title: Genome wide copy number analysis of paediatric Burkitt lymphoma using formalin-fixed tissues reveals a subset with gain of chromosome 13q and corresponding miRNA over expression.
abstract: The majority of paediatric Burkitt lymphoma (pBL) patients that relapse will die of disease, but markers for this high-risk subset are unknown. MYC translocations characterize pBL, but additional genetic changes may relate to prognosis and serve as potential biomarkers. We utilized a molecular inversion probe single nucleotide polymorphism assay to perform high resolution, genome-wide copy number analysis on archival formalin-fixed, paraffin-embedded pBL and germline tissues. We identified copy number abnormalities (CNAs) in 18/28 patients (64%) with a total of 62 CNAs that included 32 gains and 30 copy number losses. We identified seven recurrent CNAs including 1q gain (7/28, 25%), 13q gain (3/28, 11%), and 17p loss (4/28, 14%). The minimum common amplified region on 13q was at 13q31 and included the MIR17HG (MIR17-92) locus. Samples with this gain had higher levels of MIR17 RNA and showed a tendency for early relapse. Tumour-specific uniparental disomy was identified in 32% of cases and usually was recurrent. These results demonstrate that high-resolution copy number analysis can be performed on archival lymphoma tissue specimens, which has significance for the study of rare diseases.
authors: Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84112-0565, USA.
authors: Joshua D
authors: JD
authors: Schiffman
authors: Patrick D
authors: PD
authors: Lorimer
authors: Vladimir
authors: V
authors: Rodic
authors: Mona S
authors: MS
authors: Jahromi
authors: Jonathan M
authors: JM
authors: Downie
authors: Michael G
authors: MG
authors: Bayerl
authors: Jennifer N
authors: JN
authors: Sanmann
authors: Pamela A
authors: PA
authors: Althof
authors: Warren G
authors: WG
authors: Sanger
authors: Phillip
authors: P
authors: Barnette
authors: Sherrie L
authors: SL
authors: Perkins
authors: Rodney R
authors: RR
authors: Miles
mesh_terms: D000293:Adolescent; D002051:Burkitt Lymphoma / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D056915:DNA Copy Number Variations; D005260:Female; D005557:Formaldehyde; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000096:biosynthesis* / Q000235:genetics; D016612:Paraffin Embedding; D016707:Tissue Fixation
chemical_list: D035683:MicroRNAs; D005557:Formaldehyde