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

ABSTRACT: Desmoid tumor (DT) is a fibroblastic proliferation arising in soft tissue characterized by localized infiltrative growth with an inability to metastasize but with a tendency to recurrence. Nuchal-type fibromas are benign soft tissue lesions that are usually developed in the posterior neck. The development of these neoplasms can be associated with a hereditary cancer predisposition syndrome, mainly familial adenomatous polyposis (FAP) syndrome caused by APC germline mutations. Gardner syndrome is a variant of FAP characterized by the presence of extracolonic manifestations including soft tissue tumors as DTs and nuchal-type fibromas. However, the development of these tumors could be associated with germline alterations in other genes related to colorectal cancer development. The obje

SUBMITTER: Alba-Pavon P 

PROVIDER: S-EPMC10560355 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature