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

TitleTargeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes.
Publication TypeJournal Article
Year of Publication2012
AuthorsGiulino-Roth L, Wang K, MacDonald TY, Mathew S, Tam Y, Cronin MT, Palmer G, Lucena-Silva N, Pedrosa F, Pedrosa M, Teruya-Feldstein J, Bhagat G, Alobeid B, Leoncini L, Bellan C, Rogena E, Pinkney KA, Rubin MA, Ribeiro RC, Yelensky R, Tam W, Stephens PJ, Cesarman E
JournalBlood
Volume120
Issue26
Pagination5181-4
Date Published2012 Dec 20
ISSN1528-0020
KeywordsAdolescent, Apoptosis, Apoptosis Regulatory Proteins, Burkitt Lymphoma, Child, Child, Preschool, Chromatin Assembly and Disassembly, Gene Frequency, Genes, Neoplasm, Genome, Genomics, Humans, Infant, Mutation, Sequence Analysis, DNA, Young Adult
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 to have 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.

DOI10.1182/blood-2012-06-437624
Alternate JournalBlood
PubMed ID23091298
PubMed Central IDPMC3537311
Grant ListR01 CA068939 / CA / NCI NIH HHS / United States
R01CA068939 / CA / NCI NIH HHS / United States