title: Rearrangements of the RARA and PML genes in a cytogenetic variant of acute promyelocytic leukemia.
abstract: Acute promyelocytic leukemia (APL) is usually associated with the translocation t(15;17)(q22;q12-21), which disrupts the retinoic acid receptor alpha (RARA) gene on chromosome 17 and the PML gene on chromosome 15. We report a patient with typical APL without the common t(15;17). Cytogenetic studies demonstrated a normal appearance of chromosomes 15, while a small marker seemed to be an i(17q-). Molecular analysis showed RARA and PML rearrangements, suggesting that the chromosome abnormality corresponded to a variant translocation.
authors.affiliation: Laboratoire de Génétique, CHU Angers, France.
authors.forename: L
authors.initials: L
authors.lastname: Baranger
authors.forename: M
authors.initials: M
authors.lastname: Gardembas
authors.forename: J
authors.initials: J
authors.lastname: Hillion
authors.forename: C
authors.initials: C
authors.lastname: Foussard
authors.forename: N
authors.initials: N
authors.lastname: Ifrah
authors.forename: M
authors.initials: M
authors.lastname: Boasson
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D000328:Adult; D016026:Bone Marrow Transplantation; D002352:Carrier Proteins / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure*; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000601:surgery; D008297:Male; D018168:Receptors, Retinoic Acid; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D018168:Receptors, Retinoic Acid