hrp0089rfc14.4 | Multisystem Endocrine Disorders | ESPE2018
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...