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

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
Rogena E
Pinkney KA
Rubin MA
Ribeiro RC
Yelensky R
Tam W
Stephens PJ
Cesarman E.
LEONCINI, LORENZO
BELLAN, CRISTIANA

Publication date

January 2012

DOI

10.1182/blood-2012-06-437624

Abstract

To ascertain the genetic basis of pediatric Burkitt lymphoma (pBL) we performed clinical-grade next generation sequencing (NGS) of 189 cancer-related genes on 29 formalin-fixed paraffin embedded (FFPE) 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<0.0001). 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 ...