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J Pediatr Hematol Oncol. 2016 Jan;38(1):e21-5. doi: 10.1097/MPH.0000000000000463.

Genomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a Pediatric Patient.

Author information

1
*Perlmutter Cancer Center at NYU, New York University Langone Medical Center †Department of Pathology, Ichan School of Medicine at Mount Sinai, New York, NY.

Abstract

Primary neuroendocrine carcinomas (NEC) are rare tumors in children and young adults, resulting in a lack of standardized treatment approach. To refine the molecular taxonomy of these rare tumors, we performed whole exome sequencing in a pediatric patient with mediastinal NEC. We identified a somatic mutation in HRAS gene and LOH regions in NF2, MYO18B, and RUX3 genes. In addition, a germline heterozygous somatic variant in BRCA2 with LOH at that same position in the tumor tissue was also found. Our data provide valuable insight into the genomic landscape of this tumor, prompting further investigation of therapeutic targets.

PMID:
26558807
PMCID:
PMC4681625
DOI:
10.1097/MPH.0000000000000463
[Indexed for MEDLINE]
Free PMC Article

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