Comparison of sporadic and FAP‐associated desmoid‐type fibromatoses

摘要

Background and Objectives Desmoid‐type fibromatosis is a rare disease of which 7.5‐16% have been reported to be related to familial adenomatous polyposis (FAP). We sought to compare the characteristics and treatment of sporadic and FAP‐related desmoid‐type fibromatoses. Methods Altogether 220 patients were included in the study after receiving a diagnosis of desmoid‐type fibromatosis by the Pathology Department of Helsinki University Hospital, with adequate follow‐up. Patients were included from January 1, 1980 until April 30, 2015. Results FAP‐related tumors were found in 22 (10%) patients. FAP‐related desmoid‐type fibromatoses were larger, more commonly multiple, and more often intra‐abdominally situated. Surgery was the treatment of choice for 179 (90%) of the sporadic patients and for 18 (82%) of FAP‐related patients. Resections with non‐involved margins (R0) were more common in sporadic desmoid‐type fibromatoses (55% vs. 23%, P ?=?0.048). The risk of recurrence was 25% in sporadic‐ and 44% in the FAP‐related group. Three (14%) patients with FAP‐related desmoid‐type fibromatoses died from the disease. Conclusions The predictors for FAP occurrence among desmoid tumor patients are large tumor size, intra‐abdominal location, multiple tumors, and patient's young age. Desmoid‐type fibromatosis patients suffer a high recurrence rate, also among those experiencing sporadic tumors, but the risk of death due to the tumor is low. Conversely, desmoid disease represents a substantial cause of death among FAP patients.