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Updated: Jan 31, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
Published on: August 23, 2024
Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma
Akifumi Nozawa1, Michio Ozeki1, Riko Kawasaki2
1Department of Pediatrics, Gifu University Graduate School of Medicine.
Abstract:
Pleuropulmonary blastoma (PPB) is a rare, progressive, and aggressive malignant intrathoracic tumor observed during childhood. Mutations in the DICER1 gene have been considered a major etiologic factor of PPB and cause a variety of tumor types in children and young adults. We present a 3-year-old boy with type II PPB. Multimodal treatment consisting of surgery and neoadjuvant chemotherapy was effective. DICER1 mutations were examined by Sanger sequencing, microarray comparative genomic hybridization, and microsatellite markers. The results revealed that a somatic biallelic DICER1 mutation with uniparental disomy was present in the tumor tissue.
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