Rearrangements of the RARA and PML genes in a cytogenetic variant of acute promyelocytic leukemia.
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.
Baranger
L
L
Laboratoire de Génétique, CHU Angers, France.
Gardembas
M
M
Hillion
J
J
Foussard
C
C
Ifrah
N
N
Boasson
M
M
Berger
R
R
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
D002352:Carrier Proteins; D018168:Receptors, Retinoic Acid