Whole exome sequencing identified sixty-five coding mutations in four neuroblastoma tumors.

Autor:	Miller AL; Department of Pharmacology and Toxicology, University of Alabama at Birmingham, Birmingham, AL, USA., Garcia PL; Department of Pharmacology and Toxicology, University of Alabama at Birmingham, Birmingham, AL, USA., Pressey JG; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Beierle EA; Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA., Kelly DR; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Pathology and Laboratory Medicine, Children's of Alabama, Birmingham, AL, USA., Crossman DK; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Council LN; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA.; The Birmingham Veterans Administration Medical Center, Birmingham, AL, USA., Daniel R; Department of Pathology and Laboratory Medicine, Children's of Alabama, Birmingham, AL, USA., Watts RG; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Pediatrics, LSUHSC School of Medicine, New Orleans, LA, USA., Cramer SL; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.; Palmetto Health Children's Hospital, Columbia, SC, USA., Yoon KJ; Department of Pharmacology and Toxicology, University of Alabama at Birmingham, Birmingham, AL, USA. kyoon@uab.edu.
Jazyk:	angličtina
Zdroj:	Scientific reports [Sci Rep] 2017 Dec 19; Vol. 7 (1), pp. 17787. Date of Electronic Publication: 2017 Dec 19.
DOI:	10.1038/s41598-017-17162-y
Abstrakt:	Neuroblastoma is a pediatric tumor characterized by histologic heterogeneity, and accounts for ~15% of childhood deaths from cancer. The five-year survival for patients with high-risk stage 4 disease has not improved in two decades. We used whole exome sequencing (WES) to identify mutations present in three independent high-risk stage 4 neuroblastoma tumors (COA/UAB-3, COA/UAB -6 and COA/UAB -8) and a stage 3 tumor (COA/UAB-14). Among the four tumors WES analysis identified forty-three mutations that had not been reported previously, one of which was present in two of the four tumors. WES analysis also corroborated twenty-two mutations that were reported previously. No single mutation occurred in all four tumors or in all stage 4 tumors. Three of the four tumors harbored genes with CADD scores ≥20, indicative of mutations associated with human pathologies. The average depth of coverage ranged from 39.68 to 90.27, with >99% sequences mapping to the genome. In summary, WES identified sixty-five coding mutations including forty-three mutations not reported previously in primary neuroblastoma tumors. The three stage 4 tumors contained mutations in genes encoding protein products that regulate immune function or cell adhesion and tumor cell metastasis.
Databáze:	MEDLINE
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