Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes Journal Article

   

Authors:	Giulino-Roth, L.; Wang, K.; MacDonald, T. Y.; Mathew, S.; Tam, Y.; Cronin, M. T.; Palmer, G.; Lucena-Silva, N.; Pedrosa, F.; Pedrosa, M.; Teruya-Feldstein, J.; Bhagat, G.; Alobeid, B.; Leoncini, L.; Bellan, C.; Rogena, E.; Pinkney, K. A.; Rubin, M. A.; Ribeiro, R. C.; Yelensky, R.; Tam, W.; Stephens, P. J.; Cesarman, E.
Article Title:	Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes
Abstract:	To ascertain the genetic basis of pediatric Burkitt lymphoma (pBL), we performed clinical-grade next-generation sequencing of 182 cancer-related genes on 29 formalin-fixed, paraffin embedded primary pBL samples. Ninety percent of cases had at least one mutation or genetic alteration, most commonly involving MYC and TP53. EBV(-) cases were more likely than EBV(+) cases tohave multiple mutations (P < .0001). Alterations in tumor-related genes not previously described in BL were identified. Truncating mutations in ARID1A, a member of the SWI/SNF nucleosome remodeling complex, were seen in 17% of cases. MCL1 pathway alterations were found in 22% of cases and confirmed in an expanded panel. Other clinically relevant genomic alterations were found in 20% of cases. Our data suggest the roles of MCL1 and ARID1A in BL pathogenesis and demonstrate that comprehensive genomic profiling may identify additional treatment options in refractory disease. © 2012 by The American Society of Hematology.
Journal Title:	Blood
Volume:	120
Issue:	26
ISSN:	0006-4971
Publisher:	American Society of Hematology
Date Published:	2012-12-20
Start Page:	5181
End Page:	5184
Language:	English
DOI:	10.1182/blood-2012-06-437624
PROVIDER:	scopus
PUBMED:	23091298
PMCID:	PMC3537311
DOI/URL:	http://www.scopus.com/inward/record.url?eid=2-s2.0-84871498761&partnerID=40&md5=593cc4e1652b30a04ea216785978f989
Notes:	--- - "Export Date: 2 January 2013" - "CODEN: BLOOA" - "Source: Scopus"

https://synapse.mskcc.org/synapse/works/has_related_data_chk/37319