Desmoid Tumors: Clinical Features and Treatment Options for Advanced Disease

Abstract

Desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Although histologically benign, desmoids are locally invasive and associated with a high local recurrence rate, but lack metastatic potential. 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 for disease recurrence.Many issues regarding the optimal treatment of patients with desmoids remain controversial; however, surgery is the therapeutic mainstay, except if mutilating and associated with considerable function loss. Postoperative radiotherapy reduces the local recurrence rate, in cases of involved surgical margins. Because of the heterogeneity of the biological behavior of desmoids, including long periods of stable disease or even spontaneous regression, treatment needs to be individualized to optimize local tumor control and preserve patients' quality of life. Therefore, the application of a multidisciplinary assessment with multimodality treatment forms the basis of care for these patients. Watchful waiting may be the most appropriate management in selected asymptomatic patients. Patients with desmoids located at the mesentery or in the head and neck region could present with life-threatening complications and often need more aggressive treatment. This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease. The Oncologist 2011;16:682-693

The Role of Radiotherapy in the Treatment of Primary or Recurrent Desmoid Tumors and Long-Term Results

“…Classically, surgical excision is the main treatment modality for locally invasive or recurrent desmoid tumors. On the other hand, while this tumor has deep infiltration and is nonencapsulated, resection with a negative surgical margin is generally impossible (7). Also, they spread along the fascial planes.…”

“…Desmoid tumors have a wide spectrum of heterogeneity in clinical attitude, but they usually have an infiltrative growth and locally aggressive behavioral pattern, and do not distantly metastasize (2,5,6). These tumors have been classified as intermediate grade sarcomas since they are locally invasive and local recurrence rates are very high after wide local resection (7,8).…”

“…It reduces the incidence of local recurrence for these patients and it may control unresectable disease (13,14). Concurrently, some authors have reported a wait and see policy for stable and asymptomatic lesions, while others have recommended chemotherapy or systemic therapy for unresectable lesions (2,7,15,16).…”

Sporadic Giant Mesenteric Fibromatosis

“…Various rates of partial and complete response have been reported ranging from 19 to 50 %. [5] In conclusion, mesenteric fibromatoses have a varied clinical presentation. Imaging aids diagnosis and helps planning a possible surgical treatment.…”

“…The management of mesenteric fibromatosis is challenging and various surgical and non surgical modalities are suggested as part of the treatment armamentarium. [5] Case Report A 28 year old gentleman presented with history of a slowly growing abdominal lump associated with vague abdominal pain of 10 months duration. He had no past history of colonic polyps or abdominal trauma or any other significant family history.…”