Familial adenomatous polyposis associated desmoid tumors: Presentation of two cases with literature evaluation

Abstract

Familial adenomatous polyposis (FAP) coli is an autosomal dominant disease where hundreds to thousands of polyposis occur in the colon and rectum. The mutations in APC gene causes the disease. Colectomy or proctocolectomy was used as a routine surgery in a prophylactic manner to prevent colorectal cancer in FAP patients. In FAP patients some extraintestinal problems are observed: osteoma, brain tumors, hepatoblastoma, papillary carcinoma and desmoid tumor. In FAP patients desmoid tumors are mostly seen in the abdomen or abdominal wall (80-90%) but rarely may be seen in the extremities as well. After a prophylactic colectomy, desmoids become a serious problem with high mortality and morbidity. There are surgical and medical treatment modalities for desmoids. Tamoxifen-NSAIDs-cytotoxic agents are medical options for the first line treatment in abdominal desmoids whereas surgical excision is recommended in complicated cases. In abdominal wall desmoids, surgical excision is the best way. In this study we discuss our two FAP patients in whom desmoid tumor in the abdomen and abdominal wall developed. In the light of the literature and as we have observed in our patients, in a FAP patient proctocolectomy ileal J pouch anal anastomosis should be preferred as a surgical option. In cases of intraabdominal desmoids, tamoxifen-NSAIDs is the first line treatment. Partial and sometimes complete response to medical treatment may be seen.