Desmoid Tumor of Anterior Chest Wall: a Case Report

We present here a 35-year-old male patient with chest wall aggressive fibromatosis, who was treated with surgery followed by adjuvant radiation therapy. The patient is doing well following 12 months of follow-up without local recurrence. Radical surgical resection is the main treatment for desmoid tumors (DTs). The adjuvant treatment, either chemotherapy or radiotherapy, can be considered when radical resection could not be achieved and if reoperation for a recurrence is not applicable. Close follow-up is essential in such patients.

Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of desmoid tumours (DT) to investigate the molecular profiles in combination with the clinicopathological characteristics. CTNNB1 mutations with specific hotspots were identified in 56 cases (87.5%). A copy number loss in chromosome 6 (chr6) was identified in 14 cases (21.9%). Clustering based on the mRNA expression profiles was predictive of the patients’ prognoses. The risk score generated by the expression of a three-gene set (IFI6, LGMN, and CKLF) was a strong prognostic marker for recurrence-free survival (RFS) in our cohort. In conclusion, CTNNB1 mutations and a chr6 copy number loss are likely the causative mutations underlying the tumorigenesis of DT while the gene expression profiles may help to differentiate patients who would be good candidates for wait-and-see management and those who might benefit from additional systemic or radiation therapies.

A 42-year-old man visited our clinic for routine follow-up 1 year after left upper lobe lingular segmentectomy for lung adenocarcinoma. Chest computed tomography showed a pleural mass adherent to the thoracotomy site. Positron emission tomography revealed mildly increased metabolism with a maximal standardized uptake value of 2.7 within the tumor, suggesting local recurrence of the previous neoplasm. Exploratory thoracotomy and en bloc resection of the tumor revealed spindle cells in a massive collagenous tissue consistent with a desmoid tumor. Next-generation sequencing (NGS) was performed to confirm the diagnosis and to identify any genetic alterations that might be relevant to the prognosis of this tumor. The tumor harbored an S45F mutation in CTNNB1, which has been correlated with a high recurrence rate. Therefore, we performed adjuvant radiotherapy on the resection bed at a dose of 56 Gy. The patient experienced no postoperative or radiotherapy-related complications. Periodic follow-up examinations using computed tomography were performed every 3 months, and no evidence of recurrence of either tumor was observed during the 38 months after the last surgery. To the best of our knowledge, this is the first case reporting the clinical application of NGS and aggressive treatment based on the genotyping results for the management of a desmoid tumor.

Desmoid tumours which present to CoRSU rehabilitation hospital in Kampala are frequently managed surgically. This study compares the demographics and management of patients presenting to CoRSU hospital with that of other centres against best practice. The CoRSU database was searched for any patients diagnosed with “desmoid tumour” or “fibromatosis”. Fourteen patients with suitable histology were found. There were six males in the cohort and eight females. The median age at diagnosis was 12 (range 5-35). The most common tumour sites were the extremities, limb girdles and chest wall. Four patients had at least one recurrence, and of these all of them had a primary tumour in the extremities or limb girdles. The patient demographics at CoRSU are similar to those demonstrated in the literature. The study supported the idea that younger patients are more likely to develop extra-abdominal tumours, and older patients may present with abdominal tumours. Most patients were managed surgically, in line with current recommendations.

A 15-year-old boy presented with a painless, progressively growing swelling of his right arm. The swelling was firm, non-tender and with restricted mobility. MRI imaging revealed a well-defined, heterogenous, lobulated swelling extending beneath arm and shoulder muscles. Wide local excision of the swelling was done under general anesthesia and pathologic examination revealed aggressive fibromatosis of the arm. Adjuvant radiotherapy was provided to the patient to reduce the risk of local recurrence of the tumor. Aggressive fibromatosis of the upper limb presents as a painless, progressively growing swelling. Assessment with MRI is imperative for making a preliminary diagnosis. Wide local excision with safety margin with adjuvant radiotherapy is the main line of treatment to minimize the incidence of recurrence and preserve the limb.

The goal of this meta-analysis was to evaluate the association between CTNNB1 mutation and recurrence in surgically treated desmoid tumor (DT) patients. PubMed, Embase and Cochrane library were systematically searched. The outcome of interest was the risk of recurrence. The number of patients with CTNNB1 mutation and the number of recurrences they developed were recorded and compared. The quality of these studies was assessed using the Newcastle-Ottawa Quality Assessment Scale. Odds ratios and variances were calculated and pooled. A total of eight studies were identified including 637 patients. S45F-mutated DTs were more likely to recur compared with wild type, T41A and other mutated DTs. However, there were no statistically significant differences in the rate of recurrence between wild type and T41A mutation or other mutation. Among CTNNB1 mutations, the mutation S45F is a high-risk factor for recurrence of DT and may be a predictive marker for the recurrence of sporadic DT.