Multiclonal monoallelic 13q14 interstitial deletion in chronic lymphocytic leukemia

摘要

Although 13ql4 deletion, as the most frequent chromosomal aberration in chronic lymphocytic leukemia (CLL), has been investigated over a long period of time, the issue is so complex that both its biological characteristics and its clinical impact have not yet been fully evaluated. Using genomic profiling, the extent of 13ql4 deletion has been shown to be highly heterogeneous. Nevertheless, the most frequently deleted region at a size of approximately 900 kb, including miR15a, miR16-l and DLEU7 tumor suppressor genes, has been established [1,2]. Deletions larger than this minimal deleted region (MDR), often containing genes centromeric to the MDR (type II or class II), are reported to be associated with an increased risk of disease progression [1,2]. Moreover, the significance of large deletions with RBI gene loss (type II) has been underlined by their association with elevated genomic complexity [3], which has been established as an independent marker of aggressive CLL and short survival [4].