Nirogacestat effective in desmoid tumours.

Mammary fibromatosis is a rare neoplastic proliferation of fibroblastic cells. Usually seen in abdominal and extra-abdominal sites, it is rarely seen in the breast. Patients with mammary fibromatosis usually present with a firm palpable mass with or without dimpling and skin retraction-often mimicking breast carcinoma. Here, we present a case of mammary fibromatosis in a 49-year-old woman who presented with a palpable lump in her right breast. Mammography tomosynthesis revealed architectural distortion which was seen on ultrasonography as a hypoechoic area. The patient underwent a wire-guided excision where the histology of this specimen showed irregular spindle cell proliferation with hemosiderin deposition, confirming mammary fibromatosis. Further re-excision of margins revealed no evidence of residual fibromatosis, and the patient underwent subsequent surveillance mammograms to ensure there was no recurrence.

BACKGROUND: Neuromuscular choristoma (NMC) is a rare peripheral nerve lesion characterized by abnormal presence of muscle within nerve. Associated desmoid-type fibromatosis (NMC-DTF) often develops. We report (18)F-fluorodeoxyglucose positron emission tomography (FDG PET) characteristics of NMC and NMC-DTF and propose that increased FDG activity within NMCs may be associated with subclinical NMC-DTF or NMC-DTF “precursor” tissue. METHODS: Our institutional database was searched for all NMC cases. Inclusion criteria were 1) confirmed diagnosis of NMC with or without biopsy, and 2) available PET and MRI studies. PET data included SUVmax and SUVmean of NMCs, contralateral limb normal skeletal muscle and unaffected nerves, and SUVmax of NMC-DTF if present. SUV values were compared using paired t-test. A p value of < 0.05 was considered statistically significant. RESULTS: Our cohort consisted of 9 patients with NMC, 8 cases involving sciatic nerve and 1 of brachial plexus. On PET imaging, all NMC-affected nerve segments showed significantly higher FDG uptake (SUVmax/mean) compared to both contralateral normal nerve and normal skeletal muscle (all P < 0.05). Similar to sporadic DTF, NMC-DTF was highly FDG-avid (average SUVmax of 4.2). SUVmax in NMC with or without concurrent NMC-DTF did not differ (p = 0.76). Within NMC-affected nerve segment, FDG activity was relatively higher in areas with low T1/T2 MR signal. CONCLUSION: All NMCs were more FDG avid compared to both normal skeletal muscle and contralateral unaffected nerve, arguing against the presence of heterotopic muscle in NMC as the source of FDG avidity. FDG avidity within NMC may reflect subclinical NMC-DTF or a precursor lesion, as NMC-DTF are highly FDG-avid, and the highest regions of FDG avidity in NMC occurred in regions with MR characteristics associated with NMC-DTF (i.e., lower T1/T2 signal). We believe that the integration of FDG PET with serial MR imaging in patient follow up will clarify its utility in both detection and surveillance of NMC-DTF.

BACKGROUND: Desmoid tumors occur throughout the body, presenting as aggressive, locally invasive lesions that can impede quality of life. Many controversies remain regarding the optimal surgical treatment of desmoid. This article presents a systematic review and meta-analysis on surgical management, focusing on risk of recurrence and the utility of reconstruction within this unique patient population. METHODS: A systematic review was conducted to search for articles. The clinical course of patients diagnosed with desmoid tumors and treated by our institution’s multidisciplinary team was retrospectively reviewed over a 13-year period. Meta-analysis study findings were compared with our cohort. RESULTS: From the systematic review, 10 studies with level of evidence III were found, which resulted in 981 patients. Twenty patients from our institution met the inclusion criteria for our study. In both our study cohort and the pooled results, recurrence was significantly higher in patients with positive microscopic margin after resection. In our study cohort, patients with recurrence had higher rates of positive margins compared with those without recurrence (83.3% vs 7.1%, P = 0.004), whereas the pooled study showed a difference of margin positivity of 50% vs 40% ( P = 0.01). No patients who underwent reconstruction in our study cohort had a recurrence during the study period. CONCLUSION: In both our cohort and pooled results, recurrence was significantly higher in patients with positive margins after initial resection. Reconstruction was not found to be a risk factor for recurrence. Reconstruction following desmoid tumor resection should be considered a viable option if a large and aggressive resection is required to obtain negative margins.

BACKGROUND: Desmoid tumours (aggressive fibromatosis) are rare, locally invasive, benign tumours. The following case represented a diagnostic challenge, because of the uncommon nature of the lesion. CASE REPORT: A 26-year-old woman, who had previously undergone middle-ear surgery for cholesteatoma, presented with a painful swelling involving the post-auricular area and the conchal bowl. Initially, it was believed to be an infective process related to the surgery or an unusual cholesteatoma recurrence. Following investigations, which involved imaging and histology, the swelling was diagnosed as a desmoid tumour, and the patient received chemotherapy. CONCLUSION: Two incidences of paediatric desmoid tumours affecting the ear have been described in the literature, but there is no previous report of a desmoid tumour related to ear surgery. Desmoid tumours have, however, been reported following trauma, including surgery.

A 39-year-old woman presented to the Emergency Department with dysuria and persistent abdominal pain for several weeks. The pain increased with palpation. Physical examination was otherwise normal. Computerized tomography (CT) scan revealed a round structure of unknown origin against the caecum and terminal ilium suspect for a GIST tumor and a fluid-filled right uterine tube suggestive of pyosalpinx. The following day a laparoscopic surgery with removal of the pyosalpinx and complete right hemi-colon including the suspected lesion was performed and biopsies of the surrounding peritoneum, meso and ileum were taken. Immunohistochemical tests (CD117/DOG1) and molecular analysis (KIT/PDGFRA) ruled out GIST. SMA and desmin were also negative. β-catenin along with next generation sequencing which revealed a likely pathogenic mutation in exon 3 of the CTNNB1 gene, suggested a diagnosis of desmoid-type fibromatosis (DF). Biopsies of the lymph nodes were negative.