Online Articles: Clinical and Laboratory ObservationsGenomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a Pediatric PatientBhatla, Teena MD*; Dandekar, Smita MD*; Lu, Benjamin Y. MD*; Wang, Jinhua PhD*; Han, Eugenia MD*; Bitterman, Danielle BA*; Jones, Courtney L. PhD*; Evensen, Nikki A. PhD*; Magid, Margret MD†; Meyer, Julia A. PhD*; Carroll, William L. MD*Author Information *Perlmutter Cancer Center at NYU, New York University Langone Medical Center †Department of Pathology, Ichan School of Medicine at Mount Sinai, New York, NY Supported by the NYU Cancer Institute Cancer Center Support Grant (5 P30 CA016087), NYU Genome Technology Core, and Pediatric Cancer Foundation Grant. Present address: Smita Dandekar, MD, Penn State Hershey Children’s Hospital, Hershey, PA 17033. The authors declare no conflict of interest. Reprints: Teena Bhatla, MD, Perlmutter Cancer Center at NYU, New York University Langone Medical Center, Smilow 1207, 522 First Avenue, New York, NY 10016 (e-mail: [email protected]). Received May 21, 2015 Accepted October 5, 2015 Journal of Pediatric Hematology/Oncology: January 2016 - Volume 38 - Issue 1 - p e21-e25 doi: 10.1097/MPH.0000000000000463 Buy Metrics 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. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.