Clinicopathological and molecular characteristics of abdominal desmoid tumors in the Chinese population: A single‑center report of 15�cases

Abstract

Desmoid tumors (DTs), derived from the abdomen, are a type of rare and aggressive borderline tumor exhibiting high recurrence and malignant potential. The aim of the present study was to investigate the clinicopathological and molecular characteristics of abdominal DT in a Chinese population and to provide clues for selecting the optimal treatment strategy for different types of abdominal DT. The clinicopathological data of 15 consecutive patients with DT was collected. Matched fresh-frozen tumor tissues and peripheral blood samples were used to detect mutations of adenomatous polyposis coli gene (APC), β-catenin (CTNNB1) and MutY DNA glycosylase (MUTYH) using Sanger sequencing. Pearson's test was conducted to analyze the differences between sporadic DT and familial adenomatous polyposis (FAP) associated with DT. Time to progress (TTP) and overall survival curves were estimated using the Kaplan-Meier method and compared using the log-rank test. A review of the patient clinicopathological characteristics revealed that FAP-associated DT exhibited a higher rate of abdominal surgery history (P=0.011), with no significant differences in any other characteristics. Sequencing revealed that mutations in the APC, CTNNB1 and MUTYH genes were common in DT, and only one patient harbored no mutations in these genes. Survival analyses revealed that patients with FAP exhibited shorter TTP (P=0.030). Log-rank test demonstrated a tendency towards shorter TTP in the cases where an R2 resection was performed (P=0.072) and a tendency towards poor prognosis in the cases of DT associated with FAP (P=0.087). In conclusion, Abdominal DTs were prone to occur in patients with FAP with a history of abdominal surgery. Mutations in the APC, CTNNB1 and MUTYH genes were detected in patients with DTs. To the best of our knowledge, this is the first study of abdominal DT occurrence in patients with MUTYH-associated FAP. The prognosis of DT associated with FAP may be worse compared with that of sporadic DT.

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

“…Two patients in our cohort had pilomatrixomas, one had a VUS in POLD1 gene and the other one had an APC pathogenic variant in the germline. In addition, some soft tissue neoplasms have been described in adult patients with MUTYH pathogenic variants in the germline ( 36 , 37 ).…”

The Progress of Colorectal Polyposis Syndrome in Chinese Population

“…2 18 Wang et al analyzed 15 DT patients and proposed that FAP patients with a history of abdominal surgery were more likely to develop abdominal DT and had a worse prognosis. 39 Ge et al analyzed the genotypes of FAP-associated DT and concluded that all FAP patients, except those with APC gene variants in the 5′ to 495 range, should consider the risk of postoperative DT. Among them, patients with 3′ 1062 and 3′ 1399 codon variants had a significantly higher risk of DT.…”