Mosaic DICER1 RNase IIIb hotspot mutation with multiple tumors: case report and literature review
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.
Authors
- Ruolan Guo (ORCID: https://orcid.org/0000-0002-3378-2008)
- Chao Duan (ORCID: https://orcid.org/0000-0003-4423-2156)
- Wen Zhao (ORCID: https://orcid.org/0000-0002-6329-5913)
- Mei Dong (ORCID: https://orcid.org/0000-0001-9688-5189)
- Mei Jin
- C L Cui
- Tong Yu
- Libing Fu
- Yan Su
- Yanchao Qu
- Peiyi Yang
- Xiaoman Wang
- Jie Yu
Institutions
- Capital Medical University (CN)
- Center for Children (US)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2026-04-27
- DOI
- https://doi.org/10.3389/fonc.2026.1777961
- Primary Topic
- Congenital Diaphragmatic Hernia Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China