|Year : 2021 | Volume
| Issue : 2 | Page : 143-145
A large desmoid fibromatosis of mesentery presenting as ovarian tumor - A rare case report
Kavya Abhilashi1, Pratibha Kumari1, Satya Kumari1, Jyotsna Rani1, Zeenat Sarmadi Imam2, Manisha Kumari3, Vijayanand Choudhary4, Sangeeta Pankaj1
1 Department of Gynecological Oncology, SCI, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India
2 Department of Pathology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India
3 Department of Radio Diagnosis, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India
4 Department of Hematology (Pathology), Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India
|Date of Submission||26-Aug-2021|
|Date of Decision||03-Nov-2021|
|Date of Acceptance||08-Nov-2021|
|Date of Web Publication||6-Dec-2021|
Department of Gynecological Oncology, SCI, Indira Gandhi Institute of Medical Sciences, Patna - 800 014, Bihar
Source of Support: None, Conflict of Interest: None
Desmoid fibromatosis is a rare tumor of locally aggressive nature and associated with a high risk of recurrence. Although it possesses benign morphologies such as the absence of necrosis and atypical mitoses, it is classified as an intermediate malignant neoplasm due to its potential of infiltrating into the adjacent structures and the high rate of local recurrence even after excision. A 22-year-old unmarried female came with the complaint of abdominal pain and lump. The preoperative diagnosis was in favor of ovarian leiomyosarcoma but to the surprise intraoperative, tumor was found to be arising from mesentery of ileum. Following the complete resection, tumor was sent for histopathology. The histopathology examination report along with immunohistochemistry was suggestive of desmoids fibromatosis. Mesenteric desmoids fibromatosis is a rare tumor. It should be differentiated from gastrointestinal stromal tumor, leiomyoma, leiomyosarcoma, neurofibroma, and solitary fibrous tumor because of its completely different management and outcome. Histopathology and immunohistochemistry is the key for its diagnosis.
Keywords: Desmoid fibromatosis, gastrointestinal stromal tumor, leiomyosarcoma, mesentery
|How to cite this article:|
Abhilashi K, Kumari P, Kumari S, Rani J, Imam ZS, Kumari M, Choudhary V, Pankaj S. A large desmoid fibromatosis of mesentery presenting as ovarian tumor - A rare case report. J Indira Gandhi Inst Med Sci 2021;7:143-5
|How to cite this URL:|
Abhilashi K, Kumari P, Kumari S, Rani J, Imam ZS, Kumari M, Choudhary V, Pankaj S. A large desmoid fibromatosis of mesentery presenting as ovarian tumor - A rare case report. J Indira Gandhi Inst Med Sci [serial online] 2021 [cited 2022 Jan 23];7:143-5. Available from: http://www.jigims.co.in/text.asp?2021/7/2/143/331751
| Introduction|| |
Desmoid fibromatosis is a rare neoplasm arising from proliferation of fibroblasts accounting for about 0.03% of all neoplasm. Its etiopathogenesis is unclear and it mostly occurs in young females. Although histologically benign, these tumors are aggressive and show local recurrence even after excision. Here, we present a case of mesenteric desmoid fibroblastosis in a young female.
| Case Report|| |
A 22-year-old unmarried girl came to gynecological oncology OPD with a complaint of abdominal pain and lump for 5 months. The lump was gradually progressive in nature. Her menstrual cycles were regular, and there was no significant past medical, surgical, and family history. Before coming to IGIMS, she was evaluated at other hospitals where contrast-enhanced computed tomography (CECT) of abdomen and pelvis was done. Her CECT was suggestive of 23 cm × 16.8 cm × 11.9 cm heterogeneously enhancing solid noncalcified mass lesion arising from the right side of pelvis, and lumbar area crossing midline to left, compressing inferior vena cava, and right ureter. The right ovary was not seen separate from the mass whereas left ovary and uterus were normal [Figure 1]a. On the basis of the radiological finding, she had already undergone core biopsy from the mass, the report of which was mesenchymal tumor likely gastrointestinal stromal tumor (GIST). Immunohistochemistry (IHC) of the biopsy sample was also done there, which was positive for smooth muscle actin (SMA) and caldesmon and negative for CD117 and DOG-1 making the diagnosis as leiomyosarcoma. The patient presented to us with these radiological and pathological reports.
|Figure 1: Radiological and intraoperative image. (a) Contrast-enhanced computed tomography film showing sagittal section of the tumor. (b) Intraoperative image of the tumor arising from the mesentery|
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Findings of general physical examination were normal but on abdominal examination, there was a well-defined huge lump of 30 cm × 25 cm occupying whole of the abdominal cavity. The mass was nontender, of firm consistency with regular margin, and had restricted mobility. No ascites was demonstrated clinically. Routine blood tests were all within normal limits. The patient got tumor markers done and findings were within normal limit (CA-125 11.8UI/ml, CA-19-9 22.6 ng/ml, CEA 1.99 ng/ml, AFP 0.59 IU/ml, LDH 398 U/L, and beta HCG <1.2 mIU/ml). Following satisfactory preoperative workup, the patient underwent exploratory laparotomy. Intraoperatively, there was no ovarian mass and to our surprise, there was a large 30 cm × 25 cm solid tumor arising from the mesentery of ileum although not invading into the gut and had some flimsy adhesion with right ovary [Figure 1]b. The uterus, bilateral fallopian tubes, and ovaries were normal. Few paraaortic lymph nodes (LNs) were enlarged. Rest intraabdominal organ was normal and there was no ascites. The tumor was completely resected out without compromising the gut. Enlarged paraaortic LNs were also removed. The tumor mass and the LNs were sent for histopathology.
On gross examination, there was 23 cm × 22 cm × 10 cm single grey white well-encapsulated nodular mass. External surface was bosselated and congested. On cut section, there was gray white whorl-like area seen involving the whole specimen. Microscopy showed well-encapsulated lesion with proliferation of well-differentiated fibroblasts having an infiltrative pattern with the presence of collagen fibers between the cells of intermediate cellularity and cells were evenly scattered. No active mitotic activity was observed [Figure 2]a. The LNs showed reactive changes only.
|Figure 2: HPE and IHC slides. (a) (A) ×4 and (B) ×40 microscopic image of the tumor specimen showing spindle cells and collagen fibers. (b) (A) ×40 Microscopic image of beta-catenin staining, (B) ×40 microscopic image of Ki-67 staining|
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IHC was performed to differentiate it from leiomyosarcoma (as suggested by previous core biopsy and IHC). Beta-catenin and Ki-67 were performed. The specimen showed beta-catenin positivity (60%) and low positivity (2%) for Ki-67 [Figure 2]b. Thus, the diagnosis of desmoid fibromatosis was made. The patient was counseled regarding benign, but aggressive nature of tumor and need of surveillance for a longer period due to associated risk of recurrence.
| Discussion|| |
Desmoid fibromatosis is a rare with incidence of 2–5/million/year. Its pathogenesis is not completely understood and postulated to be associated with antecedent abdominal trauma, including surgery or hyperestrogenic states. The involvement of estrogenic disorders in its pathogenesis explains its high incidence in females with female-male ratio being 3: 1. It is frequently encountered in young pregnant or postpartum women of the age of 25–35 years. In the present case, the female was young in her third decade of life. It can be extra abdominal fibromatosis (60%), abdominal wall (25%), or intraabdominal fibromatosis (8%–15%). Intraabdominal desmoids usually arise in the mesentery and is most aggressive due to its ability of infiltrating the abdominal organs. In our case, the tumor was arising from mesentery of ileum and not invading the gut or other viscera.
Desmoid fibromatosis can be sporadic or may arise as the result of genetic disorders such as familial adenomatous polyposis (FAP) or Gardner syndrome. FAP-associated fibromatosis has an aggressive clinical course with increased rate of recurrences. However, the rate of recurrence in sporadic cases is very low. In the index case, the tumor was sporadic as well.
The clinical presentation of the patient in the present case was abdominal lump; however, it may vary depending on the location and size of tumor and in most patients, they are asymptomatic over time due to slow growth of the tumor. The tumor may cause intestinal obstruction or hydroureteronephrosis due to its mechanical effect. Sometimes, bleeding or intestinal perforations may occur due to ischemic events. Rarely complications such as intraabdominal abscesses, aortic rupture, or hepatic pneumatosis have been reported.
In the present case, the patient had already undergone preoperative core biopsy which was suggestive of mesenchymal tumor. In the literatures, authors have reported a preoperative biopsy but in most of the cases, diagnosis has been deferred to a definitive histological examination as the desmoid fibromatosis poses differential diagnostic problems with other tumors such as GIST, leiomyoma, leiomyosarcoma, solitary fibrous tumor, and neurofibroma. On IHC, leiomyoma and leiomyosarcoma express SMA, h-caldesmon, and desmin; however, they are beta-catenin negative. Desmoid fibromatosis also variably stains with SMA but unlike leiomyosarcoma and leiomyoma, it also stains positive for beta-catenin (80%). GIST stains for CD34, CD117, and DOG-1, which are usually absent in desmoid fibromatosis. Solitary fibrous tumors such as desmoid fibromatosis express CD34 but lack beta-catenin immune staining. Rarely sporadic neurofibroma arises in the mesentery and can be differentiated from desmoid fibromatosis as it lacks expression for SMA and desmin. In our case, also the final diagnosis of desmoid fibromatosis was reached by a histological examination and IHC which was positive for SMA, caldesmon, and beta-catenin and negative for CD117 and DOG-1.
The main treatment of mesenteric desmoids fibromatosis is wide surgical resection with tumor-free margins. Literatures have reported that positive margins to be associated with a higher rate of recurrence or a lower disease-free survival rate. In our case, although the tumor was huge, R0 resection was achieved without compromising the vital structures as the tumor was limited to the mesentery and not invading the small bowel. Adjuvant radiation and chemotherapy are not found useful in the cases of R0 resection, and patients with sporadic desmoids. de Bree et al. have reported that radiotherapy should be performed only in the cases where complete resection is not feasible or when margins are positive. Studies have shown that adjuvant radiotherapy, chemotherapy (methotrexate-vinblastine or anthracycline-based regimens), and systemic hormone therapy (tamoxifen) lead to objective response in 20%–75% of cases. The patient in our case is currently on follow-up without any adjuvant therapies.
| Conclusion|| |
The present case reports a rare case of huge mesenteric desmoid fibromatosis. Pathologist plays an important role in such cases as IHC-proven histopathological diagnosis is required because its differentials such as GIST and leiomyosarcoma have a completely different management. Long-term follow-up is required in these cases due to high risk of recurrence.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]