hrp0089rfc14.4 | Multisystem Endocrine Disorders | ESPE2018

A Novel Germline DICER1 Mutation in a Girl with Multinodular Goiter and Ovarian Sertoli-Leydig Cell Tumor

Settas Nikolaos , Michala Lina , Berthon Annabel , Faucz Fabio , Iliadi Alexandra , Gkika Anna , Dacou-Voutetakis Catherine , Stratakis Constantine , Voutetakis Antonis

Background: DICER1 is an endoribonuclease that acts post-transcriptionally by processing mRNA into siRNA and microRNA, thus leading to mRNA downregulation. DICER1 syndrome is usually caused by germline variants and is characterized by a variety of benign or malignant tumors: pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, cystic nephroma, pituitary blastoma and multinodular goitre. Patients with germline aberrations in the DICER1 gene may carry additional...