期刊
PEDIATRIC BLOOD & CANCER
卷 65, 期 6, 页码 -出版社
WILEY
DOI: 10.1002/pbc.27005
关键词
cryptic exon; deep intronic mutation; DICER1; lung cyst; multinodular goiter; ovarian Sertoli-Leydig cell tumor
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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