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

: Desmoid tumor (DT) is a fibroblastic proliferation arising in soft tissue characterized by localized infiltrative growth with an inability to metastasize but tendency recurrence. Nuchal-type fibromas are benign lesions that usually developed the posterior neck. The development of these neoplasms can be associated hereditary cancer predisposition syndrome, mainly familial adenomatous polyposis (FAP) syndrome caused APC germline mutations. Gardner variant FAP presence extracolonic manifestations including tumors as DTs and nuchal-type fibromas. However, could alterations other genes related colorectal development. objective this study was analyze variants APC, MUTYH, POLD1 POLE five pediatric patients diagnosed or We identified two pathogenic gene different fibroma uncertain significance fibroma. Two had family history cancer, however, only one them showed variant. analysis genetic counseling essential for their relatives.