Desmoid-type fibromatosis of the chest wall: a case report (FULL ARTICLE)

Herein, we present a rare case of chest wall desmoid-type fibromatosis (DF) in a 43-year-old female, which was discovered accidentally due to a thoracic wall mass that extended outward from the sternum. Computed tomography scans revealed a subcutaneous soft tissue mass anterior to the sternum, which was considered to be a mesenchymal tumor or an inflammatory lesion. The patient underwent surgical excision of the mass. The mass was completely removed and all margins were negative. According to the pathological results, the patient was finally diagnosed as DF. Postoperative radiotherapy was suggested subsequently, especially considering the locally aggressive and infiltrative nature of the tumor. However, this was rejected by the patient, and biannual re-examination was recommended instead. Despite the absence of postoperative radiotherapy, there was no evidence of local recurrence 2 years later.

The majority of desmoid-type fibromatosis (DTF) tumors harbor a beta-catenin mutation, affecting specific codons in CTNNB1 exon 3. S45F tumors are reported to have a higher chance of recurrence after surgery and more resistance to systemic treatments compared to wild-type (WT) and T41A tumors. The aim of this pilot study was to examine the genome-wide DNA methylation profiles of S45F and T41A mutated DTF, to explain the observed differences in clinical behavior between these DTF subtypes. This study demonstrated that S45F and T41A DTF tumors did not exhibit gross differences in DNA methylation patterns. This implies that distinct DNA methylation profiles are not the sole determinant for the divergent clinical behavior of these different DTF mutant subtypes.

We present the multidisciplinary treatment of 20 patients with resectable desmoid tumors, reconstruction method, and experience in managing recurrences. After institutional board review approval, the clinical course of 20 patients diagnosed with desmoid tumors and treated by the University of Texas Southwestern multidisciplinary team were retrospectively reviewed over an 8-year period to analyze patient characteristics and surgical outcomes. Patient, tumor, treatment, and outcome data were compared between patients who underwent surgical resection with formal reconstruction and patients who underwent resection with primary closure. Twenty patients were included in our study. Of those 11 (55%) underwent reconstruction, whereas 9 (45%) underwent primary closure. Primary closure patients were more likely to have positive marginal status post resection (55.6% versus 9.09%; P = 0.050) and higher rate of recurrence (66.6% versus 0%; P = 0.0012) than patients who underwent reconstruction. No recurrences occurred in the reconstructive group; the reconstructive group had significantly higher rates of desmoids located in the abdominal wall than those who underwent primary closure (72.7% versus 11.1%; P = 0.009). Reconstructive surgery was not found to be a risk factor for recurrence. In fact, primary closure was associated with higher reoccurrence and positive margins. This might suggest that during resection, surgeons are focusing more on primary wound closure versus insuring negative marginal status. Collaboration between reconstructive and oncologic surgeons is necessary in the management and potential treatment of desmoid tumors.

Herein, we report a unique case of an 11-year-old boy who presented with a rapidly growing soft-tissue mass after biopsy of a stable fat-rich lesion present in the calf muscles since infancy, with Magnetic resonance imaging findings suggesting an intramuscular adipocytic tumor. The resection showed gardner fibroma (GF) and desmoid fibromatosis (DF). DF arising from a preexisting GF (the so-called “GF-DF sequence”) is a well-documented phenomenon. Although immunohistochemistry was negative for nuclear beta-catenin expression, a CTTNB1 S45F mutation, which has been associated with aggressive behavior in DF, was identified in both components using a next-generation sequencing-based molecular assay. This is the first time a mutation in CTNNB1 has been identified in GF and the GF-DF sequence, thus expanding our knowledge of the molecular pathogenesis of the GF-DF sequence and highlighting the role of molecular testing in pediatric soft-tissue tumors.

More than 5 years ago, The Desmoid Tumor Working Group started a consensus initiative in Europe with the aim of harmonizing the strategy among clinicians and setting up treatment recommendations for patients with desmoid tumors (DTs). This review summarizes the latest joint, global, evidence-based guideline approach to DT management. Moreover, a number of gray areas in the treatment recommendations are discussed, and possible future perspectives on the treatment armamentarium for patients with DTs are presented.

The aim of this study was to evaluate the efficacy and safety of treatment of desmoid tumours (DT) with single agent oral vinorelbine. A retrospective review of patients treated with vinorelbine 90mg orally on Days 1, 8 and 15 of a 28-day cycle from January 2004-July 2019 was performed. Response was assessed using Response Evaluation Criteria in Solid Tumours version 1.1. 29 patients were included. Response rate was 20.7% (6/29) and clinical benefit rate (response by RECIST 1.1 and/or clinical symptom improvement) was 65.5% (19/29). No patient experienced grade 3 or above toxicity. Common toxicities were grade 1-2 nausea (14/26, 48.3%), fatigue (9/26, 31.0%) and diarrhea (4/26, 13.8%). Single agent oral vinorelbine is an effective, safe and well tolerated treatment for DT.