Molecular Study on the Chromosome 15 Breakpoints in the Translocation t(15; 17) in Acute Promyelocytic Leukemia (APL)

摘要

Chromosomal translocation t（15; 17） is a specific marker of acute promyelocytic leukemia （APL）. In this study, molecular cloning of the t（15;17） breakpoint was carried out in a Chinese APL patient. It has been shown that the retinoic acid receptor alpha （RARA） gene, normally located on chromosome 17, was fused with a new transcription unit PML, normally localized on chromosome 15. We have subsequently cloned a portion of the PML gene and generated a panel of probes. A PML gene rearrangement was detected in 33 out of 36 APL cases studied. 24 rearrangements were clustered in a 4.4 kb region, designated here as PMLbcr1 whereas 9 rearrangements were concentrated in a 6.5 kb region, defining another breakpoint cluster region (PMLbcr2). These two types of rearrangement constitute the basis for the heterogeneity of the PML-RARA fusion gene and its possible biological significance remains to be explored.