PMID- 26558807
OWN - NLM
STAT- MEDLINE
DCOM- 20160506
LR  - 20200306
IS  - 1536-3678 (Electronic)
IS  - 1077-4114 (Print)
IS  - 1077-4114 (Linking)
VI  - 38
IP  - 1
DP  - 2016 Jan
TI  - Genomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a 
      Pediatric Patient.
PG  - e21-5
LID - 10.1097/MPH.0000000000000463 [doi]
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.
FAU - Bhatla, Teena
AU  - Bhatla T
AD  - *Perlmutter Cancer Center at NYU, New York University Langone Medical Center 
      daggerDepartment of Pathology, Ichan School of Medicine at Mount Sinai, New York, NY.
FAU - Dandekar, Smita
AU  - Dandekar S
FAU - Lu, Benjamin Y
AU  - Lu BY
FAU - Wang, Jinhua
AU  - Wang J
FAU - Han, Eugenia
AU  - Han E
FAU - Bitterman, Danielle
AU  - Bitterman D
FAU - Jones, Courtney L
AU  - Jones CL
FAU - Evensen, Nikki A
AU  - Evensen NA
FAU - Magid, Margret
AU  - Magid M
FAU - Meyer, Julia A
AU  - Meyer JA
FAU - Carroll, William L
AU  - Carroll WL
LA  - eng
GR  - P30 CA016087/CA/NCI NIH HHS/United States
GR  - T32 CA082086/CA/NCI NIH HHS/United States
GR  - 5 P30 CA016087/CA/NCI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Pediatr Hematol Oncol
JT  - Journal of pediatric hematology/oncology
JID - 9505928
SB  - IM
MH  - Carcinoma, Neuroendocrine/*genetics
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genome, Human
MH  - Humans
MH  - Mediastinal Neoplasms/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
PMC - PMC4681625
MID - NIHMS728611
EDAT- 2015/11/13 06:00
MHDA- 2016/05/07 06:00
PMCR- 2017/01/01
CRDT- 2015/11/13 06:00
PHST- 2015/11/13 06:00 [entrez]
PHST- 2015/11/13 06:00 [pubmed]
PHST- 2016/05/07 06:00 [medline]
PHST- 2017/01/01 00:00 [pmc-release]
AID - 10.1097/MPH.0000000000000463 [doi]
PST - ppublish
SO  - J Pediatr Hematol Oncol. 2016 Jan;38(1):e21-5. doi: 10.1097/MPH.0000000000000463.