Risk Factors of Local Recurrence After Surgery in Extra-Abdominal Desmoid-Type Fibromatosis: A Multicenter Study in Japan

This study was undertaken to clarify the risk factors, including the mutation status of CTNNB1, for the local recurrence after surgery of the rare disease, desmoid-type fibromatosis. It was designed as a multi-institutional joint research project with seven major centers in Japan participating. Of 196 cases with specimens and medical records collected from the 7 institutions, 88 surgically treated ones were analyzed regarding clinicopathological prognostic factors including CTNNB1 mutation status. Excluding R2 cases (n=3), 5-year local recurrence free survival (LRFS) was 52.9%. No case had received pre- or post-operative radiotherapy. Univariate analysis revealed that extremity location (P<0.001) and larger size (?8cm, P=0.036) were significant adverse risk factors for LRFS. Multivariate analysis demonstrated that extremity location (P<0.001) was a significantly adverse factor in addition to recurrent tumor (P=0.041), S45F mutation (P=0.028), and R1 surgical margin (P=0.039). Pre-operative drug treatment including NSAIDs did not reduce the incidence of local recurrence (P=0.199). This is the first study to analyze the factors correlating with outcomes of surgical treatment including CTNNB1 mutation status in a relatively large number of cases from an Asian country. Tumor location was found to be the most influential prognostic factor for local recurrence, similar to the results from Western countries. The development of more sensitive method(s) for determination of CTNNB1 mutation is a priority for future study.

In this study, we aimed to present our surgical approach, tumor characteristics, clinical presentation and long-term follow-up results in cases of primary mesenteric fibromatosis. The data collected from 11 patients who underwent surgery due to primary mesenteric fibromatosis in our clinic between 2010 and 2019 were analyzed retrospectively. Abdominal pain, abdominal distention, and two patients (18.2%) were operated on with a diagnosis of acute abdomen in the emergency setting due to mechanical bowel obstruction in one patient. There were 11 patients in our study. Six patients were female and 5 were male. The mean age was 44.2ñ15.8 years. Abdominal mass was detected in 5 patients (45.5%) who had complaints of mechanical bowel obstruction such as nausea and vomiting and gastrointestinal perforation in other patient. Mesenteric mass was detected in 3 patients (27.3%) with vague abdominal pain. One patient (9.1%) presented with abdominal pain and swelling of the right leg. After a mean follow-up period of 43.4ñ28.4 months, only 1 patient (9.1%) had recurrence and required reoperation approximately 80 months after the first operation. One patient (9.1%) died of anastomotic leakage and sepsis in the first 30 days postoperatively, and other patient (9.1%) died of other reasons 1 year later postoperatively. Although mesenteric fibromatosis is a benign tumor pathologically, the main principle in the treatment of this tumor which is clinically aggressive and has high recurrence rate is wide surgical resection. Mesenteric fibromatoses have a varied clinical presentation. Radiological imaging methods helps diagnosis and planning the surgical treatment. Immunohistochemical characteristics confirms the diagnosis and differentiates from other similar tumors.

Here we report a case of huge mesenteric fibromatosis who complained a paroxysmal epigastric pain, and CT scan showed a huge mass, pneumoperitoneum and ascites. An urgent laparotomy showed an intro-abdominal mass and perforation locating at the jejunum. Postoperative histology confirmed it to be mesenteric fibromatosis. With one-year follow-up, the patient had no recurrence. We wish to share our treating experience of this interesting case because it did not belong to a typical type but presenting with acute diffuse peritonitis, and total resection and R0 margin is a key to treat acute case.

Signaling pathways have a key role in driving the uncontrolled development of familial adenomatous polyposis (F.A.P.)- associated and sporadic desmoid tumors (DTs). The relationship between the Wnt/b-catenin signaling pathway and DTs has been extensively studied, but no reliable biomarkers able to detect their histological subtype have been identified for the accurate diagnosis. In this study we studied the differences in miRNA expression between sporadic (20 patients) and FAP-associated DTs (7 patients) using microarray confirmed by quantitative PCR (qPCR). The analysis showed 19 dysregulated miRNAs. Among them miR-133b levels were significantly lower in FAP-associated DT than in sporadic DT. Therefore, two mRNAs, associated to miR-133b and beta-catenin expression, the SIRT1 and ELAVL1 were analyzed. The qPCR analysis showed that SIRT1 mRNA levels were significantly up-regulated in FAP-associated DT than in sporadic DT, whereas no differences in ELAVL1 expression was observed between these two DT types. In addition, a negative correlation was observed between miR-133b and SIRT1 in FAP-associated DTs, but not in sporadic DTs. The miR-133b-SIRT1-beta-catenin axis may represent a novel mechanism underlying progression of FAP-associated DT.

We report a case of desmoid fibromatosis of the anterior chest wall. Deep fibromatosis or desmoid tumour is a low-grade, soft tissue lesion that is notable for its local infiltration and most commonly occurs in the abdomen. Deep fibromatosis of the chest wall is a rare condition. A 17 year old male presented with an anterior chest wall swelling since 2 months, not associated with pain, gradually increasing in size with features of extension into skeletal muscle on radiology. On Fine Needle Aspiration Cytology, it was diagnosed as a spindle cell tumour and a wide local excision of the tumour was done.

A 3-year-old male child presented with a complaint of swelling between the eyebrows for a 4-month duration. He was evaluated and posted for surgery with a provisional diagnosis of a dermoid cyst. Intraoperatively, the lesion was an ill-defined tissue that was firm and gray-white, occupying the deep subcutaneous plane. Complete excision was possible. The histopathological features were suggestive of the desmoid type of infantile fibromatosis. The postoperative period was uneventful. There was no evidence of recurrence at 3-year follow-up.