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Original Article

How to differentiate abdominal wall leiomyomas from


desmoid tumors?
Tommy Nai‑Jen Chang1,2, Ming‑Mo Hou2,3, Mohamed AbdelRahman1,2, Chih‑Wei Wang2,4, Li‑Jen Wang2,5,
Dennis S Kao1,2,6, Shao‑Chih Hsu2,7, Soo‑Ha Kwon1,2, Shih‑Yin Huang2,8, John Wen‑Cheng Chang2,3,
Chih‑Hung Lin1,2
Departments of 1Plastic and Reconstructive Surgery, 4Pathology, 5Medical Imaging and Intervention and 7Rehabilitation, Chang Gung
Memorial Hospital, 3Department of Internal Medicine, Division of Hematology‑Oncology, Chang Gung Memorial Hospital, 2College of
Medicine, Chang Gung University, Taoyuan, Taiwan, 8Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Keelung,
6
Department of Plastic and Reconstructive Surgery, University of Washington Medical Center, Seattle, USA

Abstract Background: Desmoid tumor and leiomyoma are abdominal wall tumors with similar clinical, radiographic,
and histological features. However, differentiation between these two diseases is important because each
may be linked to different systemic diseases, and their managements are entirely different. We proposed
that misdiagnosis is possible in some cases.
Patients and Methods: Between 1983 and 2010, patients with a history of uterine surgeries and diagnosed
with either abdominal wall desmoid tumors or leiomyomas were studied. All the images reviewed by an
independent radiologist and surgical specimen were reexamined by immunohistochemistry (IHC) techniques
as a standard method to confirm the diagnoses.
Results: Fifteen female patients (desmoid tumors, n = 10; leiomyomas, n = 5) were included. The diagnosis
of IHC revealed that two cases initially thought to be leiomyomas were desmoid tumors, whereas the
remaining 13 cases maintained their initial diagnoses. The accuracy of hematoxylin and eosin staining
was 86.7%. All tumors excised without complications, except for one desmoid tumor that recurred and
underwent another excision.
Conclusion: Preoperative magnetic resonance imaging (MRI) can be considered to differentiate the two
diseases, as well as the elimination of other associated systemic diseases should be performed routinely. If
MRI is inaccessible or unavailable, preoperative fine‑needle biopsy is recommended. Optional IHC staining
is required if the primary histological assessment is equivocal or inconclusive.

Keywords: Abdominal wall leiomyoma, desmoid tumor, immunohistochemistry staining, magnetic resonance
imaging

Address for correspondence: Prof. Chih‑Hung Lin, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Chia‑Yi Branch, No. 6,
West Chia‑Pu Road, Putz, Chia‑Yi, Taiwan.
E‑mail: profchlin@gmail.com
Received: 31‑Oct‑2018, Revised: 24‑Dec‑2018, Accepted: 26‑Mar‑2019

This is an open access journal, and articles are distributed under the terms of the Creative
Access this article online
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For reprints contact: reprints@medknow.com

DOI: How to cite this article: Chang TN, Hou MM, AbdelRahman M, Wang CW,
10.4103/fjs.fjs_115_18 Wang LJ, Kao DS, et al. How to differentiate abdominal wall leiomyomas
from desmoid tumors?. Formos J Surg 2019;52:127-32.

© 2019 Formosan Journal of Surgery | Published by Wolters Kluwer - Medknow 127


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Chang, et al.: Abdominal wall leiomyomas and desmoid tumors

INTRODUCTION abdominal wall leiomyomas only require simple excision


without the need for any adjuvant therapy.[12]
Abdominal wall leiomyomas are extremely rare and
are thought to originate from ectopic implantation of To the best of our knowledge and research, there is no
uterine tissue after uterine surgery, such as cesarean published literature discussing the similarity and the
section (C/S), hysterectomy, or uterine myomectomy. On difficulty in differentiating between these two diseases.
the other hand, most abdominal wall tumors are desmoid In order to confirm the diagnoses of these two diseases,
tumors.[1‑4] Clinically, they both occur predominantly in we performed IHC stain as the final diagnoses comparing
females, especially during their reproductive years, and in with the H and E stain. We also reviewed the medical
association with a history of abdominal or pelvic surgery. history of the enrolled patients, including the interval
Radiologically, both magnetic resonance imaging (MRI) and of diagnosed abdominal wall leiomyomas or desmoid
computed tomography (CT) are useful in the evaluation tumors to abdominal intervention and type, and the clinical
of the size, extent, and the relation of these lesions to outcomes. In this article, we share our clinical experience
the adjacent structures. Although MRI can effectively and try to figure out the best way to deal with these two
differentiate desmoid tumors from leiomyomas, its abdominal tumors.
high‑cost and time‑consuming nature may block it to
become a routinely ordered screening test.[5] Histologically, PATIENTS AND METHODS
leiomyomas come from the overgrowth of smooth muscle
cells, whereas desmoid tumors originate from clonal Between 1983 and 2010, all patients with diagnosed
proliferation of fibroblasts. At times, it can be difficult to abdominal wall desmoid tumor or leiomyoma (by
distinguish desmoid tumors from leiomyomas based on cell H and E stain) were enrolled in the study at Chang‑Gung
morphology alone using hematoxylin and eosin (H and E) Memorial Hospital. However, in order to equalize the
stain because they look extremely similar; consequently, condition between these two groups, only females with
misdiagnosis may occur. Immunohistochemical (IHC) stain a history of uterine surgery were selected in the study.
can be a helpful verification test because leiomyomas stain A total of ten patients with desmoid tumors and five
results positive for smooth muscle actin, whereas desmoid patients with leiomyomas were included in our study.
tumors stain negative. Although studies of these two stains Demographic data including sex, age, timing and the type
are critical in the diagnosis of these two rare diseases, they of previous uterine intervention, the results of H and E
are not routinely performed in clinical practice due to staining, related systemic diseases, and clinical outcome
cost‑effectiveness. were all collected. The types of uterine interventions
included C/S, myomectomy, and hysterectomy. All
Any misdiagnosis may have significant clinical implications pathologic specimens were re‑examined by IHC staining
because both abdominal wall leiomyomas and desmoid to compare with the previous diagnosis made by H and E
tumors may present as part of a systemic disease. Desmoid stain.
tumors can be sporadic or a part of familial adenomatous
polyposis (FAP), and abdominal wall leiomyomas can also RESULTS
be a part of hereditary leiomyomastosis and renal cell
cancer syndrome (HLRCCS), leiomyomastosis peritonealis Fifteen female patients with a median age of 31 years
disseminate (LPD), and human immunodeficiency (range, 26–56 years) were enrolled in the study and
virus (HIV) infection.[6‑8] Therefore, diagnosis must be their characteristics are shown in Table 1. On CT
made accurately because the clinical course, treatment, scan, leiomyomas are typically well defined with
and outcome are completely different between these two strong enhancement after contrast administration,
diseases. Even if desmoid tumors or leiomyomas are but desmoid tumors may be hypodense, isodense,
proven to be the sporadic type, their treatments are still or hyperdense to muscle densities both before and
different. Although surgical resection is the gold standard after contrast administration [Figure 1]. All surgical
for both diseases, desmoid tumors usually require a much specimens confirmed the diagnoses by IHC. The
wider margin of resection to ensure tumor clearance and desmoid tumors were composed of slender spindle cells
to minimize recurrence because they tend to infiltrate into but did not contain smooth muscle actin, with bland
the adjacent fascia and muscle.[9] Adjuvant therapy such as nuclei in a collagenous stroma. Furthermore, they are
radiotherapy, chemotherapy, and endocrine therapy can usually poorly circumscribed with infiltrative borders
be used to treat local recurrences, or positive resection as shown in Figure 2a. On the other hand, leiomyomas
margin if operation is not indicated.[10,11] On the other hand, were composed of spindle cells that contain smooth
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Chang, et al.: Abdominal wall leiomyomas and desmoid tumors

Table 1: Detailed demographic data of the reported cases


Case Sex Age Previous surgical Interval of previous intervention Systemic Diagnosis on IHC stain
intervention and this event disease H and E stain verification
1 Female 36 C/S twice 76 and 51 months FAP Desmoid tumor Same
2 Female 27 C/S twice Unknown No Desmoid tumor Same
3 Female 42 Abdominal total hysterectomy 24 months No Desmoid tumor Same
4 Female 29 C/S twice Unknown No Desmoid tumor Same
5 Female 35 C/S twice Unknown No Desmoid tumor Same
6 Female 26 C/S once Unknown No Desmoid tumor Same
7 Female 31 C/S three times 84, 60, and 6 months No Desmoid tumor Same
8 Female 33 C/S once 24 months No Desmoid tumor Same
9 Female 31 C/S once 3 months No Desmoid tumor Same
10 Female 29 C/S once 18 months No Desmoid tumor Same
11 Female 31 C/S once 12 months No Leiomyoma Desmoid tumor
12 Female 36 Myomectomy once 55 months No Leiomyoma Same
13 Female 36 Myomectomy twice 105 and 60 months No Leiomyoma Same
14 Female 29 C/S once Unknown No Leiomyoma Desmoid tumor
15 Female 56 Abdominal total hysterectomy, 150 months (ATH) LPD Leiomyoma Same
C/S 4 times
FAP: Familial adenomatous polyposis, LPD: Leiomyomatosis peritonealis disseminate, ATH: Abdominal total hysterectomy,
IHC: Immunohistochemistry, C/S: Cesarean section, H and E: Hematoxylin and eosin

a b
Figure 2: The histological examination of case 2. (a) The tumor is
composed of slender spindle cells. It shows an infiltrative border with the
adjacent skeletal muscles (hematoxylin and eosin, ×200). (b) The spindle
cells are negative for smooth muscle actin (immunohistochemical,
a ×200). The diagnosis was confirmed of desmoid tumor

H and E stain (by the different appearance of their


spindle cell morphology and stroma), some cases contain
morphological characteristics of both tumors, rendering
the correct diagnosis difficult, as demonstrated in the case
shown in Figure 4a. Desmoid tumors, which stain negative
for smooth muscle actin [Figure 2b], can readily be
distinguished from leiomyomas, which stain positive for
smooth muscle actin [Figure 3b]. In our series, two cases
of previously diagnosed leiomyomas were overturned
b
after IHC stain verification [Figure 4b]. The IHC staining
Figure 1: Abdominal CT images of desmoid tumors and leiomyomas. (a)
Enhanced abdominal CT shows an enhanced mass (arrowhead)
revealed that two out of the five “diagnosed” leiomyomas
of the left lateral abdominal wall beneath the left external oblique by previous H and E stain were overturned and verified to
muscle. The radiological impression was leiomyomas; however, the be desmoid tumors after IHC stain validation. Meanwhile,
final histological diagnosis shifted to desmoid tumor (case 11). (b)
Enhanced abdominal CT shows a heterogeneous mass (arrowhead)
after IHC staining, all the ten cases of desmoid tumors
with strong enhancement in the left external oblique abdominal muscle. maintained their initial pathological diagnoses. Out of
The radiological impression from CT scan showed leiomyoma, and the the ten desmoid tumor cases, only one was FAP, whereas
histological examinations confirmed it as well (case 12). CT: Computed
all others were of sporadic type. In addition, only one
tomograph
case of abdominal wall leiomyoma was LPD, with the
muscle actin, with blunt‑ended nuclei and eosinophilic remainder being of sporadic type. All patients underwent
cytoplasm without a collagenous stroma. They are also excision with clear surgical margins and no immediate
usually well circumscribed [Figure 3a]. Although these postoperative complications. One case of desmoid tumor
two tumors can be usually distinguished using routine recurred and underwent another surgical excision.
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Chang, et al.: Abdominal wall leiomyomas and desmoid tumors

a b a b
Figure 3: The histological examination of case 12. (a) The tumor is Figure 4: The histological examination of case 14. (a) The tumor is
well circumscribed and composed of spindle cells showing blunt‑ended composed of spindle cells showing blunt‑ended nuclei and eosinophilic
nuclei and eosinophilic cytoplasm (H and E, ×200). (b) The spindle cells cytoplasm. An infiltrative border with the adjacent skeletal muscles
are positive for smooth muscle actin (immunohistochemical, ×200). is seen (H and E, ×200). (b) The spindle cells are negative for
The diagnosis was confirmed of leiomyoma smooth muscle actin, the corrected diagnosis overturned to desmoid
tumor (immunohistochemical, ×200)
DISCUSSION
by mutations in the catenin gene, CTNNB1, or the
To the best of our knowledge, the references of abdominal adenomatous polyposis coli gene (APC). Proof of a
wall leiomyomas in the English literature are limited. Before CTNNB1 mutation may be useful when the pathological
2011, among the eight cases reported in the literature, only differential diagnosis is difficult and location might be
three cases were verified using IHC stain. Therefore, it may predictive of disease recurrence.[17] Preoperational biopsy
be reasonable to realize that the misdiagnoses occurred in should be performed in cases with uncertain diagnosis.
our past practice. Abdominal wall leiomyoma and desmoid Retrospective revision of final diagnosis does not make
tumor are thought to be relatively minor diseases without any sense and could not help the patients. Furthermore,
much research interest, thereby limiting our understanding it is crucial to rule out any systemic disease association,
of their pathogenesis. In addition, the lack of preoperative as the management of leiomyomas and desmoid tumors
systemic surveys of patients and the rare usage of IHC in such instances can be very complicated. Patients with
staining in previous case reports significantly increased desmoid tumors should be thoroughly investigated for
the likelihood of misdiagnoses, as witnessed in the FAP, including family history, examination for polyps in
retrospective review of cases at our institutional study. the gastrointestinal tract, as well as APC gene mutations
because patients with FAP have an increased risk for
Over the years, many authors have reported that past developing colorectal cancer during their early adult life.[8]
history of C/S and uterine myotomy operations are both Similarly, abdominal wall leiomyomas can be part of a
risk factors for the development of leiomyomas.[3,4,12] This systemic disease or syndrome such as HLRCCS, LPD, and
is theoretically attributed to the uterine smooth muscle HIV infection.[8]
tissue being ectopically implanted into the adjacent
structures during surgery, hence growing to form tumors On CT, leiomyomas are typically well defined with strong
in many sites such as the broad ligaments, ovaries, vagina, enhancement after contrast administration, but desmoid
and inferior vena cava. Thus, previous claims of C/S tumors may be hypodense, isodense, or hyperdense to muscle
being a risk factor for the development of abdominal densities both before and after contrast administration; the
leiomyomas maybe solely based on histological diagnosis nonspecific appearance of desmoid tumors on CT scan
using H and E staining (as opposed to IHC stain), which may make this modality less useful.[5,12,18,19] On the other
may be inaccurate. However, such a claim would need more hand, using MRI, leiomyomas usually appear isointense
case reports and studies with a larger sample population on T1‑weighted images (T1WIs) and with low signal
to be confirmed.[13‑16] intensity on T2‑weighted images (T2WIs) as compared
to the myometrium.[20] The MRI appearance of desmoid
It is difficult to differentiate between desmoid tumors tumors varies according to their three stages as described
and leiomyomas by cell morphology; however, IHC by Vandevenne et al. At the first stage, desmoid tumors
stain (which stains for smooth muscle actin) can offer a have low signal intensity on T1WI and predominantly
definite diagnosis.[3] In our study, there was a misdiagnosis high signal intensity on T2WI. At the second stage, they
of desmoid tumor as abdominal wall leiomyoma because become more heterogeneous in signal intensity on T2WI
of using H and E staining only. It is because IHC was not by increased low signal intensity parts. The presence of
available at our institute at that moment. More advanced, high signal intensity of desmoid tumors in Stage I or II
molecular diagnosis should be applied in selective cases. differs from the low signal intensity of leiomyomas on
On the molecular level, desmoids are characterized T2WI. At the third stage, desmoid tumors have low signal
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Chang, et al.: Abdominal wall leiomyomas and desmoid tumors

intensity on both T1WI and T2WI, in contrast to isointense Nevertheless, the differentiation between desmoid tumor
appearances of leiomyomas on T1WI.[5,21‑23] and abdominal wall leiomyoma as well as the elimination
of other associated systemic diseases should be performed
In order to clarify these two diseases in clinic, we summarized routinely. This can be established through imaging via MRI.
the similarities and differentiations of desmoid tumor and If MRI is not accessible, preoperative fine‑needle aspiration
abdominal wall leiomyoma in Table 2. We also proposed or incisional biopsy should be performed (for H and E
an algorithmic approach to help the management of these stains, and optional IHC staining to rule out the presence of
two diseases [Figure 5]. It addresses the presentation, muscular actin). In addition, every patient should undergo
differentiation, and detailed management of both tumors. a thorough preoperative systemic survey to rule out any
The algorithm is meant to provide a simple and clear associated systemic diseases and syndromes that these
method of differentiation between these two tumors tumors can be part of them.
and provide a general guidance for their management.
The limitation of this article is small number of patients;
Upon encountering an abdominal wall tumor, desmoid
a lot of clinical data were unavailable because the patients
tumors should always be in the differential diagnosis. were traced retrospectively and the diseases were thought
to be of minor intensity. Besides, although from literature
review we identified that MRI can efficiently differentiate
between these two diseases, the MRI study was scarce
in our series. Although this is a retrospective study and
we found that the previous interventions between these
two diseases are the same, we found that these two
diseases have a possible link to other systemic diseases
and the misconduct may become the disaster toward the
patient.   Furthermore, complications were not present in
our series; even though the cases overturn the diagnosis
after IHC stain confirmation, we still prefer more detailed
systemic studies for these two diseases for the accurate
diagnosis and treatment in future.

CONCLUSION
Figure 5: The proposed algorithm to the differentiation and management
of desmoid and abdominal wall leiomyomas. Preop: Preoperative, While patients are diagnosed with leiomyomas or desmoid
MRI: Magnetic resonance imaging, ICH: Immunohistochemistry, tumors, IHC stain and MRI can be considered to
FAP: Familial adenomatous polyposis, HLRCCS: Hereditary
leiomyomatosis peritonealis disseminate, HIV: Human immunodeficiency differentiate the diagnosis of the two morphologies – similar
virus tumors – whenever possible. It is important to differentiate

Table 2: Characteristics of desmoid tumor and abdominal wall leiomyoma clinically, radiologically, and histologically
Desmoid tumor Abdominal wall leiomyoma
Clinical
Characteristics Predominantly in females, especially during their reproductive years, and in association with a history of
abdominal or pelvic surgery
Radiological
CT (compared with muscle densities)
Without enhancement Maybe hypodense, isodense, or hyperdense to muscle Hypodense or isodense
With enhancement Well defined with strong enhancement
MRI (compared to the myometrium)
T1WI 1st stage: Hypointensity Isointense
2nd stage: Hypointensity
3rd stage: Hypointensity
T2WI 1st stage: Hyperintensity Hypointensity
2nd stage: Heterogeneous (increased low signal intensity parts)
3rd stage: Hypointensity
Histological
H and E stain Difficult to distinguish in between
IHC stain Negative for smooth muscle actin Positive for smooth muscle actin
CT: Computed tomography, MRI: Magnetic resonance imaging, T1W1: T1‑weighted image, T2W1: T2‑weighted image, H and E: Hematoxylin and
eosin, IHC: Immunohistochemistry

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Chang, et al.: Abdominal wall leiomyomas and desmoid tumors

between abdominal wall leiomyoma and desmoid tumors, as et al. Mutations in the fumarate hydratase gene cause hereditary
leiomyomatosis and renal cell cancer in families in North America.
the management and possible associated systemic diseases
Am J Hum Genet 2003;73:95‑106.
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10. Mullen JT, Delaney TF, Kobayashi WK, Szymonifka J, Yeap BY,
Ethical approval Chen YL, et al. Desmoid tumor: Analysis of prognostic factors and
outcomes in a surgical series. Ann Surg Oncol 2012;19:4028‑35.
This study has been approved by Chang Gung Medical 11. Couto Netto SD, Teixeira F, Menegozzo CA, Leão‑Filho HM,
Foundation Institutional Review Board (IRB No.: Albertini A, Ferreira FO, et al. Sporadic abdominal wall desmoid type
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There are no conflicts of interest. surgical treatment. Apropos of 2 retrohepatic localizations. Acta Chir
Belg 1991;91:11‑6.
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