DICER1 mutational analysis of pleuropulmonary blastoma: a single institutional experience.

Abstract excerpt

BACKGROUND: DICER1 syndrome is a relatively recently identified hereditary tumor predisposition syndrome, strongly associated with pleuropulmonary blastoma (PPB) and other neoplasms, but its actual status in Japan is unclear. METHODS: We retrospectively performed germline DICER1 gene analysis in patients with suspected PPB at our institute between 2003 and 2022. Relevant clinical data were extracted from the...

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• Child
• Child, Preschool
• DEAD-box RNA Helicases
• DNA Mutational Analysis
• Germ-Line Mutation