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Research Article: Mosaic DICER1 RNase IIIb hotspot mutation with multiple tumors: case report and literature review

Date Published: 2026-04-27

Abstract:
We present a case of a 6-month-old boy who was diagnosed with Peutz–Jeghers polyps, intestine fusiform mesenchymal tumor, Wilms tumor, and Ir type pleuropulmonary blastoma (PPB) successively, with mosaic DICER1 RNase IIIb hotspot mutation: c.5113G>A p.E1705K. The patient underwent surgeries to resect the intestine polyps, intestine tumor, Wilms tumor, nephroblastomatosis, and PPB, combined with chemotherapy aimed at Wilms tumor and PPB. Diseases were stable at follow-up 27 months since the initial diagnosis.

Introduction:
The DICER1 gene is located on chromosome 14q32.13 and plays a crucial role in the control of protein translation. Its product, i.e., dicer protein, is a ribonuclease (RNase) III endoribonuclease that is essential for the production of microRNAs (miRNAs), which are formed by the cleavage of pre-miRNA or double-stranded RNA ( 1 ). DICER1 -related tumor predisposition is a cancer-predisposing disorder caused by pathogenic variants in the DICER1 gene, which are associated with lifetime risks of a variety of neoplastic…

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