dc.contributor.author | Giulino-Roth Lisa. | |
dc.contributor.author | Wang Kai. | |
dc.contributor.author | MacDonald Theresa Y. | |
dc.contributor.author | Mathew Susan. | |
dc.contributor.author | Tam Yifang. | |
dc.contributor.author | Cronin Maureen T. | |
dc.contributor.author | Palmer Gary. | |
dc.contributor.author | Lucena-Silva Norma. | |
dc.contributor.author | Pedrosa Francisco. | |
dc.contributor.author | Pedrosa Marcia. | |
dc.contributor.author | Teruya-Feldstein Julie. | |
dc.contributor.author | Bhagat Govind. | |
dc.contributor.author | Alobeid Bachir. | |
dc.contributor.author | Leoncini Lorenzo. | |
dc.contributor.author | Bellan Cristiana. | |
dc.contributor.author | Rogena Emily Adhiambo. | |
dc.contributor.author | Pinkney Kerice A. | |
dc.contributor.author | Rubin Mark A. | |
dc.contributor.author | Ribeiro Raul C. | |
dc.contributor.author | Yelensky Roman. | |
dc.contributor.author | Tam Wayne. | |
dc.contributor.author | Stephens Philip J. | |
dc.contributor.author | Cesarman Ethel. | |
dc.date.accessioned | 2013-07-17T06:35:10Z | |
dc.date.available | 2013-07-17T06:35:10Z | |
dc.date.issued | 2012-12 | |
dc.identifier.citation | Blood December 20, 2012 vol. 120 no. 26 5181-5184 | en |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/pubmed/23091298 | |
dc.identifier.uri | http://erepository.uonbi.ac.ke:8080/xmlui/handle/123456789/48254 | |
dc.description.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 | en |
dc.language.iso | en | en |
dc.title | Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes. | en |
dc.type | Article | en |
local.publisher | Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, NY | en |
local.publisher | Department of Pathology and Cell Biology, Division of Hematopathology, Columbia University Medical Center, New York | en |
local.publisher | Department of Pathology, University of Nairobi, Nairobi, Kenya; | en |