期刊
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
卷 94, 期 4, 页码 518-527出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.2008.001347
关键词
T-cell prolymphocytic leukemia; SNP array; uniparental disomy; copy number change
类别
资金
- Parker Hughes Fund
- National Institutes of Health
- Deutsche Forschungsgemeinschaft [81711-1]
- Tower Cancer Research Foundation
- Department of Health, Welfare and Labor
- MEXT of the Japanese government
- Medical Research Council [MC_U132670597] Funding Source: researchfish
- MRC [MC_U132670597] Funding Source: UKRI
Background T-cell prolymphocytic leukemia is a rare aggressive lymphoproliferative disease with a mature T-cell phenotype and characteristic genomic lesions such as inv(14)(q11q34), t(14-14)(q11;q32) or t(X; 14)(q28-q11), mutation of the ATM gene on chromosome 11 and I secondary alterations such as deletions of chromosome 8p and duplications of 8q. Design and Methods We analyzed malignant cells from 18 patients with T-cell prolymphocytic leukemia using high density 250K single nucleotide polymorphism arrays and molecular allelokaryotyping to refine understanding of known alterations and identify new target genes. Results Our analyses revealed that characteristic disruptions of chromosome 14 are frequently unbalanced. In the commonly deleted region on chromosome 11, we found recurrent microdeletions targeting the microRNA 34b/c and the transcription factors ETS1 and FLI1. On chromosome 8, we identified genes such as PLEKHA2, NBS1, NOV and MYST3 to be involved in breakpoints. New recurrent alterations were identified on chromosomes 5p, 12p, 13q, 17 and 22 with a common region of acquired uniparental disomy in four samples on chromosome 17q. Single nucleotide polymorphism array results were confirmed by direct sequencing and quantitative real-time polymerase chain reaction. Conclusions The first high density single nucleotide polymorphism array allelokaryotyping of T-cell prolymphocytic leukemia genomes added substantial new details about established alterations in this disease and moreover identified numerous new potential target genes in Manuscript accepted December common breakpoints, deletions and regions of acquired uniparental disomy.
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