RAR-alpha gene rearrangements as a genetic marker for diagnosis and monitoring in acute promyelocytic leukemia.
Acute promyelocytic leukemias (APLs) are characterized by a translocation that involves chromosomes 15 and 17. The translocation breakpoints have recently been identified and shown to involve the RAR-alpha gene on 17 and myl on 15. Here we report Southern blotting analysis of 26 APLs, including cases with normal karyotypes and atypical morphology, which showed RAR-alpha rearrangements in 92% cases, myl rearrangements in 73%, and either RAR-alpha or myl rearrangements in 100%. Despite a negative clinical and morphologic picture, DNA rearrangement analysis showed that neoplastic promyelocytes persisted in the bone marrow of two patients sampled after induction chemotherapy. Therefore, the RAR-alpha and myl rearrangements provide molecular markers for accurately diagnosing APLs and monitoring the course of the disease during and after chemotherapy.
Biondi
A
A
Clinica Pediatrica Università di Milano, Ospedale S. Gerardo, Monza, Italy.
Rambaldi
A
A
Alcalay
M
M
Pandolfi
P P
PP
Lo Coco
F
F
Diverio
D
D
Rossi
V
V
Mencarelli
A
A
Longo
L
L
Zangrilli
D
D
D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D001853:Bone Marrow / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D004273:DNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D015321:Gene Rearrangement; D005819:Genetic Markers; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D018168:Receptors, Retinoic Acid; D015183:Restriction Mapping; D014178:Translocation, Genetic; D014212:Tretinoin / Q000378:metabolism
D002352:Carrier Proteins; D004273:DNA, Neoplasm; D005819:Genetic Markers; D018168:Receptors, Retinoic Acid; D014212:Tretinoin