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 | |
| State | Published - Jan 1 2016 |
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All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology
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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
TY - JOUR
T1 - Genomic characterization of poorly differentiated neuroendocrine carcinoma in a pediatric patient
AU - Bhatla, Teena
AU - Dandekar, Smita
AU - Lu, Benjamin Y.
AU - Wang, Jinhua
AU - Han, Eugenia
AU - Bitterman, Danielle
AU - Jones, Courtney L.
AU - Evensen, Nikki A.
AU - Magid, Margret
AU - Meyer, Julia A.
AU - Carroll, William L.
PY - 2016/1/1
Y1 - 2016/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84952863573&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84952863573&partnerID=8YFLogxK
U2 - 10.1097/MPH.0000000000000463
DO - 10.1097/MPH.0000000000000463
M3 - Article
C2 - 26558807
AN - SCOPUS:84952863573
VL - 38
SP - e21-e25
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 1
ER -