A rare case of infantile desmoid-type fibromatosis on the thigh

Desmoid tumour of the colon is a very rare and aggressive type of intra-abdominal desmoid fibromatosis. Patients can present with a range of symptoms from a mild chronic abdominal pain to those of an acute abdomen. We present a rare case of abdominal fibromatosis that presented as a rapidly growing mass with free intraperitoneal gas. Intraoperatively however, we found a large tumour arising from the wall of the transverse colon and local necrosis. No bowel perforation was noted. The tumour was removed with a wide resection of transverse colon’s wall instead of colectomy. The histopathology reported benign fibromatosis and excluded malignancy.

Background: We aimed to investigate changes in volume and MRI T2-weighted intensity in desmoid-type fibromatosis (DF) receiving methotrexate plus vinca-alkaloids (MTX-VA) at Istituto Nazionale dei Tumori, Milan. Methods: All cases of sporadic DF treated with MTX-VA from 1999 to 2019 were reviewed. MRIs at baseline, 6 and 12 months of chemotherapy and at treatment withdrawal were retrospectively reviewed, contouring the tumor lesion and measuring diameters, volume, and mean T2-signal intensity (normalized to muscle) changes. These parameters were also evaluated according to clinical variables. Results: Thirty-two DF patients were identified. Best RECIST response was: 25% partial response, 69% stable disease, 6% progression. A ?65% tumor volume reduction was observed in 38%, <65% reduction in 53%, an increase in 9%. 22% had RECIST stable disease with a ?65% tumor volume reduction. T2-signal intensity decreased by ?50% in 47%, <50% in 41% and increased in 12%. In patients with symptomatic improvement while on therapy and in patients maintaining symptomatic improvement during follow-up, median T2-signal intensity showed a reduction along the time points (3.0, 1.9, 1.2, 1.1; 2.9, 2.0, 1.2, 1.2, respectively); in patients without symptomatic improvement and in those clinically progressing during follow-up, a reduction was not observed. High T2-signal intensity at baseline was observed in patients showing RECIST progression during follow-up. Conclusions: In this series, RECIST detected a lower proportion of responses as compared to volumetric and T2-signal changes. T2-signal reduction seemed to better reflect symptomatic improvement. High T2-signal intensity at baseline was related to a higher proportion of further progression.

Purpose: To retrospectively determine efficacy and safety of cryoablation in patients with desmoid tumors over a 10-year period at a single institution. Materials and methods: Between 25 February 2010 and 25 February 2020, 25 patients (12 – 80 years) with 26 lesions (mean pre-procedural tumor volume was 236.6 cm3) were treated over 44 cryoablation procedures. 11 patients were treated as first line therapy. 14 patients had previous medical therapy, radiotherapy and/or surgery. Subsequent clinical follow up, imaging outcomes and safety were analyzed for technical success, change in total lesion volume (TLV) and viable tumor volume (VTV), modified response evaluation criteria in solid tumors (mRECIST), progression free survival (PFS) for tumor progression and symptom recurrence, symptom improvement and procedure related complications. Symptomatic improvement was defined as documentation of relief of pain (partial or complete) and/or functional impairment. Results: All procedures were technically successful. At 7 to 12 months, median change in TLV and VTV were -6.7% (p = 0.809) and -43.7% (p = 0.01) respectively. By 10-12 months mRECIST, responses were complete response 0%, partial response 61.5% (8/13), stable disease 30.8% (4/13) and progressive disease 7.7% (1/13). Median PFS for tumor progression and symptom recurrence were not reached, with a median follow up of 15.3 months and 21.0 months respectively. Symptomatic relief (partial or complete) was achieved in 96.9% (32/33) of patients. There was 1 major complication (2.4%). Conclusion: In this retrospectively identified cohort, cryoablation is effective and safe for local control of extra-abdominal desmoid tumors in short term follow up.

A 49-year-old woman presented to surgery outpatient clinic with the awareness of a right lower abdomen asymptomatic lump for one week. Contrast-enhanced CT of the abdomen demonstrated a 10×11×15 cm heterogeneous lesion anterior to the ileocecal junction with the possibility of leiomyosarcoma. The patient was prepared for laparotomy and intraoperative there was a large tumour arising from the medial wall of cecum. Right haemicolectomy was performed, and histopathology came as a desmoid tumour of the cecum. The patient had an uneventful postoperative course and is well on 1-year follow-up.