PML / RARA t(15;17) Fusion probe hybridized to a normal metaphase (2R2G).
A structural rearrangement involving chromosomes 15 and 17 in acute promyelocytic leukemia (APL) was first recognized in 1977. The critical junction is located on the der(15) chromosome and consists of the 5' portion of PML fused to virtually all of the RARA gene. The PML/RARA fusion protein interacts with a complex of molecules known as nuclear co-repressors and histone deacetylase. This complex binds to the fusion protein and blocks the transcription of target genes. Other less common variant translocations fuse the RARA gene on 17q21 to the PLZF, NPM, NUMA, and STAT5b genes, respectively. The PML/RARA t(15;17) Fusion specific FISH probe is optimized to detect the reciprocal translocation t(15;17) (q24;q21) in a dual-color, dual-fusion assay.
References: Schad et al, 1994, Mayo Clin Proc, 69; 1047-1053. Brockman et al, 2003, Cancer Genet Cytogenet, 145; 144-151.