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

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 F.A.P. 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.

Desmoid tumors are tumors of the fibrous tissue that are benign, which most commonly occur in the abdominal walls of females who are of childbearing age. The most common location for extra-abdominal desmoid tumors is the shoulder and the upper limb. They show no tendency for metastasis but are locally very aggressive. Here we report a rare case of extra-abdominal desmoid fibromatosis in the mandible of a child.

Hereby, we report a case of fibromatosis arising in the left popliteal fossa, proven by histopathology and immunohistochemistry. Local excision of the mass was performed. The patient was asymptomatic for 6 months, after which she complained of difficulty in walking. Clinical evaluation elicited recurrence in the surgical bed. In spite of the surgical excision with tumor-free margins, recurrence was seen within a span of 6 months.18F-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET/CT) was done to rule out multifocal disease and to define the extent of relapse. Although magnetic resonance imaging provides an excellent soft-tissue resolution to delineate the disease,18F-FDG PET/CT is an important and supplementary tool which aids in the management of fibromatosis.

This article discusses the management of a 2-year-old child with desmoid fibromatosis (DF) of the infratemporal fossa (ITF) along with literature review.

Mesenteric fibromatosis (MF) is a rare, locally aggressive tumor without distant metastasis, which has a high recurrence rate. Based on its location, it is classified as intra-abdominal, from abdominal wall, and extra-abdominal. The incidence of cystic-solid, retroperitoneal tumors is very low in comparison to other MF forms. Intra-abdominal MFs are asymptomatic in early stages, but their symptoms appear late in the tumor course. There is no specific imaging finding since radiological diagnosis is mostly impossible. Thus, diagnosis is made histopathologically. Nowadays, there is no consensus about its treatment although surgical resection is widely used. In the present study, a very rare case of cystic-solid retroperitoneal MF associated with separate synchronous skin tumors is reported.

Here we report a case of 65-year-old man who came to the surgery department with complaints of pain in abdomen and constipation for 5 days. He had no history of any trauma or surgery. The family history was not significant. On physical examination, a lump of 10 x 6 cm was palpated in lower abdomen. The lump was firm, non-tender with diffuse border. The lower border was not palpable. Relevant blood investigations were done and were in the normal range. X-ray findings showed features suggestive of subacute intestinal obstruction. MRI Findings Revealed a large mass arising from the anterior lower abdominal wall muscles. Surrounding organs appear normal. No enlarged lymph nodes were detected. No ascites. Features were suggestive of desmoid tumour.