the renal pelvis (arrowhead).
Figure 8. Cystic nephroma in a 15-month-old child. (a) Photomicrograph shows flat and hobnail
cells lining the septa (arrowheads). Only mature cells are seen in the septa. (H-E stain; original
magnification, ×40.) (b) Coronal T2-weighted image shows fluid signal intensity within the
cysts and a hypointense capsule and septa (arrowhead). (c) Coronal gadolinium-enhanced T1-
weighted image with fat saturation shows enhancement of the septa (arrowhead) but not the
cyst contents. The cysts are of fluid signal intensity or slightly hyperintense compared with
fluid.

Differential Diagnosis

Solid renal tumors, including Wilms tumor, mesoblastic nephroma, and clear cell sarcoma, may
contain cystic areas as a result of necrosis or hemorrhage and can mimic the appearance of
multilocular cystic renal tumor. Cyst formation occurs in only 10% of nephroblastomas, and the
tumor is rarely predominantly cystic (Fig 9). In general, the finding of solid nodular components
in the tumor should arouse suspicion of Wilms tumor. On the other hand, cystic nephroma and
CPDN may uncommonly contain loculi that are so small that portions of the tumor appear solid
at imaging. In such cases, differentiation requires tissue sampling.

Figure 9. Cystic Wilms tumor in a 3-year-old boy with a palpable abdominal mass. (a) Sectioned
gross specimen shows a large cyst (arrow) containing a solid nodule (arrowhead). K = adjacent
kidney. (b) Longitudinal US image of the left kidney shows the predominantly cystic tumor
(straight arrow) containing a solid nodule (arrowhead). Curved arrow = adjacent kidney, S =
spleen. (c) Axial CT image shows the predominantly fluid attenuation mass (arrow) in the left
kidney (K) containing a nodule of soft-tissue attenuation (arrowhead).

Nonneoplastic cystic masses, such as severe hydronephrosis and multicystic dysplastic kidney
(MCDK), should also be considered in the differential diagnosis. In severe hydronephrosis, the
cysts communicate with one another and there is a large central cyst representing the renal
pelvis. MCDK is a developmental anomaly in which the entire kidney is replaced by
noncommunicating cysts of varying sizes. MCDK is usually diagnosed prenatally or at birth, while
multilocular cystic renal tumors do not occur in the perinatal period. Contrast-enhanced cross-
sectional imaging demonstrates compressed renal parenchyma surrounding cystic renal tumors,
but this tissue is absent in MCDK. Segmental cystic renal dysplasia poses a greater diagnostic
challenge because some normal renal parenchyma is present. Usually segmental dysplasia
occurs in a duplex kidney, so evidence of complete duplication, such as ectopic ureterocele, is
helpful in suggesting the diagnosis.

With regard to differentiating multilocular cystic renal tumor from complicated benign cysts, the
finding of multiple cysts suggests hereditary cystic kidney disease, and evaluation of the parents
is helpful. For unifocal cysts, some authors have proposed adapting the Bosniak classification for
application in pediatric patients. Wallis et al proposed a modification of the Bosniak criteria for
US, as children are most often studied with this modality rather than CT. Early retrospective
studies show good interobserver agreement in classifying tumors and suggest an ability to
separate benign cysts from tumors.

Karmazyn et al made a further modification to include the Bosniak IIF criteria (slight septal
thickening [>1 mm], thin calcification, or septal Doppler flow) in modified class III. The authors
advocate no further imaging for modified Bosniak I and II cysts. Of those for which they had
followup imaging, 20.2% increased in size and about 5% became complex, yet all were benign.
A few patients developed more cysts at follow-up, indicating hereditary polycystic kidney
disease.

Bosniak III and IV (complex) cysts at US should be further evaluated with CT or MR imaging, and
if the findings of complex cyst are confirmed, surgical resection should be undertaken. According
to this system, multilocular cystic renal tumor would be classified as grade III (wall thickness and
septa ≥ 1 mm with Doppler flow and possible calcifications). Cystic Wilms tumor and other
predominantly cystic renal tumors would be classified as grade IV (wall or septal nodules or soft-
tissue component). This modified Bosniak classification system and associated management
guidelines need to be validated with prospective studies.

Management and Prognosis

Multilocular cystic renal tumor is typically cured by surgical resection alone. Due to the presence
of microscopic blastemal elements, CPDN carries the potential for more aggressive behavior and
local recurrence is rarely observed. To our knowledge, however, metastatic disease has not been
reported. Close imaging followup is recommended for CPDN. Given their benign behavior,
nephron-conserving surgery is preferred and can be pursued if the diagnosis is suspected
preoperatively based on imaging.

CONGENITAL MESOBLASTIC NEPHROMA

CMN is rare, accounting for only 3%–6% of pediatric renal tumors, but represents the most
common renal neoplasm of neonates. Most often diagnosed in the first 3 months of life, 90%
are discovered by age 1 year. Increasingly, CMNs are found at prenatal imaging and may be
diagnosed as early as the mid second trimester. The diagnosis should be questioned in a patient
older than 2 years. There is a slight male predilection with a male-to-female ratio of 1.5:1. The
most common presenting complaint is a palpable abdominal mass. Generally, the clinical
behavior is benign, but 71% are associated with perinatal complications, including
polyhydramnios, hydrops fetalis, and preterm delivery. Paraneoplastic syndromes, including
hypertension and hypercalcemia, are less common.

Pathologic Features
Two histologic subtypes of CMN are recognized—classic and cellular—and 10%–20% of tumors
are comprised of both patterns. The classic subtype accounts for less than one-third of CMNs.
At gross examination, the classic type is characterized by a whorled appearance similar to that
of uterine leiomyoma (Fig 10). The tumor is unencapsulated and infiltrative, often with extension
into the renal hilum or perinephric fat. At histologic evaluation, the mass consists of interlacing
bundles of spindle-shaped fibroblastic or myofibroblastic cells interspersed with scant collagen
fibers, a histologic appearance similar to that of infantile fibromatosis (Fig 10). At the edges,
fingerlike projections of tumor cells extend far into the adjacent renal tissue and entrap renal
elements. Dilated blood vessels may also be seen at the periphery. Mitoses are infrequent and
necrosis is not seen.

Compared with the classic type, cellular CMNs tend to be larger and to occur in slightly older
patients (>3 months of age), although they can arise in fetuses. The cellular subtype is
unencapsulated but shows a “pushing” border with the adjacent kidney. Grossly, a
multiseptated appearance with hemorrhage, necrosis, and cystic areas is common (Fig 11). At
microscopy, the tumor consists of a dense monomorphic proliferation of plump cells with little
intervening stroma, reminiscent of a small round cell tumor (Fig 11). Prominent irregular
vascular spaces are common.

Nuclear pleomorphism and high nuclear-tocytoplasm ratio may be seen. Mitotic activity is brisk.

Recent cytogenetic analysis of these tumors has led to a greater understanding of the nature of
CMN. Chromosomal abnormalities have been identified only in the cellular type. These include
polysomies of chromosome 11 and the chromosome translocation t(12;15)(p12;q25), which
results in an ETV6-NTRK3 gene fusion. These genetic abnormalities are identical to those
associated with infantile fibrosarcoma. In addition, both tumors also share a similar histologic
appearance, sensitivity to chemotherapy, and good overall survival. Thus, it is now the
consensus opinion that cellular CMN represents a visceral form of infantile fibrosarcoma and
that classic CMN represents infantile fibromatosis.

Imaging Features

Classic CMN typically appears as a homogeneous solid mass at imaging. Involvement of the renal
hilum without invasion of the vessels is common. Calcifications are uncommon. At US, the “ring”
sign of concentric hyperechoic and hypoechoic rims surrounding the tumor is characteristic of
the classic subtype, but may also be seen in cellular or mixed tumors (Fig 10). Kelner et al showed
at color and spectral Doppler imaging that this ring is vascular, likely representing the peripheral
dilated blood vessels seen at microscopy. Enhancement after intravenous administration of
iodinated or gadolinium contrast material is often peripheral, reflecting functioning entrapped
renal elements at the periphery. The mass is iso- to hypointense on T1-weighted images and
varies from markedly hypo- to hyperintense on T2-weighted images (Fig 12). Diffusion-weighted
imaging shows restricted diffusion in solid portions of the tumor, likely related to increased
cellularity.
Cellular CMN appears heterogeneous and often contains fluid-filled spaces representing
hemorrhage, necrosis, and cyst formation not seen in classic tumors (Fig 13). Uncommonly, the
tumor may appear predominantly cystic. After intravenous administration of iodinated contrast
material, variable focal enhancement of only the solid components is seen. Noncontrast CT and
T1-weighted images may show high attenuation/high-signalintensity foci of hemorrhage in the
cellular subtype (Fig 11). The relatively aggressive growth of the cellular subtype compared with
the classic results in a larger tumor, frequently crossing the midline. In addition, encasement of
vessels and invasion of adjacent organs may occasionally be observed.

Figure 10. Classic CMN in a 14-day-old girl. (a) Photograph of bivalved nephrectomy specimen
shows a yellow whorled cut surface and portions of tumor extending into the collecting system
(arrowhead). (b) Photomicrograph shows interlaced fascicles of spindle cells surrounding
entrapped tubules (arrowheads). (H-E stain; original magnification, ×40.) (c) Transverse US
image of the left kidney shows a fairly homogeneous tumor of the upper pole with a
surrounding rim of alternating hypoand hyperechogenicity (arrowhead). (d) Axial contrast-
enhanced CT image shows that the mass is homogeneous and hypoattenuating compared to
adjacent kidney with thin peripheral enhancement (arrow).

Figure 11. Cellular CMN in a 2-month-old boy. (a) Photograph of bivalved gross specimen
shows a white-tan well-demarcated tumor (arrow) with cystic spaces containing hemorrhagic
fluid (arrowhead). * = adjacent kidney. (b) Photomicrograph of a specimen from another
patient with the same diagnosis shows sheets of monomorphic plump cells with little
intervening stroma. (H-E stain; original magnification, ×40.) (c) Axial T2-weighted image shows
a predominantly isointense mass compared with the contralateral kidney. Within the mass
are fluid-signal-intensity cysts, one of which has a fluid level (arrowhead) with hypointense
dependent fluid consistent with hematocrit. Note also the dark margin of one of the cysts
(arrow), consistent with hemosiderin. (d) Coronal T1-weighted image shows that the tumor is
slightly hypointense compared to muscle with a central ovoid hyperintense focus consistent
with hemorrhage (arrowhead). (e) Coronal T1-weighted image with fat saturation after
intravenous administration of gadolinium contrast material shows that the mass enhances
less than adjacent kidney. Nonenhancing cysts are seen (arrowhead).

Figure 12. Classic CMN in a newborn male who was the product of a 30-week gestation
complicated by polyhydramnios. (a) Sagittal T2-weighted image shows a homogeneous mass
that is slightly hypointense compared with adjacent kidney (arrowhead) with secondary
hydronephrosis (arrow). (b) Axial T1-weighted image with fat saturation after intravenous
administration of gadolinium contrast material shows a homogeneous tumor (arrowhead)
that is isointense compared with the contralateral kidney.

Figure 13. Cellular CMN in a 1-month-old boy. (a) Transverse color Doppler image of the right
kidney shows a heterogeneous tumor with prominent anechoic cysts (arrowhead). (b)
Contrast-enhanced CT image shows the large fluid attenuation cyst within the medial aspect
of the right renal mass (arrowhead). Arrow = adjacent kidney.

Differential Diagnosis

Other renal tumors that may occur in the neonate include Wilms tumor, clear cell sarcoma,
rhabdoid tumor, and ORTI. Although Wilms tumor is the most common pediatric renal tumor
and is indistinguishable from cellular CMN at imaging, CMN is more common in young infants.
On the other hand, if there are bilateral tumors, venous invasion, or pulmonary metastases,
Wilms tumor is more likely. CCSK may appear similar to the cellular subtype of CMN with
multiple cystic foci, but CMN is more common in young infants. Rhabdoid tumor is distinguished
by an associated intracranial tumor.

ORTI typically demonstrates calcified osteoid matrix, whereas calcification is uncommon in CMN

Neuroblastoma can also be a congenital tumor and may invade the kidney, typically the upper
pole, or rarely arise within the renal parenchyma. Neuroblastoma is distinguished by its
propensity to cross the midline, encase vessels, and invade the spinal canal, although these
features have been reported in cellular CMN. Calcification is visible at CT in most
neuroblastomas, but this finding is uncommon in CMN.

In older infants, cystic nephroma and CPDN appear similar to predominantly cystic cellular CMN
and must be considered in the differential diagnosis. The finding of solid enhancing components
makes cystic nephroma or CPDN unlikely

Treatment and Prognosis

In most cases, definitive treatment consists of nephrectomy. Due to the infiltrating borders and
tendency to invade the hilum and perinephric fat, wide surgical margins are required. Local
recurrence is usually attributed to incomplete resection. Chemotherapy and multimodal therapy
are reserved for cases of unresectable or residual tumor. The prognosis is best if the tumor is
resected before age 6 months.

Initially characterized as benign, CMN is now recognized as a tumor of variable biologic behavior.
Most tumors behave in a benign fashion and overall survival is well above 90%, but 5%–10%
develop local recurrence or metastases to lung, liver, bone, or brain. Aggressive behavior is
restricted to tumors that contain the cellular subtype. Nearly all recurrences are discovered
within 1 year of the initial presentation, so close US follow-up for tumors with cellular histology
for 1 year is recommended.
CLEAR CELL SARCOMA

CCSK is a rare mesenchymal neoplasm that accounts for 4%–5% of pediatric primary renal
neoplasms. CCSK is the second most common malignant tumor of the kidney after Wilms tumor,
with an annual incidence in the United States of 20 cases. Initially thought to represent an
unfavorable histologic variant of Wilms tumor, CCSK was recognized as a distinct clinical-
pathologic entity in 1970 and noted for its propensity to metastasize to bone, an uncommon
site of metastasis for Wilms tumor. The mean age at diagnosis is 36 months, but the tumor is
rare under age 6 months. A male predilection has been noted with a male-tofemale ratio of 2:1.
A palpable abdominal mass is the most common clinical manifestation. Hematuria and bone
pain are less common.

Pathologic Features

Macroscopically, CCSK is always unilateral and unicentric and appears as a well-circumscribed,

large, solid mass replacing most of the kidney or centered in the renal medulla. The cut surface
typically appears gelatinous and glistening due to large amounts of extracellular
mucopolysaccharides (Fig 14). Cystic foci are found in most tumors and occasionally
predominate, suggesting cystic nephroma. Hemorrhage and necrosis are frequent findings
(70%). Hilar lymphovascular infiltration is common and accounts for the relatively frequent
finding (30%) of local lymph involvement (Fig 14). Lymph node metastases are generally rare in
sarcomas, which spread hematogenously. Gross extension into the renal vein is observed in 5%
of cases.

Histologically, CCSK demonstrates remarkable morphologic variability with nine different types
described. Most tumors demonstrate at least in part the classic histologic pattern, consisting of
cords or nests of cells surrounded by a delicate regular framework of branching cellular
fibrovascular septa resembling chicken wire (Fig 15). The cord cells are loosely associated,
undifferentiated, plump ovoid to spindle-shaped cells surrounded by a prominent extracellular
mucopolysaccharide matrix that imparts the clear cell appearance. Although the margins of the
tumor appear sharply demarcated at gross examination, higher-power microscopy reveals
infiltration of the adjacent parenchyma with entrapment of renal tubules. These entrapped
tubules may become extensively dilated, accounting for the macroscopically apparent cysts.

Imaging Features

Little literature pertaining to the imaging features of CCSK is available. A predominantly solid
heterogeneous renal mass with cystic-appearing areas representing cysts and mucoid material
is seen (Fig 14). At US, the cysts are anechoic (Fig 15). Occasionally, large fluid-filled spaces with
echogenic septa similar to multilocular cystic renal tumor may predominate. At CT, the tumor
enhances heterogeneously and less than adjacent kidney and shows nonenhancing foci, which
correspond to hemorrhage and necrosis at pathologic examination. The tumor often crosses the
midline. Calcifications are infrequent. At MR imaging, the tumor has low to intermediate signal
intensity on T1-weighted images and high signal intensity on T2-weighted images with cystic
areas (Fig 14). Subcapsular hemorrhage has been reported. Caval and right atrial extension is
rarely seen at imaging.

Distant metastases are found at presentation in 5%–18% of patients. The most common sites at
presentation are lymph nodes (30%) and bone (13%–20%), with the lung, brain, and liver less
frequent (Fig 14). Due to its propensity for osseous metastases, bone scintigraphy should be
performed once the diagnosis is established. Bone metastases may be lytic, sclerotic, or mixed
at radiography.

Figure 14. CCSK in a 2-year-old girl. (a) Photograph of the sectioned kidney shows a large mass
with a glistening cut surface (straight arrow) and a focal area of necrosis (arrowhead). A small
cystic area is also seen (curved arrow). (b) Axial CT image shows that the large mass (white
arrow) is hypoattenuating compared with the contralateral enhancing kidney, except for a few
small calcifications. A focal area of fluid attenuation without enhancement corresponds to
necrosis (arrowhead). Enlarged regional lymph nodes (*) separate the aorta from the leftward-
deviated IVC (black arrow). (c) Axial T2-weighted image shows that the tumor is
predominantly hyperintense compared with the contralateral kidney (arrow), except for the
dark septa. Small fluid-signalintensity cysts are seen medially (arrowhead). Involved lymph
nodes (*) are similar in signal intensity to the kidney. (d) Axial gadolinium-enhanced T1-
weighted image shows the tumor and involved lymph nodes (*) enhancing less than the
contralateral kidney and lack of enhancement of the cysts (arrowhead). (e) Coronal T2-
weighted image shows the posterior aspect of the right renal tumor (arrow) and a
compression fracture of a thoracic vertebral body due to metastatic disease (arrowhead).

Figure 15. CCSK in a 10-month-old girl. (a) Photomicrograph shows monotonous ovoid cells
with indistinct cytoplasm surrounded by a prominent extracellular matrix and arranged into
nests by a delicate fibrovascular network (arrowheads). (H-E stain; original magnification,
×40.) (b) Longitudinal color Doppler image shows anechoic cystic foci within the solid tumor
(arrowhead) and minimal internal flow. (c) Axial contrast-enhanced CT image shows that the
right renal tumor (straight arrow) appears predominantly cystic with attenuation similar to
that of fluid. Curved arrow = adjacent kidney.

Differential Diagnosis
The imaging features of CCSK are nonspecific and shared with other primary renal tumors,
particularly Wilms tumor, which is much more common. On the other hand, if present, bone
metastases would indicate CCSK rather than Wilms tumor. Occasionally, CCSK appears
predominantly cystic and resembles the benign cystic nephroma. The finding of nodular solid
components or lymph node involvement would indicate CCSK or Wilms tumor rather than cystic
nephroma.

Management and Prognosis

CCSK has a notably worse prognosis compared with Wilms tumor, particularly in patients
younger than 12 months of age. Relapses occur in 20%–40% of patients. The mainstay of therapy
is radical nephrectomy with lymph node dissection. CCSK does not respond to standard Wilms
tumor protocols. With current regimens of intense chemotherapy and sometimes radiation
therapy, 5-year overall survival has increased from 25% to 86%, and survival for stage I disease
is now nearly 100%.

RHABDOID TUMOR

Rhabdoid tumor of the kidney is a rare aggressive neoplasm of unknown histogenesis accounting
for less than 2% of pediatric renal tumors. Initially described as a sarcomatous type of Wilms
tumor because of its histologic resemblance to skeletal muscle, rhabdoid tumor is now
recognized as a distinct entity. A unique feature of rhabdoid tumor is an association in 15% of
cases with synchronous primary and secondary intracranial neoplasms. These are usually near
the midline and commonly located in the posterior fossa. Histologic types include primitive
neuroectodermal tumor (PNET), rhabdoid tumor of the brain (known as atypical teratoid
rhabdoid tumor [AT/RT]), medulloblastoma, ependymoma, and cerebellar or brainstem
astrocytoma.

Rhabdoid tumor is a neoplasm that exclusively occurs in childhood. Eighty percent of cases are
diagnosed in children younger than 2 years of age, and the mean age at diagnosis is 11 months.
There is a slight male predominance with a male-to-female ratio of 1.5:1. A common presenting
symptom is hematuria related to invasion of the renal collecting system. Hypercalcemia due to
elevated serum parathormone levels may also be observed. Due to the aggressive nature of the
tumor, 80% of patients present with advanced disease and symptoms may be referable to
metastases. Common metastatic sites include the lung, brain, and bone.

Pathologic Features

The vast majority of rhabdoid tumors are solitary. Rhabdoid tumor is thought to arise from
primitive cells in the medulla, so is often centrally located and invades the renal hilum and
collecting system. The macroscopic appearance is nonspecific with areas of hemorrhage and
necrosis (Fig 16). Frequently, the hemorrhage is subcapsular. Vascular invasion is common. At
histologic analysis, the tumor is composed of monotonous sheets of discohesive cells with
vesicular nuclei and prominent eosinophilic nucleoli. Some cells show characteristic eosinophilic
filamentous cytoplasmic inclusions that displace the nucleus to one side (Fig 16). Molecular
genetic studies reveal loss of function of the INI-1 tumor suppressor gene on chromosome 22q
in rhabdoid tumors of the kidney and in AT/RT, a feature that allows definitive diagnosis.

Imaging Features

Rhabdoid tumor appears similar to Wilms tumor at imaging, but if present, certain features may
suggest the diagnosis. The most common of these is a subcapsular fluid collection that may
represent subcapsular hemorrhage or a crescentic area of necrosis (Fig 17). The crescent
appears hypoattenuating at CT, may appear hyperintense on T1-weighted MR images, and does
not enhance (Fig 17). Agrons et al, in a study of 21 cases, found this feature in 71% of rhabdoid
tumors. On the other hand, this feature is not specific for rhabdoid tumor, as it was found in
12% of the comparison group of other renal tumors. In fact, given the rarity of rhabdoid tumor,
a renal mass with a subcapsular fluid collection is more likely to represent Wilms tumor.

Another suggestive feature of rhabdoid tumor is multilobulated architecture, particularly when

surrounded by low-attenuation material representing old hemorrhage or necrosis. Furthermore,
rhabdoid tumor is much more likely to contain calcifications than is Wilms tumor (66% vs 6%–
15%). These calcifications are often curvilinear and may outline tumor lobules. The tumor
margins are typically indistinct. The mass tends to be centrally located but may be peripheral.
Invasion of the renal hilum and pelvis may be seen. Like the much more common Wilms tumor,
rhabdoid tumor can invade the renal vein and IVC. Involvement of retroperitoneal lymph nodes
and lung and liver metastases may also be observed.

Figure 16. Renal rhabdoid tumor in a 6-month-old boy. (a) Photograph of the bivalved kidney
shows a gray-white, lobulated, well-demarcated tumor within the kidney (K). (b)
Photomicrograph shows discohesive cells with vesicular nuclei. A few rhabdoid cells show
eosinophilic cytoplasm displacing the nuclei to one side (arrowheads). (H-E stain; original
magnification, ×100.) (c) Transverse color Doppler image shows a tumor of heterogeneous
echogenicity (arrow) with some internal flow. (d) Axial CT image shows a slightly
heterogeneous mass (arrow) enhancing less than the adjacent kidney (arrowhead).

Figure 17. Rhabdoid tumor in an 11-week-old boy. (a) Axial T2-weighted image shows a slightly
heterogeneous mass of the left kidney (straight arrow) with a fluid-signal-intensity crescent
(arrowhead). Curved arrow = adjacent kidney. (b) Coronal spoiled gradient-echo image after
intravenous administration of gadolinium contrast material shows a posterior fossa tumor
(arrow) with mild enhancement and central nonenhancing necrosis. Hydrocephalus is also
seen.
Differential Diagnosis

Most renal tumors of infants are more common than rhabdoid tumor, particularly Wilms tumor.
In young infants, mesoblastic nephroma is the most likely diagnosis and may also demonstrate
a subcapsular fluid collection, but involvement of adjacent lymph nodes or distant metastases
would favor an aggressive tumor over the indolent mesoblastic nephroma. CCSK also occurs in
the same age group and is distinguished by early metastases to bone, but rhabdoid tumor can
also metastasize to bone. Although the primary renal rhabdoid tumor is similar in appearance
to other tumors at imaging, the finding of a synchronous intracranial neoplasm is a distinctive
feature (Fig 17).

Treatment and Prognosis

Neuroimaging is not part of the routine preoperative evaluation for pediatric renal tumors, but
should be pursued preoperatively if there are neurologic symptoms and postoperatively if the
diagnosis of rhabdoid tumor is rendered. Treatment consists of radical nephrectomy and
resection of adjacent lymph nodes followed by chemotherapy. Even with aggressive treatment,
the overall survival rate remains low.

Rhabdoid tumor is a highly aggressive tumor with early metastasis and frequent intracranial
involvement. As such, rhabdoid tumor has the worst prognosis of any pediatric renal
malignancy. The prognosis is worse for patients under 1 year of age, those with high-stage
disease, and those with intracranial tumors.

OSSIFYING RENAL TUMOR OF INFANCY

ORTI is an extremely rare benign tumor that affects infants from age 6 days to 30 months and
accounts for less than 1% of pediatric renal neoplasms. To date, only 17 cases have been
reported in the literature. There is a predilection for boys, and the usual presenting symptom is
hematuria. Ossifying renal tumor is typically 2–3 cm in diameter and histologically composed of
spindle cells and osteoblastic cells in a calcified osteoid matrix (Fig 18). Thought to originate from
intralobar nephrogenic rests, the tumor is attached to the renal papilla, from which it grows into
the calix and renal pelvis.

Because the mass is usually calcified, it resembles a staghorn calculus at radiography. At

sonography, the mass is strongly echogenic with posterior acoustic shadowing and possibly
secondary hydronephrosis (Fig 18). Intratumoral flow may be seen with color Doppler imaging.
CT shows variable contrast enhancement, distinguishing the tumor from a calculus (Fig 18). The
few reports of MR imaging of ossifying renal tumor describe low signal intensity on T2-weighted
images due to calcification and possibly to dense cellularity. ORTI is considered benign and
treated with resection alone. Nephron-sparing surgery is probably adequate. Recurrence and
metastases have not been reported.
Figure 18. ORTI in a 3-week-old boy with gross hematuria. (a) Photograph of the sectioned
nephrectomy specimen shows the firm tan-yellow tumor in the renal collecting system
(arrowhead). (b) Photomicrograph shows an eosinophilic osteoid matrix (arrow) and
osteoblasts (arrowhead). (H-E stain; original magnification, ×10.) (c) Longitudinal US image of
the kidney shows a slightly hyperechoic mass (arrow) containing a markedly hyperechoic focus
with posterior shadowing (arrowhead). (d) Oblique coronal contrast-enhanced CT image
shows a heterogeneous upper pole mass (arrow) with spicules of calcification (arrowhead).

OTHER TUMORS

Other tumors that are more common in older children and adolescents may arise in certain
situations in children under 10 years of age. Lymphoma is the third most common malignancy
of childhood, and non-Hodgkin lymphoma is more common than Hodgkin lymphoma in children
under 10 years of age. Burkitt lymphoma is the most common of these and typically arises after
the age of 5 years. Bilateral hypoechoic or hypoattenuating cortical masses with preservation of
the reniform shape are typical findings, although other types of lymphoma may cause a single
renal mass and mimic other renal tumors. Findings of confluent nodal masses and an abdominal
or mediastinal mass suggest the diagnosis of lymphoma.

Renal cell carcinoma usually occurs in older children and is discussed in detail in part 2; however,
in patients with predisposing conditions such as von Hippel–Lindau disease, renal cell carcinoma
may be diagnosed in the 1st decade. Angiomyolipoma affects older children and is also discussed
in part 2, but in children with tuberous sclerosis complex, small angiomyolipomas are commonly
found before the age of 10 years.

Metanephric tumors represent a spectrum of tumors derived from metanephric blastema

including metanephric adenoma, metanephric adenofibroma, and metanephric stromal tumor.
Of these, metanephric stromal tumors are most often seen in young children with a mean age
at diagnosis of 2 years. This tumor is typically solid but may contain large cystic components.
This spectrum of tumors is discussed in detail in part 2.

Conclusion

Although Wilms tumor comprises the vast majority of renal neoplasms in young children, benign
tumors and malignant tumors that require more intensive therapies also occur. Knowledge of
the clinical-pathologic features and some distinctive imaging features of these tumors can allow
the radiologist to provide information with a potential impact on patient management.