A Clinical Case Report And Review Of The Literature For Desmoid Tumours Associated With Familial Adenomatous Polyposis

Familial adenomatous polyposis(FAP) is a rare autosomal dominant syndrome characterized by the development of hundreds of colorectal adenomas. Desmoid tumours(DT) exhibit fibroblastic monoclonal proliferations and arise from soft tissues with infiltrative and recurrent character. There are about 10-25% of familial adenomatous polyposis patients developing desmoid tumours. To summarize clinical and pathological characteristic of FAP related desmoid tumours, and investigate methods on diagnosis and therapy, we present two cases of FAP complicated with mesenteric desmoid tumours for experience in diagnosis and therapy in combination with reviewing literature. One was a 22- year-old male pateint admitted with abdominal mass about two years after proctocoletomy, and received biopsy and confirmed that, then received resection for the intra-abdominal desmoid tumours and part of small intestine, desmoid tumours recurrence were found seven months later and died from intestinal obstruction after 1 year. Another was a 32-year-old female pateint admitted with large abdominal cystic mass, following hydronephrosis and small bowel obstruction about four years after proctocoletomy. The obstruction did not relieve after percutaneous drainage, then resected part of intra-abdominal cystic mass and confirmed by pathological examination, the hydronephrosis and intestinal obstruction disappeared after surgery, no recurrence were found by following up. The recent literatures suggest that the prevalence of desmoid tumours arise with increasing prophylactic proctocolectomy for FAP patients. APC gene and some modifier genes mutation, surgical trauma, and estrogen levels are considered to be correlated with the development and growth of desmoid tumours. With FAP patients, more than 50% of the tumours are located at intra-abdominal, and most of these are at mesentery. Tumors always grow slowly as an intra-abdominal mass. The symptoms are abdominal pain, vomiting, or abdominal distention. Mesenteric desmoid tumours can cause small bowel obstruction or ischaemia, hydronephrosis or form fistulas, which is one of the three major causes of death amongst FAP patients. Diagnosis is obtained through FAP and proctocolectomy history, the extension is determined by image examinations, and confirmed by biopsy. Surgical operation can resect tumors intactly and relieve hydronephrosis and intestinal obstruction, but it is prone to recur. NSAIDs in combination with tamoxifen can suppress the growth of tumors, and it also can preclude and treat recurrence of desmoid tumours.