Identification of germline mutations in DICER1 through routine somatic NGS analysis in various neoplasms

Abstract

DICER1 syndrome is a genetic disorder that predisposes individuals to developing a wide variety of neoplasms with different histopathological characteristics across a broad age range. This study presents three clinical cases: a newborn with a chondromesenchymal hamartoma, an adolescent with embryonal rhabdomyosarcoma of the cervix, and a woman with pineoblastoma. In all the tumours, a routine next-generation sequencing (NGS) study detected a mutation in the DICER1 gene, suggestive of germline involvement, which was later confirmed in peripheral blood using Sanger sequencing.