title: Rearrangements and aberrant expression of the retinoic acid receptor alpha gene in acute promyelocytic leukemias.
abstract: 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 alpha (RAR alpha) locus. Investigation of 20 APLs and a large series of other neoplastic patients and normal controls revealed RAR alpha gene rearrangements and aberrant transcripts only in the APL cases. These findings suggest that the RAR alpha gene is involved in the APL chromosome 17 breakpoint, is implicated in leukemogenesis, and could be used as a marker for identifying leukemic promyelocytes.
authors.affiliation: Istituto di Clinica Medica I, University of Perugia, Policlinico Monteluce, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Longo
authors.forename: P P
authors.initials: PP
authors.lastname: Pandolfi
authors.forename: A
authors.initials: A
authors.lastname: Biondi
authors.forename: A
authors.initials: A
authors.lastname: Rambaldi
authors.forename: A
authors.initials: A
authors.lastname: Mencarelli
authors.forename: F
authors.initials: F
authors.lastname: Lo Coco
authors.forename: D
authors.initials: D
authors.lastname: Diverio
authors.forename: L
authors.initials: L
authors.lastname: Pegoraro
authors.forename: G
authors.initials: G
authors.lastname: Avanzi
authors.forename: A
authors.initials: A
authors.lastname: Tabilio
mesh_terms: D015152:Blotting, Northern; D015139:Blotting, Southern; D002352:Carrier Proteins / Q000235:genetics*; D015342:DNA Probes; D004273:DNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D015321:Gene Rearrangement; D005796:Genes; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000378:metabolism; D018168:Receptors, Retinoic Acid; D015183:Restriction Mapping; D014212:Tretinoin / Q000378:metabolism
chemical_list: D002352:Carrier Proteins; D015342:DNA Probes; D004273:DNA, Neoplasm; D018168:Receptors, Retinoic Acid; D014212:Tretinoin