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

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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Verrier F,Dubois d'Enghien C,Gauthier-Villars M,Bonadona V,Faure-Conter C,Dijoud F,Stoppa-Lyonnet D,Houdayer C,Golmard L

doi

10.1002/pbc.27005

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

e27005

issue

6

eissn

1545-5009

issn

1545-5017

journal_volume

65

pub_type

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