The retinoic acid alpha receptor gene is frequently disrupted in its 5' part in Chinese patients with acute promyelocytic leukemia.

The t(15;17)(q22;q11-q21) translocation, a hallmark for acute promyelocytic leukemia (APL), has recently been shown to disrupt the retinoic acid-alpha receptor (RARA) gene localized on band 17q21. Leukemic cell DNAs from 16 Chinese patients with APL were analysed by Southern blot hybridization with probes covering the 5' and the 3' parts of the gene. In ten patients, the breakpoints were concentrated within a 5.5 kb EcoRI fragment containing part of intron 1, whereas no rearrangement was detected in the six remaining patients. Genomic amplification of the RARA gene was observed in one case. When RNA was available (six patients), abnormal-sized RARA gene transcripts were observed. Interestingly, no rearranged transcript was found in cells from a patient during a 6-day treatment with all-trans retinoic acid, while bone marrow cells still possessed the translocation.