Management of extra-abdominal fibromatosis in a musculoskeletal tumour centre in Hong Kong [Full Article]

The purpose of this study was to analyse the management approach in our musculoskeletal tumour centre. Thirty-four patients with extra-abdominal fibromatosis referred to our centre between 2000 to 2018 were included. Patients’ demographics, tumour location and size, year of diagnosis, treatment modalities, surgical margins, recurrence, and subsequent management were analysed. Patients mostly presented in the second and third decade, with female predominance. Twenty-seven patients underwent excision. Other management options included ‘watchful waiting’, pharmacological treatment and radiotherapy. Recurrence rate was 51.9%. There was no statistically significant relationship between marginal status and recurrence. We report our experiences on management of fibromatosis, with strategy shifted from early excision to a conservative approach over the years. Surgical excision is still indicated in some situations. Tumour recurrence is not rare but second excision is not always necessary

We report a case of a 31-year-old man presenting with abdominal mass associated with dyspepsia and early satiety. CT scan demonstrated a large heterogeneous mass adherent to or arising from the jejunum. The patient underwent a successful elective exploratory laparotomy with resection of the tumour arising from the wall of the ileum with a 10 cm margin. The patient had an uneventful recovery and no recurrence at 6-month follow-up. Pathology report and immunohistochemistry analysis revealed the mass to be a primary desmoid tumour of the small bowel, as the tumour was negative for c-kit and Discovered on GIST 1 (DOG-1) and positive for beta-catenin and smooth muscle actin.

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.

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.