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

doi:10.1097/MPH.0000000000000463

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 journal › Article

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 language	English (US)
Pages (from-to)	e21-e25
Journal	Journal of pediatric hematology/oncology
Volume	38
Issue number	1
DOIs	https://doi.org/10.1097/MPH.0000000000000463
State	Published - Jan 1 2016

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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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

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. / Genomic characterization of poorly differentiated neuroendocrine carcinoma in a pediatric patient. In: Journal of pediatric hematology/oncology. 2016 ; Vol. 38, No. 1. pp. e21-e25.

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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.",

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Genomic characterization of poorly differentiated neuroendocrine carcinoma in a pediatric patient. / 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.

In: Journal of pediatric hematology/oncology, Vol. 38, No. 1, 01.01.2016, p. e21-e25.

Research output: Contribution to journal › Article

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AU - Bitterman, Danielle

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AU - Carroll, William L.

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