Genomic characterization of poorly differentiated neuroendocrine carcinoma in a pediatric patient

Teena Bhatla, Smita Dandekar, Benjamin Y. Lu, Jinhua Wang, Eugenia Han, Danielle Bitterman, Courtney L. Jones, Nikki A. Evensen, Margret Magid, Julia A. Meyer, William L. Carroll

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e21-e25
JournalJournal of pediatric hematology/oncology
Volume38
Issue number1
DOIs
StatePublished - 2016

Keywords

  • BRCA2 mutations
  • Neuroendocrine carcinoma
  • Whole exome sequencing

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    Bhatla, T., Dandekar, S., Lu, B. Y., Wang, J., Han, E., Bitterman, D., Jones, C. L., Evensen, N. A., Magid, M., Meyer, J. A., & Carroll, W. L. (2016). Genomic characterization of poorly differentiated neuroendocrine carcinoma in a pediatric patient. Journal of pediatric hematology/oncology, 38(1), e21-e25. https://doi.org/10.1097/MPH.0000000000000463