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

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 detec...

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Bibliographic Details
Published in:Pediatric blood & cancer 2018-06, Vol.65 (6), p.e27005-n/a
Main Authors: Verrier, Florian, Dubois d'Enghien, Catherine, Gauthier‐Villars, Marion, Bonadona, Valérie, Faure‐Conter, Cécile, Dijoud, Frédérique, Stoppa‐Lyonnet, Dominique, Houdayer, Claude, Golmard, Lisa
Format: Article
Language:English
Subjects:
Adolescent
Aged
Child
cryptic exon
DEAD-box RNA Helicases - genetics
deep intronic mutation
DICER1
Female
Germ-Line Mutation
Goiter, Nodular - genetics
Goiter, Nodular - pathology
Humans
Introns - genetics
lung cyst
Lung Diseases - genetics
Lung Diseases - pathology
Male
multinodular goiter
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
ovarian Sertoli–Leydig cell tumor
Pedigree
Prognosis
Ribonuclease III - genetics
Sertoli-Leydig Cell Tumor - genetics
Sertoli-Leydig Cell Tumor - pathology
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Summary: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.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.27005