Rearrangements and aberrant expression of the retinoic acid receptor α gene in acute promyelocytic leukemias

Although acute promyelocytic leukemias (APLs) are consistently associated with a reciprocal chromosome 15;17 translocation, the gene(s) directly affected by the breakpoints have never been isolated. The chromosome 17 breakpoint maps to near the retinoic acid receptor α (RARa) locus. Investigation of 20 APLs and a large series of other neoplastic patients and normal controls revealed RARα gene rearrangements and aberrant transcripts only in the APL cases. These findings suggest that the RARα gene is involved in the APL chromosome 17 breakpoint, is implicated in leukemogenesis, and could be used as a marker for identifying leukemic promyelocytes.