Mutiple DICER1-related lesions associated with a germline deep intronic mutation.
Pediatr Blood Cancer
; 65(6): e27005, 2018 06.
Article
em En
| MEDLINE
| ID: mdl-29469200
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Íntrons
/
Tumor de Células de Sertoli-Leydig
/
Mutação em Linhagem Germinativa
/
Ribonuclease III
/
RNA Helicases DEAD-box
/
Bócio Nodular
/
Pneumopatias
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Aged
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article