Title | Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Authors | Giulino-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 |
Journal | Blood |
Volume | 120 |
Issue | 26 |
Pagination | 5181-4 |
Date Published | 2012 Dec 20 |
ISSN | 1528-0020 |
Keywords | Adolescent, 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. |
DOI | 10.1182/blood-2012-06-437624 |
Alternate Journal | Blood |
PubMed ID | 23091298 |
PubMed Central ID | PMC3537311 |
Grant List | R01 CA068939 / CA / NCI NIH HHS / United States R01CA068939 / CA / NCI NIH HHS / United States |