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Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma

Nozawa, Akifumi MD*; Ozeki, Michio MD, PhD*; Kawasaki, Riko; Nakama, Mina PhD; Iwata, Hisashi MD, PhD§; Yamamoto, Toshiyuki MD, PhD; Fukao, Toshiyuki MD, PhD*

Journal of Pediatric Hematology/Oncology: December 21, 2018 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001392
Clinical and Laboratory Observations: PDF Only

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.

*Department of Pediatrics, Gifu University Graduate School of Medicine

Gifu University School of Medicine

Division of Clinical Genetics

§Department of General Thoracic Surgery, Gifu University Hospital, Gifu

Department of Genomic Medicine, Institute of Medical Genetics, Tokyo Women’s Medical University, Shinjuku-ku, Tokyo, Japan

The present study was supported in part by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan (20772106: a Health and Labor Science Research Grant for Research on Intractable Diseases from the Ministry of Health, Labor, and Welfare of Japan received by A.N.).

The authors declare no conflict of interest.

Reprints: Michio Ozeki, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan (e-mail:

Received August 15, 2018

Accepted November 18, 2018

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