Comparison of sporadic and FAP-associated desmoid-type fibromatoses

J Surg Oncol. 2017 Nov;116(6):716-721. doi: 10.1002/jso.24699. Epub 2017 Jun 1.

Abstract

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.

Keywords: aggressive fibromatosis; desmoid tumor; desmoid-type fibromatosis; familial adenomatous polyposis (FAP).

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Age Factors
  • Disease-Free Survival
  • Endopeptidases
  • Female
  • Fibromatosis, Aggressive / metabolism*
  • Fibromatosis, Aggressive / pathology
  • Fibromatosis, Aggressive / therapy*
  • Gelatinases / metabolism*
  • Humans
  • Male
  • Membrane Proteins / metabolism*
  • Retrospective Studies
  • Serine Endopeptidases / metabolism*

Substances

  • Membrane Proteins
  • Endopeptidases
  • Serine Endopeptidases
  • fibroblast activation protein alpha
  • Gelatinases