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J Pediatr Hematol Oncol ; 42(4): 307-309, 2020 05.
Article in English | MEDLINE | ID: mdl-30585947

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.


Subject(s)
DEAD-box RNA Helicases/genetics , Homozygote , Lung Neoplasms/genetics , Mutation , Neoplasm Proteins/genetics , Pulmonary Blastoma/genetics , Ribonuclease III/genetics , Child, Preschool , Humans , Lung Neoplasms/therapy , Male , Pulmonary Blastoma/therapy
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