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- 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.
- Authors
Schiffman, Joshua D.; Lorimer, Patrick D.; Rodic, Vladimir; Jahromi, Mona S.; Downie, Jonathan M.; Bayerl, Michael G.; Sanmann, Jennifer N.; Althof, Pamela A.; Sanger, Warren G.; Barnette, Phillip; Perkins, Sherrie L.; Miles, Rodney R.
- Abstract
Summary 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.
- Subjects
PEDIATRICS; GENETICS; LYMPHOMAS; BIOMARKERS; TUMORS; LOCUS (Genetics); BURKITT'S lymphoma
- Publication
British Journal of Haematology, 2011, Vol 155, Issue 4, p477
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/j.1365-2141.2011.08883.x