title: RAR-alpha gene rearrangements as a genetic marker for diagnosis and monitoring in acute promyelocytic leukemia.
abstract: 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.
authors.affiliation: Clinica Pediatrica Università di Milano, Ospedale S. Gerardo, Monza, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Biondi
authors.forename: A
authors.initials: A
authors.lastname: Rambaldi
authors.forename: M
authors.initials: M
authors.lastname: Alcalay
authors.forename: P P
authors.initials: PP
authors.lastname: Pandolfi
authors.forename: F
authors.initials: F
authors.lastname: Lo Coco
authors.forename: D
authors.initials: D
authors.lastname: Diverio
authors.forename: V
authors.initials: V
authors.lastname: Rossi
authors.forename: A
authors.initials: A
authors.lastname: Mencarelli
authors.forename: L
authors.initials: L
authors.lastname: Longo
authors.forename: D
authors.initials: D
authors.lastname: Zangrilli
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D004273:DNA, Neoplasm; D005819:Genetic Markers; D018168:Receptors, Retinoic Acid; D014212:Tretinoin