Mutiple DICER1-related lesions associated with a germline deep intronic mutation.
Florian VerrierCatherine Dubois d'EnghienMarion Gauthier-VillarsValérie BonadonaCécile Faure-ConterFrédérique DijoudDominique Stoppa-LyonnetClaude HoudayerLisa GolmardPublished in: Pediatric blood & cancer (2018)
Germline DICER1 pathogenic variants predispose to numerous benign and malignant tumors. In this report, we describe DICER1 gene analysis in an adolescent diagnosed with multinodular goiter, ovarian Sertoli-Leydig cell tumor, and lung cyst. DICER1 mutational screening at the DNA level failed to detect any pathogenic variant. Subsequent messenger RNA (mRNA) analysis revealed a 132 nucleotide intronic sequence exonization. This truncating event was caused by a deep intronic mutation generating a de novo acceptor splice site. This study demonstrates that some undetected DICER1 mutations should be investigated at the mRNA level.