Mutiple DICER1-related lesions associated with a germline deep intronic mutation

Pediatric Blood & Cancer
Florian VerrierLisa Golmard

Abstract

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.

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Citations

May 16, 2018·Cancers·Jake C RobertsonJulia Thom Oxford
May 1, 2021·Journal of Clinical Medicine·Elisa De PaolisPaola Concolino
Jul 21, 2021·Head and Neck Pathology·Ramona ErberAbbas Agaimy

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