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Radiology of Wilms Tumour
Radiology of Wilms Tumour
COLLEGE OF MEDICINE,
UNIVERSITY OF IBADAN
BY
IGWE SOLOMON I.
190997
GROUP B, 2018
FEBRUARY 2022
CONTENTS
I. INTRODUCTION .............................................................................................................. 4
A. Discussion of other conditions that may present with similar radiological findings: ......... 14
2
A. Discussion of Prognosis Factors and Survival Rates: ......................................................... 18
REFERENCES ........................................................................................................................ 23
3
I. INTRODUCTION
Wilms Tumour, also known as nephroblastoma, is a rare type of kidney cancer that primarily
affects children. It is the most common renal tumour in paediatric patients, accounting for
approximately 90% of all kidney tumours in children (1). Wilms Tumour usually occurs in
children aged 3 to 4 years, but it can be seen in infants and older children as well. The tumour
is named after Max Wilms, a German surgeon who first described it in 1899.
The exact cause of Wilms Tumour is still unknown, although several genetic and
environmental factors have been implicated. Genetic predisposition plays a significant role in
the development of Wilms Tumour, as about 10% of affected children have a family history of
the disease (2). Several genes have been associated with the development of Wilms Tumour,
including WT1, WT2, and WTX. Mutations or abnormalities in these genes can disrupt normal
Clinically, children with Wilms Tumour typically present with a painless abdominal mass,
examination. Other signs and symptoms may include abdominal pain, haematuria (blood in the
urine), hypertension (high blood pressure), and fever. However, these symptoms are
nonspecific and can also be associated with other conditions, emphasizing the importance of
Radiology plays a crucial role in the diagnosis and management of Wilms Tumour. The initial
imaging modality of choice is typically an abdominal ultrasound (US), which can accurately
identify the presence of a renal mass and evaluate its characteristics (1). US features suggestive
of Wilms Tumour include a well-defined, predominantly solid mass with variable echogenicity.
4
US can also help determine the tumour's location within the kidney and assess its relationship
characterize the tumour and assess its extent. Computed tomography (CT) and magnetic
resonance imaging (MRI) are commonly used modalities for this purpose. CT provides
excellent spatial resolution and is particularly useful for evaluating the extent of tumour
involvement, detecting lymph node metastasis, and assessing the presence of distant metastases
(3). MRI, on the other hand, provides detailed soft tissue characterization and can aid in
Radiology plays a crucial role in the diagnosis and management of Wilms Tumour, offering
valuable insights into the tumour's characteristics, staging, and treatment planning. The
utilization of various radiological imaging modalities allows for accurate assessment of the
Imaging techniques, such as ultrasound (US), computed tomography (CT), and magnetic
resonance imaging (MRI), are essential in the initial diagnosis of Wilms Tumour. Ultrasound
is often the first-line imaging modality used to evaluate a suspected renal mass in children (1)
It allows for the identification and characterization of the tumour, assessment of its size,
location within the kidney, and involvement of adjacent structures. Ultrasound features
suggestive of Wilms Tumour include a well-defined, predominantly solid mass with variable
echogenicity (3).
Once a renal mass is identified, additional radiological investigations, such as CT and MRI,
are employed to further evaluate the tumour and its extent. CT provides excellent spatial
5
resolution, allowing for accurate staging and assessment of local invasion, lymph node
involvement, and distant metastases (3). CT scans aid in determining the precise location and
size of the tumour, which is crucial for surgical planning and identifying potential
MRI, with its superior soft tissue contrast resolution, is valuable for differentiating Wilms
Tumour from other renal masses, particularly those with cystic or complex solid components
(1). It helps evaluate the tumour's involvement of surrounding structures, such as the renal vein,
inferior vena cava, or adjacent organs. Additionally, MRI is beneficial for assessing the
tumour's response to neo-adjuvant chemotherapy and for monitoring treatment response during
follow-up (3).
The radiological findings obtained through these imaging modalities contribute significantly
to the staging of Wilms Tumour. Staging is crucial for determining the appropriate treatment
approach and predicting prognosis. The International Society of Paediatric Oncology (SIOP)
staging system is commonly used and takes into account the tumour size, local invasion, lymph
node involvement, and distant metastasis (3). Radiological imaging provides the necessary
Furthermore, radiology plays an essential role in the evaluation of treatment response and
monitoring disease progression. Serial imaging assessments during and after chemotherapy
allow for the assessment of tumour regression, identification of residual disease, and detection
of recurrent or metastatic disease (1). These imaging studies aid in clinical decision-making
6
II. PATIENT PRESENTATION AND CLINICAL HISTORY
epidemiology and clinical characteristics of Wilms Tumour. Wilms Tumour primarily affects
paediatric patients, with the majority of cases occurring in children aged 3 to 4 years (4).
However, it can also be seen in infants and older children. The incidence of Wilms Tumour is
Age is a significant factor in the diagnosis and management of Wilms Tumour. Younger age
with a better prognosis (4). Children diagnosed before the age of 2 years tend to have a higher
proportion of favourable histology tumours, while those diagnosed at an older age may have a
Gender differences have also been observed in Wilms Tumour. The condition is slightly more
common in girls than in boys, with a male-to-female ratio of approximately 1:1.2 (5). However,
the clinical significance of this gender disparity remains unclear, and further research is needed
Apart from age and gender, other demographic factors can play a role in the incidence and
Wilms Tumour in certain racial and ethnic populations. For instance, studies have reported
higher incidence rates among African-American and Hispanic children compared to children
of Caucasian descent (6). Socioeconomic factors and access to healthcare may also influence
the stage at diagnosis, treatment outcomes, and survival rates among different populations (6).
7
Understanding the demographic characteristics of Wilms Tumour patients is important for
several reasons. First, it helps identify specific populations at higher risk, allowing for targeted
screening and early detection efforts. Second, demographic information provides insights into
potential genetic and environmental factors that may contribute to the development of Wilms
Tumour. Family history and genetic predisposition, for example, are more prevalent in certain
populations and may influence tumour development (5). Lastly, demographic factors can
impact treatment outcomes and survival rates, as they may be associated with variations in
Wilms Tumour, also known as nephroblastoma, is the most common type of kidney cancer that
affects children. The disease often presents with various signs and symptoms, which can vary
depending on the stage of the tumour and its location within the kidney.
The most common presenting symptom of Wilms Tumour is the presence of an abdominal
mass or swelling. Parents or caregivers may notice a firm, non-tender mass in the child's
abdomen during routine physical examination or while bathing the child (7). The mass is
typically smooth and confined to one side of the abdomen, although it can occasionally involve
both kidneys. In some cases, the tumour may be large enough to cause abdominal pain or
discomfort.
Other symptoms that can occur in children with Wilms Tumour include haematuria (blood in
the urine), hypertension (high blood pressure), and fever. Haematuria, which may be visible or
microscopic, can occur due to tumour invasion into the renal pelvis or blood vessels within the
kidney (7). Hypertension can result from the release of renin by the tumour or the compression
of the renal arteries (7). Fever, although less common, can be a manifestation of tumour
8
The duration of symptoms before diagnosis can vary widely. In some cases, the mass may be
detected incidentally during routine physical examination or imaging for other reasons,
resulting in an early diagnosis. However, in many cases, the duration between the onset of
symptoms and diagnosis can be several weeks to months. Delayed diagnosis may occur due to
Early diagnosis and prompt treatment of Wilms Tumour are crucial for optimal outcomes.
imaging (MRI) are commonly used to evaluate the extent and characteristics of the tumour.
These imaging modalities can help determine the size, location, and involvement of adjacent
structures, aiding in the staging of the tumour (7). Additionally, blood tests and urine analysis
It is important to note that while Wilms Tumour is typically asymptomatic or associated with
non-specific symptoms, there are rare instances where the tumour may present with more
severe manifestations. These can include acute abdominal pain, anaemia, weight loss, or even
Family history plays a significant role in the context of Wilms Tumour, as there is evidence to
suggest a genetic predisposition to the disease. While the majority of Wilms Tumours occur
sporadically without a family history, a small proportion of cases are associated with inherited
The most well-known genetic syndrome associated with Wilms Tumour is WAGR syndrome
9
syndrome is caused by a deletion or mutation in the WT1 gene on chromosome 11p13, which
anomalies, and intellectual disabilities (9). Children with WAGR syndrome have a
significantly increased risk of developing Wilms Tumour, with estimates ranging from 30% to
50% (4).Therefore, a thorough evaluation of the family history should be performed in children
Other genetic syndromes associated with an increased risk of Wilms Tumour include Denys-
anomalies, and a high risk of Wilms Tumour (9). Beckwith-Wiedemann syndrome, on the other
macrosomia (large body size), macroglossia (enlarged tongue), and omphalocele (abdominal
wall defect) (4). Children with Beckwith-Wiedemann syndrome have an increased risk of
developing Wilms Tumour, particularly those with specific genetic abnormalities such as loss
In addition to these specific syndromes, a positive family history of Wilms Tumour in first-
degree relatives is also associated with an increased risk of developing the disease. Siblings of
a child diagnosed with Wilms Tumour have a slightly higher risk of developing the tumour
compared to the general population (10). The risk is further increased if the affected sibling has
bilateral or multifocal tumours (9). Close monitoring and surveillance are recommended for
outcomes.
Genetic counselling and testing play a crucial role in families with a history of Wilms Tumour.
Identification of individuals carrying specific genetic mutations associated with Wilms Tumour
10
allows for appropriate surveillance and early detection. Furthermore, genetic testing can
provide valuable information for family planning and counselling regarding the risk of Wilms
Various imaging modalities are utilized in the diagnosis and management of Wilms Tumour,
including ultrasound, computed tomography (CT) scan, and magnetic resonance imaging
(MRI). Each modality provides valuable information about the location, size, characteristics,
Ultrasound is often the initial imaging modality used to evaluate an abdominal mass in children.
It is non-invasive, readily available, and does not involve ionizing radiation, making it ideal
for paediatric patients. Ultrasound helps determine the size, location, and overall characteristics
of the tumour, such as its solid or cystic nature (3). Additionally, Doppler ultrasound can assess
the blood flow within the tumour and surrounding structures, aiding in the evaluation of
vascular involvement.
detailed cross-sectional images of the abdomen and can accurately determine the extent of the
tumour. CT scans offer precise information about the size and location of the tumour, as well
as its relationship to adjacent structures, including the renal vein and lymph nodes (11).
11
MRI is particularly useful in cases where further characterization of the tumour is required. It
provides detailed anatomical and soft tissue information, allowing for better assessment of
evaluating vascular invasion, as it can accurately depict the relationship between the tumour
and the renal vein (12). Moreover, MRI can help differentiate between solid and cystic
Radiological imaging allows for precise determination of the location and size of the Wilms
Tumour within the kidney. Typically, the tumour arises from one kidney and is localized,
although bilateral cases do occur. Imaging findings can reveal the specific kidney involved
(right or left) and the precise location of the tumour within the renal parenchyma.
Radiological studies provide information about the characteristics of the tumour, including
whether it appears solid, cystic, or demonstrates specific features such as calcifications. Solid
components of the tumour typically appear hypoechoic on ultrasound, while cystic areas may
appear anechoic or have internal fluid levels (3). CT scans and MRI can further elucidate the
solid and cystic components, aiding in tumour characterization and treatment planning.
Imaging plays a crucial role in assessing the involvement of surrounding structures by the
Wilms Tumour. The renal vein is commonly evaluated for tumour invasion, which can have
implications for surgical planning and prognosis. Lymph nodes in the vicinity of the kidney
12
are also assessed for potential metastatic spread, as lymph node involvement is an important
System:
The International Society of Paediatric Oncology (SIOP) staging system is widely used for
Wilms Tumour. It categorizes the tumour into different stages based on specific criteria,
metastasis (12).
The SIOP staging system for Wilms Tumour includes the following stages:
Stage I: The tumour is limited to the kidney and can be completely resected without rupture or
spillage. There is no involvement of the renal sinus, lymph nodes, or distant metastasis.
Stage II: The tumour extends beyond the kidney but can still be completely resected. It may
involve the renal sinus or invade the renal capsule. However, there is no lymph node
Stage III: The tumour extends beyond the kidney and cannot be completely resected. This stage
includes tumours with residual tumour nodules at or near the surgical margins, lymph node
Stage IV: The tumour has spread to distant sites, such as the lungs, liver, bones, or other distant
13
Stage V: This stage includes bilateral renal involvement at the time of diagnosis, regardless of
other factors.
Radiological staging is based on the findings from imaging modalities such as CT scans, MRI,
and chest X-rays to detect distant metastasis. These findings guide treatment decisions and help
A. Discussion of other conditions that may present with similar radiological findings:
When evaluating a renal mass in a paediatric patient, it is important to consider other conditions
that may present with similar radiological findings to Wilms Tumour. These differential
diagnoses include:
within the kidney, which can mimic the appearance of Wilms Tumour on imaging studies.
typically demonstrates multiple small, well-defined nodules throughout the kidney, and careful
Renal Cell Carcinoma: Renal cell carcinoma (RCC) is a malignant tumour that can occur in
paediatric patients, although it is more commonly seen in adults. On imaging, RCC often
growth, or invasion into the renal vein suggests RCC rather than Wilms Tumour.
14
Multilocular Cystic Nephroma: Multilocular cystic nephroma is a rare benign renal tumour that
predominantly affects children. It typically presents as a multilocular cystic mass with well-
defined septations on imaging studies (15). Unlike Wilms Tumour, multilocular cystic
Age of Presentation: Wilms Tumour is primarily a paediatric malignancy, with most cases
diagnosed before the age of 5 years. In contrast, renal cell carcinoma and multilocular cystic
Location and Size of the Tumour: Wilms Tumour typically arises from one kidney, whereas
renal cell carcinoma can affect either kidney and is more frequently unilateral. Multilocular
cystic nephroma is usually unilateral as well. Additionally, the size of the tumour can provide
important clues, as Wilms Tumour is often larger than other renal masses seen in children.
Solid vs. Cystic Nature: Wilms Tumour can have a heterogeneous appearance on imaging, with
both solid and cystic components. However, the presence of significant solid components
favours Wilms Tumour, while predominantly cystic lesions suggest other differential
Vascular Involvement: Invasion of the renal vein is more commonly seen in Wilms Tumour
than in other renal masses. The presence of tumour thrombus within the renal vein or inferior
Metastasis: The presence of distant metastasis, particularly to the lungs or liver, is more
commonly associated with Wilms Tumour than with other renal masses in children.
Accurate differentiation between Wilms Tumour and other differential diagnoses is crucial for
15
V. Treatment and Management
surgery, chemotherapy, and radiation therapy in certain cases. The specific treatment plan
depends on various factors such as tumour stage, histology, and patient's age. The primary
goals of treatment are to achieve complete tumour resection, minimize the risk of recurrence,
Radiology plays a crucial role in the treatment planning and monitoring of Wilms Tumour.
Imaging modalities such as ultrasound, CT scan, and MRI help in assessing tumour
characteristics, determining the extent of disease, and identifying any associated vascular or
lymphatic involvement. These findings aid in surgical planning by guiding the surgeon to
achieve complete tumour resection while preserving as much healthy renal tissue as possible.
During the course of treatment, radiological imaging is used to monitor treatment response and
assess for any signs of disease recurrence or metastasis. Follow-up imaging allows for early
detection of any residual or recurrent disease, guiding further treatment decisions and ensuring
timely intervention.
Surgical Interventions: Surgery is the primary treatment for Wilms Tumour and aims to achieve
complete tumour resection while preserving renal function. The extent of surgery depends on
the tumour stage and may involve partial nephrectomy (removal of the tumour while preserving
16
a portion of the kidney) or radical nephrectomy (complete removal of the affected kidney).
Lymph node sampling or dissection may also be performed to evaluate for any lymph node
involvement (16).
typically administered both before and after surgery to reduce tumour size, control
micrometastatic disease, and improve overall survival rates. Commonly used chemotherapy
agents include vincristine, dactinomycin, and doxorubicin. The specific chemotherapy regimen
Radiation Therapy: Radiation therapy is utilized in specific cases of Wilms Tumour, primarily
when there is a high risk of local recurrence or in the presence of residual disease after surgery.
It is typically administered postoperatively and may involve external beam radiation targeting
the tumour bed and nearby lymph nodes. The dose and field of radiation depend on the
individual patient's risk factors and the treatment team's recommendations (16).
After completion of treatment, regular follow-up imaging is essential to monitor for disease
recurrence or late effects of treatment. The frequency and duration of follow-up imaging
depend on the individual patient's risk factors, treatment response, and specific protocols
scan, or MRI. These imaging studies help evaluate the surgical site, assess for any residual or
17
In addition to imaging, close clinical monitoring, including physical examination and
laboratory tests, is an integral part of surveillance to detect any signs or symptoms of disease
The prognosis of Wilms Tumour depends on various factors, including tumour stage, histology,
age at diagnosis, and response to treatment. Overall, the prognosis for Wilms Tumour is
favourable, with high survival rates achieved through multimodal treatment approaches.
Tumour Stage: The stage of Wilms Tumour is a significant prognostic factor. The International
Society of Paediatric Oncology (SIOP) staging system is commonly used to stratify patients
into different risk groups. Generally, patients with lower stage tumours have better prognoses
and higher survival rates compared to those with advanced stages (17).
Tumours, which represent the majority of cases, have excellent survival rates. However,
unfavourable histology subtypes, including diffuse anaplastic Wilms Tumour, are associated
particularly those diagnosed before the age of 2 years, tend to have better outcomes than older
Survival rates for Wilms Tumour have significantly improved over the years due to
advancements in treatment protocols. The overall 5-year survival rate for Wilms Tumour is
18
approximately 90%, with higher rates observed in favourable histology and lower stage
tumours (18).
While the majority of patients with Wilms Tumour achieve long-term survival, it is important
to consider potential long-term outcomes and complications that may arise as a result of the
Renal Function: Since Wilms Tumour primarily affects the kidneys, there is a risk of impaired
renal function following treatment. Depending on the extent of surgical resection and any
radiation therapy administered, some patients may experience long-term renal dysfunction or
pulmonary fibrosis. Long-term follow-up and monitoring of cardiac and pulmonary function
are important for timely detection and management of these potential complications (17).
Second Malignancies: Survivors of Wilms Tumour are at a slightly increased risk of developing
second malignancies later in life. This risk is influenced by various factors, including genetic
surveillance and screening for second malignancies are essential in long-term survivorship care
(17).
Radiological findings play a crucial role in assessing the extent of disease and guiding
treatment decisions for Wilms Tumour. They provide valuable information about tumour
19
characteristics, involvement of surrounding structures, and the presence of metastasis. These
findings help determine the tumour stage and guide the selection of appropriate treatment
modalities.
The radiological evaluation of Wilms Tumour also aids in prognostication by identifying high-
risk features, such as tumour rupture, vascular invasion, or lymph node involvement. These
factors may influence treatment decisions and intensification of therapy in order to optimize
outcomes.
Furthermore, radiological imaging during follow-up allows for early detection of disease
VII. Conclusion
In this case write-up, we have explored various aspects of Wilms Tumour, a common paediatric
renal malignancy. The key points discussed include the overview of Wilms Tumour, its
staging, treatment options, prognosis, and long-term outcomes. Additionally, we examined the
Radiology plays a critical role in the diagnosis, staging, and management of Wilms Tumour.
Imaging modalities such as ultrasound, CT scan, and MRI provide essential information about
findings help in the accurate diagnosis, staging, and risk stratification of Wilms Tumour,
20
Radiology also facilitates surgical planning by providing detailed anatomical information to
achieve complete tumour resection while preserving renal function. Furthermore, radiological
Tumour Evaluation:
The field of radiology is constantly evolving, and future advancements hold promise for further
improving the evaluation of Wilms Tumour. Some potential future directions and
functional MRI, diffusion-weighted imaging, and molecular imaging, may provide additional
information about tumour biology, microstructural changes, and molecular markers, aiding in
percutaneous biopsies and ablative techniques, may play a role in obtaining tissue samples for
histopathological confirmation and providing targeted treatment options for localized disease.
Artificial Intelligence (AI) and Machine Learning: Integration of AI and machine learning
algorithms into radiological practice has the potential to enhance the accuracy and efficiency
of image interpretation, allowing for automated tumour segmentation, risk stratification, and
may emerge as an area of interest, correlating radiological features with specific genetic
21
It is important for radiologists to stay updated with the latest research and technological
In conclusion, Wilms Tumour is a paediatric renal malignancy where radiology plays a pivotal
role in its diagnosis, staging, and management. With the continued advancements in
radiological techniques and integration of innovative approaches, the field holds great potential
for improving outcomes and tailoring treatment strategies for patients with Wilms Tumour.
22
REFERENCES
1. Dome JS, Huff V. Wilms Tumor Overview. 2003 [cited 2023 Jun 2]; Available from:
www.genetests.org
3. Brisse HJ, Smets AM, Kaste SC, Owens CM. Imaging in unilateral Wilms tumour.
2008;18–29.
4. Breslow N, Olshan A, Beckwith JB, Green DM. Epidemiology of Wilms tumor. Med
5. Meier CM, Furtwängler R, Mergen M, Welter N, Melchior P, Schenk JP, et al. Impact
9. Ruteshouser EC, Huff V. Familial Wilms tumor. Am J Med Genet - Semin Med Genet.
2004;129 C(1):29–34.
10. Felgenhauer JL, Barce JM, Benson RL, Nan B, Olson JM, Breslow NE. No excess of
23
early onset cancer in family members of Wilms tumor patients. Cancer.
2001;92(6):1606–12.
11. Lowe LH, Isuani BH, Heller RM, Stein SM, Johnson JE, Navarro OM, et al. Pediatric
sectional imaging (CT or MRI) in staging of Wilms’ tumours. Clin Radiol [Internet].
15. Silver IMF, Boag AH, Soboleski DA. Multilocular cystic renal Tumor: Cystic
http://www.ncbi.nlm.nih.gov/pubmed/26835318%0Ahttp://www.pubmedcentral.nih.g
ov/articlerender.fcgi?artid=PMC4728859
17. Kaste SC, Dome JS, Babyn PS, Graf NM, Grundy P, Godzinski J, et al. Wilms
tumour: Prognostic factors, staging, therapy and late effects. Pediatr Radiol.
2008;38(1):2–17.
18. Spreafico F, Fernandez C V., Brok J, Nakata K, Vujanic G, Geller JI, et al. Wilms
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