Case report and literature review on mosaic DICER1 mutations and disease stability in a 6-month-old boy

This source is a case report and literature review focusing on a 6-month-old boy with mosaic DICER1 RNase IIIb hotspot mutation. The patient presented with Peutz–Jeghers polyps, an intestine fusiform mesenchymal tumor, Wilms tumor, Ir type pleuropulmonary blastoma, and nephroblastomatosis. The review synthesizes the clinical course of this specific patient alongside relevant literature.

The patient underwent surgeries to resect the intestine polyps, intestine tumor, Wilms tumor, nephroblastomatosis, and PPB. Chemotherapy was also administered aimed at Wilms tumor and PPB. The review highlights that diseases were stable at 27 months since the initial diagnosis. No specific adverse events or tolerability data were reported for this individual case.

The authors acknowledge the inherent limitations of a single case report, noting that the sample size is one. Because the study type is a case report, causal inferences about treatment efficacy or natural history cannot be drawn from this evidence alone. The review serves to document a rare presentation and potential management strategies rather than establishing generalizable clinical guidelines.

Practice relevance is limited by the lack of a control group and the unique genetic profile of the patient. Clinicians should interpret these findings with caution, recognizing that outcomes may vary significantly in other patients with similar genetic mutations but different clinical presentations.