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 Table of Contents  
ORIGINAL ARTICLE
Year : 2019  |  Volume : 52  |  Issue : 4  |  Page : 127-132

How to differentiate abdominal wall leiomyomas from desmoid tumors?


1 Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital; College of Medicine, Chang Gung University, Taoyuan, Taiwan
2 College of Medicine, Chang Gung University; Department of Internal Medicine, Division of Hematology-Oncology, Chang Gung Memorial Hospital, Taoyuan, Taiwan
3 College of Medicine, Chang Gung University; Department of Pathology, Chang Gung Memorial Hospital, Taoyuan, Taiwan
4 College of Medicine, Chang Gung University; Department of Medical Imaging and Intervention and Chang Gung Memorial Hospital, Taoyuan, Taiwan
5 Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Plastic and Reconstructive Surgery, University of Washington Medical Center, Seattle, USA
6 College of Medicine, Chang Gung University; Department of Rehabilitation, Chang Gung Memorial Hospital, Taoyuan, Taiwan
7 College of Medicine, Chang Gung University, Taoyuan; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Keelung, Taiwan

Date of Submission31-Oct-2018
Date of Decision24-Dec-2018
Date of Acceptance26-Mar-2019
Date of Web Publication27-Aug-2019

Correspondence Address:
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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/fjs.fjs_115_18

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  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


How to cite this article:
Chang TN, Hou MM, AbdelRahman M, Wang CW, Wang LJ, Kao DS, Hsu SC, Kwon SH, Huang SY, Chang JW, Lin CH. How to differentiate abdominal wall leiomyomas from desmoid tumors?. Formos J Surg 2019;52:127-32

How to cite this URL:
Chang TN, Hou MM, AbdelRahman M, Wang CW, Wang LJ, Kao DS, Hsu SC, Kwon SH, Huang SY, Chang JW, Lin CH. How to differentiate abdominal wall leiomyomas from desmoid tumors?. Formos J Surg [serial online] 2019 [cited 2019 Nov 19];52:127-32. Available from: http://www.e-fjs.org/text.asp?2019/52/4/127/265486




  Introduction Top


Abdominal wall leiomyomas are extremely rare and are thought to originate from ectopic implantation of uterine tissue after uterine surgery, such as cesarean section (C/S), hysterectomy, or uterine myomectomy. On the other hand, most abdominal wall tumors are desmoid tumors.[1],[2],[3],[4] Clinically, they both occur predominantly in females, especially during their reproductive years, and in association with a history of abdominal or pelvic surgery. Radiologically, both magnetic resonance imaging (MRI) and computed tomography (CT) are useful in the evaluation of the size, extent, and the relation of these lesions to the adjacent structures. Although MRI can effectively differentiate desmoid tumors from leiomyomas, its high-cost and time-consuming nature may block it to become a routinely ordered screening test.[5] Histologically, leiomyomas come from the overgrowth of smooth muscle cells, whereas desmoid tumors originate from clonal proliferation of fibroblasts. At times, it can be difficult to distinguish desmoid tumors from leiomyomas based on cell morphology alone using hematoxylin and eosin (H and E) stain because they look extremely similar; consequently, misdiagnosis may occur. Immunohistochemical (IHC) stain can be a helpful verification test because leiomyomas stain results positive for smooth muscle actin, whereas desmoid tumors stain negative. Although studies of these two stains are critical in the diagnosis of these two rare diseases, they are not routinely performed in clinical practice due to cost-effectiveness.

Any misdiagnosis may have significant clinical implications because both abdominal wall leiomyomas and desmoid tumors may present as part of a systemic disease. Desmoid tumors can be sporadic or a part of familial adenomatous polyposis (FAP), and abdominal wall leiomyomas can also be a part of hereditary leiomyomastosis and renal cell cancer syndrome (HLRCCS), leiomyomastosis peritonealis disseminate (LPD), and human immunodeficiency virus (HIV) infection.[6],[7],[8] Therefore, diagnosis must be made accurately because the clinical course, treatment, and outcome are completely different between these two diseases. Even if desmoid tumors or leiomyomas are proven to be the sporadic type, their treatments are still different. Although surgical resection is the gold standard for both diseases, desmoid tumors usually require a much wider margin of resection to ensure tumor clearance and to minimize recurrence because they tend to infiltrate into the adjacent fascia and muscle.[9] Adjuvant therapy such as radiotherapy, chemotherapy, and endocrine therapy can be used to treat local recurrences, or positive resection margin if operation is not indicated.[10],[11] On the other hand, abdominal wall leiomyomas only require simple excision without the need for any adjuvant therapy.[12]

To the best of our knowledge and research, there is no published literature discussing the similarity and the difficulty in differentiating between these two diseases. In order to confirm the diagnoses of these two diseases, we performed IHC stain as the final diagnoses comparing with the H and E stain. We also reviewed the medical history of the enrolled patients, including the interval of diagnosed abdominal wall leiomyomas or desmoid tumors to abdominal intervention and type, and the clinical outcomes. In this article, we share our clinical experience and try to figure out the best way to deal with these two abdominal tumors.


  Patients and Methods Top


Between 1983 and 2010, all patients with diagnosed abdominal wall desmoid tumor or leiomyoma (by H and E stain) were enrolled in the study at Chang-Gung Memorial Hospital. However, in order to equalize the condition between these two groups, only females with a history of uterine surgery were selected in the study. A total of ten patients with desmoid tumors and five patients with leiomyomas were included in our study. Demographic data including sex, age, timing and the type of previous uterine intervention, the results of H and E staining, related systemic diseases, and clinical outcome were all collected. The types of uterine interventions included C/S, myomectomy, and hysterectomy. All pathologic specimens were re-examined by IHC staining to compare with the previous diagnosis made by H and E stain.


  Results Top


Fifteen female patients with a median age of 31 years (range, 26–56 years) were enrolled in the study and their characteristics are shown in [Table 1]. On CT scan, leiomyomas are typically well defined with strong enhancement after contrast administration, but desmoid tumors may be hypodense, isodense, or hyperdense to muscle densities both before and after contrast administration [Figure 1]. All surgical specimens confirmed the diagnoses by IHC. The desmoid tumors were composed of slender spindle cells but did not contain smooth muscle actin, with bland nuclei in a collagenous stroma. Furthermore, they are usually poorly circumscribed with infiltrative borders as shown in [Figure 2]a. On the other hand, leiomyomas were composed of spindle cells that contain smooth muscle actin, with blunt-ended nuclei and eosinophilic cytoplasm without a collagenous stroma. They are also usually well circumscribed [Figure 3]a. Although these two tumors can be usually distinguished using routine 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 4]a. Desmoid tumors, which stain negative for smooth muscle actin [Figure 2]b, can readily be distinguished from leiomyomas, which stain positive for smooth muscle actin [Figure 3]b. In our series, two cases of previously diagnosed leiomyomas were overturned after IHC stain verification [Figure 4]b. The IHC staining revealed that two out of the five “diagnosed” leiomyomas by previous H and E stain were overturned and verified to be desmoid tumors after IHC stain validation. Meanwhile, after IHC staining, all the ten cases of desmoid tumors maintained their initial pathological diagnoses. Out of the ten desmoid tumor cases, only one was FAP, whereas all others were of sporadic type. In addition, only one case of abdominal wall leiomyoma was LPD, with the remainder being of sporadic type. All patients underwent excision with clear surgical margins and no immediate postoperative complications. One case of desmoid tumor recurred and underwent another surgical excision.
Table 1: Detailed demographic data of the reported cases

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Figure 1: Abdominal CT images of desmoid tumors and leiomyomas. (a) Enhanced abdominal CT shows an enhanced mass (arrowhead) of the left lateral abdominal wall beneath the left external oblique muscle. The radiological impression was leiomyomas; however, the final histological diagnosis shifted to desmoid tumor (case 11). (b) Enhanced abdominal CT shows a heterogeneous mass (arrowhead) with strong enhancement in the left external oblique abdominal muscle. The radiological impression from CT scan showed leiomyoma, and the histological examinations confirmed it as well (case 12). CT: Computed tomograph

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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, ×200). The diagnosis was confirmed of desmoid tumor

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Figure 3: The histological examination of case 12. (a) The tumor is well circumscribed and composed of spindle cells showing blunt-ended nuclei and eosinophilic cytoplasm (H and E, ×200). (b) The spindle cells are positive for smooth muscle actin (immunohistochemical, ×200). The diagnosis was confirmed of leiomyoma

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Figure 4: The histological examination of case 14. (a) The tumor is composed of spindle cells showing blunt-ended nuclei and eosinophilic cytoplasm. An infiltrative border with the adjacent skeletal muscles is seen (H and E, ×200). (b) The spindle cells are negative for smooth muscle actin, the corrected diagnosis overturned to desmoid tumor (immunohistochemical, ×200)

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  Discussion Top


To the best of our knowledge, the references of abdominal wall leiomyomas in the English literature are limited. Before 2011, among the eight cases reported in the literature, only three cases were verified using IHC stain. Therefore, it may be reasonable to realize that the misdiagnoses occurred in our past practice. Abdominal wall leiomyoma and desmoid tumor are thought to be relatively minor diseases without much research interest, thereby limiting our understanding of their pathogenesis. In addition, the lack of preoperative systemic surveys of patients and the rare usage of IHC staining in previous case reports significantly increased the likelihood of misdiagnoses, as witnessed in the retrospective review of cases at our institutional study.

Over the years, many authors have reported that past history of C/S and uterine myotomy operations are both risk factors for the development of leiomyomas.[3],[4],[12] This is theoretically attributed to the uterine smooth muscle tissue being ectopically implanted into the adjacent structures during surgery, hence growing to form tumors in many sites such as the broad ligaments, ovaries, vagina, and inferior vena cava. Thus, previous claims of C/S being a risk factor for the development of abdominal leiomyomas maybe solely based on histological diagnosis using H and E staining (as opposed to IHC stain), which may be inaccurate. However, such a claim would need more case reports and studies with a larger sample population to be confirmed.[13],[14],[15],[16]

It is difficult to differentiate between desmoid tumors and leiomyomas by cell morphology; however, IHC stain (which stains for smooth muscle actin) can offer a definite diagnosis.[3] In our study, there was a misdiagnosis of desmoid tumor as abdominal wall leiomyoma because of using H and E staining only. It is because IHC was not available at our institute at that moment. More advanced, molecular diagnosis should be applied in selective cases. On the molecular level, desmoids are characterized by mutations in the catenin gene, CTNNB1, or the adenomatous polyposis coli gene (APC). Proof of a CTNNB1 mutation may be useful when the pathological differential diagnosis is difficult and location might be predictive of disease recurrence.[17] Preoperational biopsy should be performed in cases with uncertain diagnosis. Retrospective revision of final diagnosis does not make any sense and could not help the patients. Furthermore, it is crucial to rule out any systemic disease association, as the management of leiomyomas and desmoid tumors in such instances can be very complicated. Patients with desmoid tumors should be thoroughly investigated for FAP, including family history, examination for polyps in the gastrointestinal tract, as well as APC gene mutations because patients with FAP have an increased risk for developing colorectal cancer during their early adult life.[8] Similarly, abdominal wall leiomyomas can be part of a systemic disease or syndrome such as HLRCCS, LPD, and HIV infection.[8]

On CT, leiomyomas are typically well defined with strong enhancement after contrast administration, but desmoid tumors may be hypodense, isodense, or hyperdense to muscle densities both before and after contrast administration; the nonspecific appearance of desmoid tumors on CT scan may make this modality less useful.[5],[12],[18],[19] On the other hand, using MRI, leiomyomas usually appear isointense on T1-weighted images (T1WIs) and with low signal intensity on T2-weighted images (T2WIs) as compared to the myometrium.[20] The MRI appearance of desmoid tumors varies according to their three stages as described by Vandevenne et al. At the first stage, desmoid tumors have low signal intensity on T1WI and predominantly high signal intensity on T2WI. At the second stage, they become more heterogeneous in signal intensity on T2WI by increased low signal intensity parts. The presence of high signal intensity of desmoid tumors in Stage I or II differs from the low signal intensity of leiomyomas on T2WI. At the third stage, desmoid tumors have low signal intensity on both T1WI and T2WI, in contrast to isointense appearances of leiomyomas on T1WI.[5],[21],[22],[23]

In order to clarify these two diseases in clinic, we summarized the similarities and differentiations of desmoid tumor and abdominal wall leiomyoma in [Table 2]. We also proposed an algorithmic approach to help the management of these two diseases [Figure 5]. It addresses the presentation, differentiation, and detailed management of both tumors. The algorithm is meant to provide a simple and clear method of differentiation between these two tumors and provide a general guidance for their management. Upon encountering an abdominal wall tumor, desmoid tumors should always be in the differential diagnosis. Nevertheless, the differentiation between desmoid tumor and abdominal wall leiomyoma as well as the elimination of other associated systemic diseases should be performed routinely. This can be established through imaging via MRI. If MRI is not accessible, preoperative fine-needle aspiration or incisional biopsy should be performed (for H and E stains, and optional IHC staining to rule out the presence of muscular actin). In addition, every patient should undergo a thorough preoperative systemic survey to rule out any associated systemic diseases and syndromes that these tumors can be part of them.
Table 2: Characteristics of desmoid tumor and abdominal wall leiomyoma clinically, radiologically, and histologically

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Figure 5: The proposed algorithm to the differentiation and management of desmoid and abdominal wall leiomyomas. Preop: Preoperative, MRI: Magnetic resonance imaging, ICH: Immunohistochemistry, FAP: Familial adenomatous polyposis, HLRCCS: Hereditary leiomyomatosis peritonealis disseminate, HIV: Human immunodeficiency virus

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The limitation of this article is small number of patients; a lot of clinical data were unavailable because the patients 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 Top


While patients are diagnosed with leiomyomas or desmoid tumors, IHC stain and MRI can be considered to differentiate the diagnosis of the two morphologies – similar tumors – whenever possible. It is important to differentiate between abdominal wall leiomyoma and desmoid tumors, as the management and possible associated systemic diseases are quite different. The proposed algorithm is a useful guide to minimize the misdiagnosis in clinic.

Ethical approval

This study has been approved by Chang Gung Medical Foundation Institutional Review Board (IRB No.: 201801523B0C501), the duration of the approval was between January 18, 2019, and May 11, 2019. The IRB is organized and operates in accordance with Good Clinical Practice and the applicable laws and regulations.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
 
 
    Tables

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