Variant-type PML-RARα fusion transcript in acute promyelocytic leukemia: Use of a cryptic coding sequence from intron 2 of the RARα gene and identification of a new clinical subtype resistant to retinoic acid therapy

摘要

The physiologic actions of retinoic acids (RAs) are mediated through RA receptors (RARs) and retinoid X receptors (RXRs). The RARα gene has drawn particular attention because it is the common target in all chromosomal translocations in acute promyelocytic leukemia (APL), a unique model in cancer research that responds to the effect of RA. In the great majority of patients with APL, RARα is fused to the PML gene as a result of the t(15;17) translocation. Three distinct types of PML-RARα transcripts, long (L), short (S), and variant (V), were identified.