Blood · 2012
Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes.
Оценочное исследованиеСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Giulino-Roth Lisa, Wang Kai, MacDonald Theresa Y, Mathew Susan, Tam Yifang, Cronin Maureen T, Palmer Gary, Lucena-Silva Norma, Pedrosa Francisco, Pedrosa Marcia, Teruya-Feldstein Julie, Bhagat Govind, Alobeid Bachir, Leoncini Lorenzo, Bellan Cristiana, Rogena Emily, Pinkney Kerice A, Rubin Mark A, Ribeiro Raul C, Yelensky Roman, Tam Wayne, Stephens Philip J, Cesarman Ethel
Аннотация
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.