Journal
PEDIATRIC BLOOD & CANCER
Volume 65, Issue 6, Pages -Publisher
WILEY
DOI: 10.1002/pbc.27005
Keywords
cryptic exon; deep intronic mutation; DICER1; lung cyst; multinodular goiter; ovarian Sertoli-Leydig cell tumor
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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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