Bhatla Teena, Dandekar Smita, Lu Benjamin Y, Wang Jinhua, Han Eugenia, Bitterman Danielle, Jones Courtney L, Evensen Nikki A, Magid Margret, Meyer Julia A, Carroll William L
*Perlmutter Cancer Center at NYU, New York University Langone Medical Center †Department of Pathology, Ichan School of Medicine at Mount Sinai, New York, NY.
J Pediatr Hematol Oncol. 2016 Jan;38(1):e21-5. doi: 10.1097/MPH.0000000000000463.
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.
原发性神经内分泌癌（NEC）在儿童和青年中是罕见肿瘤，导致缺乏标准化治疗方法。为完善这些罕见肿瘤的分子分类，我们对一名患有纵隔NEC的儿科患者进行了全外显子组测序。我们在HRAS基因以及NF2、MYO18B和RUX3基因的杂合性缺失（LOH）区域中发现了体细胞突变。此外，还在肿瘤组织中相同位置发现了BRCA2基因的种系杂合体细胞变异以及杂合性缺失。我们的数据为该肿瘤的基因组格局提供了有价值的见解，促使对治疗靶点进行进一步研究。
