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Mutiple DICER1 ‐related lesions associated with a germline deep intronic mutation
Author(s) -
Verrier Florian,
Dubois d'Enghien Catherine,
GauthierVillars Marion,
Bonadona Valérie,
FaureConter Cécile,
Dijoud Frédérique,
StoppaLyonnet Dominique,
Houdayer Claude,
Golmard Lisa
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27005
Subject(s) - germline , mutation , germline mutation , medicine , genetics , cancer research , gene , biology
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.