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LETTER TO EDITOR
Year : 2011  |  Volume : 48  |  Issue : 1  |  Page : 140-142
 

Giant mesenteric fibromatosis in Gardner's syndrome


Department of Medical Oncology, The Gujarat Cancer and Research Institute, Ahmedabad, Gujarat, India

Date of Web Publication10-Feb-2011

Correspondence Address:
B A Vaswani
Department of Medical Oncology, The Gujarat Cancer and Research Institute, Ahmedabad, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-509X.76652

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How to cite this article:
Vaswani B A, Shah M, Shah P M, Parikh B J, Anand A S, Sharma G L. Giant mesenteric fibromatosis in Gardner's syndrome. Indian J Cancer 2011;48:140-2

How to cite this URL:
Vaswani B A, Shah M, Shah P M, Parikh B J, Anand A S, Sharma G L. Giant mesenteric fibromatosis in Gardner's syndrome. Indian J Cancer [serial online] 2011 [cited 2019 Aug 21];48:140-2. Available from: http://www.indianjcancer.com/text.asp?2011/48/1/140/76652


Sir,

A 32-year-old male presented with 6 months' history of colicky pain in abdomen, intermittent bleeding per rectum for 6 months, and vomiting after meals for 15 days. There was no history of fever, altered bowel, or bladder habits. He gave no history of trauma, surgery, or drugs consumed in the past. Family history revealed that his mother died due to intestinal obstruction in 2001 at the age of 44 years (no diagnosis is available). General examination of the patient showed the presence of frontal and maxillary osteomas [Figure 1].
Figure 1: Presence of frontal and maxillary osteomas

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On investigation, the hematological profile was found to be normal. X-ray of the abdomen showed prominent dilated small bowel loops with air fluid level suggestive of acute intestinal obstruction. Ultrasonography and computed tomography of the abdomen pelvis showed large, well-defined, predominantly homogenously enhancing, soft tissue density mass lesion measuring 15 × 8 × 7 cm in central and lower mesentery, engulfing and narrowing jejunal and ileal bowel loop with proximal dilatation of bowel loops.

An exploratory laparotomy was performed which showed a large solid mass in the mesentery near the jejunum with common blood supply, but free from the abdominal wall. Wide excision of the mass was performed with resection of the local loop of jejunum, appendix, and large bowel [Figure 2]. The mass was 16 × 10 × 9 cm in size (weight 1600 g). Large bowel showed the presence of multiple polyps [Figure 3]. Histopathology revealed the evidence of interwoven bundles of spindle cells with collagen with few mitoses and the absence of nucleus separations indicating a mesenteric desmoid tumor [Figure 4]. The resection margins were free of tumor.
Figure 2: Mesenteric fibroma with attached loop of small bowel

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Figure 3: Larger bowel with the presence of multiple polyps

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Figure 4: Fibroblast in a collagenous stroma (H and E, ×10)

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Patient had mesenteric fibromatosis, multiple polyps, and fibromas suggestive of Gardner's syndrome.

Mesenteric fibromatosis (MF) is rare (2-4 cases/million/year). [1] It is locally invasive and tends to recur but does not metastasize. MF is a desmoid tumor that may occur in association with intestinal diseases such as familial adenomatous polyposis (FAP) [2] and Crohn's disease. [3] Its etiology is controversial. Association with previous traumatic events, hormonal imbalance, and a genetic predisposition have been reported. MF may sometimes be difficult to distinguish from gastrointestinal stromal tumors (GIST) and sclerosing mesenteritis. [4] Immunohistochemical analysis may serve as an adjunct in its diagnosis. [5]

Gardner's syndrome is an autosomal dominant disease with a high degree of penetrance characterized by a triad of colonic polyposis, multiple osteomas, and mesenchymal tumors of the skin and soft tissues. [6],[7],[8] Common locations of desmoid tumors are incision sites, the abdominal cavity, or the retroperitoneum. [6],[9] The gastrointestinal manifestations of Gardner's syndrome include colonic adenomatous polyps (tubular, villous, tubulovillous), gastric and small intestinal adenomatous polyps (12% of patients), and periampullary carcinomas (2% of patients). [10],[11] Osteomas appear in about half of Gardner's syndrome patients and manifest earlier than polyposis. They may be endosteal or exosteal and demonstrate sclerosis and deformity. The vast majority of osteomas are located on the skull. [6] The commonest skin manifestations of Gardner's syndrome are epidermoid or sebaceous cysts (66%) and are found on the face, scalp, and extremities.

Mesenteric fibromas may be considered low-grade fibrosarcomas. They are characterized by low invasive potential, progressive growth, and tendency to relapse, although they have no metastatic capacity. The frequent association of MF with genetically determined disease such as Gardner's syndrome (homozygous inactivation of the APC gene) suggests that genetic predisposition plays an important role in the pathogenesis of MF.

Desmoid tumors vary in size from a few centimeters in width to tumors encompassing nearly the entire abdomen. Most patients are asymptomatic, but when present, symptoms relate to local pressure or obstruction of abdominal organs or vascular supply. Desmoid tumors appear in 3.5-5.7% of patients of Gardner's syndrome. In our case, the desmoid tumor was the sole manifestation of the disease.

Other manifestations of Gardner's syndrome are papillary thyroid cancer (often multicentric), benign intracranial neoplasms such as meningiomas and epidermoid cysts, hepatoma, hepatoblastoma, fibromas, leiomyomas, lipomas, biliary and adrenal neoplasms, osteosarcoma, chondrosarcoma, and dental disorders (congenitally missing teeth, hypercementosis, odontomas, dentigerous cysts, impacted teeth, supernumerary teeth, fused or unusually long roots an multiple caries) [6] in 70% of patients. In about 90% of the population, hypertrophy of the retinal pigmented layer occurs.

The treatment of choice for MF is surgical removal with negative resection margins. If the disease site does not allow radical surgical treatment, there are various therapeutic strategies alternative to surgery: radiotherapy, nonsteroidal anti-inflammatory drugs such as sulindac and indomethacin, interferon a-2b, triphenylethylenes, selective estrogen receptor modulators, chemotherapy with doxorubicin, dacarbazine, and carboplatin or with methotrexate and vinblastine. Combination treatment using toremifene and interferon a-2b proved to be effective in two cases of MF.

Nonsurgical treatment has an unpredictable outcome and might be considered in patients with unresectable lesions. Radical resection with clear margins remains the principal determinant of outcome but the risk of local recurrence remains.

 
 » References Top

1.Heiskanen I, Jarvinen HJ. Occurrence of desmoid tumors in familial adenomatous polyposis and results of treatment. Int J Colorectal Dis 1996;11:157-62.  Back to cited text no. 1
    
2.Knudsen AL, Bulow S. Desmoid tumors in familial adenomatous polyposis. A review of literature. Cancer 2001;1:111-9.  Back to cited text no. 2
    
3.Slater G, Greenstein AJ. Mesenteric fibromatosis in Crohn's disease. J Clin Gastroenterol 1996;22:147-9.  Back to cited text no. 3
[PUBMED]  [FULLTEXT]  
4.Rodriguez JA, Guarda LA, Rosai J. Mesenteric fibromatosis with involvement of the gastrointestinal tract. A GIST simulator: A study of 25 cases. Am J Clin Pathol 2004;121:93-8.  Back to cited text no. 4
    
5.Montogeoery E, Torbenson MS, Kaushal M. Beta-catenin immunohistochemistry separates mesenteric fibromatosis from gastrointestinal stromal tumor and sclerosing mesenteritis. Am J Surg Pathol 2002;26:1296-301.  Back to cited text no. 5
    
6.Leblanc R. Familial adenomatous polypoisis and benign intracranial tumors: A new variant of Gardner's syndrome. Can J Neurol Sci 2000;27:341-6.  Back to cited text no. 6
    
7.Cruz-Correa M, Giardiello FM. Diagnosis and management of hereditary colon cancer. Gastroenterol Clin North Am 2002;31:537-49.  Back to cited text no. 7
[PUBMED]    
8.Clark SK, Phillips RK. Desmoids in familial adenomatous polyposis. Br J Surg 1996;83:1494-504.  Back to cited text no. 8
[PUBMED]    
9.Batori M, Chatelou E, Mariotta G, Sportelli G, Straniero A, Casella G, et al. Giant mesenteric fibromatosis. Eur Rev Med Pharmacol Sci 2005;9:223-5.  Back to cited text no. 9
[PUBMED]    
10.Newman CA, Reuther WL 3rd, Wakabayashi MN, Payette MM, Plavsic BM. Gastrointestinal case of the day. Gardner syndrome. Radiographics 1999;19:546-8.  Back to cited text no. 10
[PUBMED]  [FULLTEXT]  
11.Debinski HS, Love S, Spigelman AD, Phillips RK. Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology 1996;110:1028-30.  Back to cited text no. 11
[PUBMED]  [FULLTEXT]  


    Figures

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

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