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.
Bibliographical noteFunding Information:
Supported by the NYU Cancer Institute Cancer Center Support Grant (5 P30 CA016087), NYU Genome Technology Core, and Pediatric Cancer Foundation Grant.
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- BRCA2 mutations
- Neuroendocrine carcinoma
- Whole exome sequencing