The Desmoid Tumor Research Foundation

February 2021

Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK

Author Information

Cojocaru E(1), Gennatas S(1), Thway K(1,2), Fisher C(2,3), Smrke A(1), Strauss D(1), Hayes A(1,2), Smith M(1,2), Jones RL(1,2), Benson C(1,2), McVeigh TP(4).

(1)Sarcoma Unit, The Royal Marsden NHS Foundation Trust, London, UK. (2)The Institute of Cancer Research, London, UK. (3)Dept of Musculoskeletal Pathology, Univ Hospitals Birmingham, Birmingham, UK. (4)Cancer Genetic Unit, The Royal Marsden NHS Foundation Trust, London, UK.

Publication

Fam Cancer

Summary

We conducted a retrospective descriptive analysis of patients with desmoid-type fibromatosis (DF) seen at the Royal Marsden NHS Foundation Trust Sarcoma Unit in London. We aimed to describe the methods of screening for FAP in patients with DF from a specialist unit. Patients diagnosed between 1992 and 2020 were selected from the prospectively maintained Sarcoma Unit database. 226 patients were identified and 67% (n = 152) were female. Median age at diagnosis was 37.5 (range 2-81) years. Tumour localisation was limbs/pelvis in 30.9% (N = 70), intra-abdominal 16.8% (N = 38), abdominal wall 23.5% (N = 53), thorax 18.6% (N = 42), head and neck 3.1% (N = 7) and vertebral/paravertebral 7.1% (N = 16). Colonoscopy was requested in 65 patients (28.8% of all cases) and was completed in forty-six (20.4%). Molecular testing of CTNNB1 testing was requested in 35 cases (15.5%). APC germline test was requested in 12 cases. Four patients in our cohort had an FAP-associated DF. CTNNB1 ± APC testing and colonoscopy are useful tools for the screening of patients with DF. CTNNB1 molecular testing should be performed in all cases of newly diagnosed DF. Negative CTNNB1 results, alongside clinical assessment, should prompt APC testing and/or colonoscopy.

View Abstract