Indian Journal of Cancer Medknow Publications on behalf of Indian Cancer Society ISSN: 0019-509X EISSN: 1998-4774 Vol. 48, Num. 1, 2011, pp. 140-142

Indian Journal of Cancer, Vol. 48, No. 1, January-March, 2011, pp. 140-142

Letter to Editor

Giant mesenteric fibromatosis in Gardner's syndrome

BA Vaswani, M Shah, PM Shah, BJ Parikh, AS Anand, GL Sharma

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

Correspondence Address:
B A Vaswani
Department of Medical Oncology, The Gujarat Cancer and Research Institute, Ahmedabad, Gujarat
India
bharatvaswanidm@yahoo.co.in

Code Number: cn11038

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].

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.

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

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