Desmoid tumor in patients with familial adenomatous polyposis

Abstract

-Context -Desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. The development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. Objectives -To evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to present patient outcome. Methods -Between 1984 and 2008, 68 patients underwent colectomy for familial adenomatous polyposis at the School of Medical Sciences Teaching Hospital, University of Campinas, SP, Brazil. Desmoid tumors were found in nine (13.2%) of these patients, who were studied retrospectively by consulting their medical charts with respect to clinical and surgical data. Results -Of nine patients, seven (77.8%) were submitted to laparotomy for tumor resection. Median age at the time of surgery was 33.9 years (range 22-51 years). Desmoid tumors were found in the abdominal wall in 3/9 cases (33.3%) and in an intra-abdominal site in the remaining six cases (66.7%). Median time elapsed between ileal pouch-anal anastomosis and diagnosis of desmoid tumor was 37.5 months (range 14-60 months), while the median time between colectomy with ileorectal anastomosis and diagnosis was 63.7 months (range 25-116 months). In 6/9 (66.7%) patients with desmoid tumors, the disease was either under control or there was no evidence of tumor recurrence at a follow-up visit made a mean of 63.1 months later (range 12-240 months).Conclusions -Desmoid tumors were found in 13.2% of cases of familial adenomatous polyposis following colectomy; therefore, familial adenomatous polyposis patients should be followed-up and surveillance should include abdominal examination to detect signs and symptoms. Treatment options include surgery and clinical management with antiestrogens, antiinflammatory drugs or chemotherapy.

Familial Adenomatous Polyposis and Desmoid Tumor Treated with Multivisceral Transplantation and Kidney Autotransplantation: Case Report and Literature Review

“…The etiology of DT is still unclear. Approximately 2% of DT are associated with FAP caused by mutation in the FAP gene that is located in chromosome 5q21, or Gardner's syndrome [11,12]. Known risk factors associated with DT are as follows: prior abdominal surgery, typically prophylactic colectomy, localization of the FAP germline mutation, female sex, and a family history of DT [13].…”

A case report of desmoid tumour—a forgotten aspect of FAP?

“…Desmoid tumours are rare fibromatous lesions that are non-metastasising but locally aggressive and have a high rate of recurrence even after complete resection [1], [2] These slow-growing tumours commonly arise in the abdominal wall or in the intra-abdominal region.…”

“…2% of cases of desmoid tumours are associated with FAP [1]. Whereas the incidence of desmoid tumours in the general population is 2–4 per million per year, the incidence in FAP is 10–20%, meaning that a patient with FAP is at an 852-fold increased risk of developing a desmoid tumours [2], [3], [6].…”

“…Patients with FAP should be closely followed up regularly with abdominal examinations in order to look for any signs of tumours and obstruction [1]. CT and MRI are used to identify these tumours (and monitoring) [2] but a biopsy is necessary to confirm the diagnosis [1].…”

“…CT and MRI are used to identify these tumours (and monitoring) [2] but a biopsy is necessary to confirm the diagnosis [1]. They are initially kept under observation while their size remains sTable Surgical excision with a safety margin is the first-line treatment for enlarging desmoid tumours.…”