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., Rambaldi, A., Alcalay, M., Pandolfi, P., LO COCO, F., Diverio, D., et al. (1991). RAR-alpha gene rearrangements as a genetic marker for diagnosis and monitoring in acute promyelocytic leukemia. BLOOD, 77(7), 1418-1422.

RAR-alpha gene rearrangements as a genetic marker for diagnosis and monitoring in acute promyelocytic leukemia

LO COCO, FRANCESCO;
1991-04-01

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.
1-apr-1991
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - MALATTIE DEL SANGUE
English
Adolescent; Adult; Blotting, Southern; Bone Marrow; Carrier Proteins; Cells, Cultured; Child; Child, Preschool; Chromosome Banding; DNA, Neoplasm; Female; Humans; Leukemia, Promyelocytic, Acute; Male; Middle Aged; Prognosis; Receptors, Retinoic Acid; Restriction Mapping; Translocation, Genetic; Tretinoin; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 17; Gene Rearrangement; Genetic Markers
Biondi, A., Rambaldi, A., Alcalay, M., Pandolfi, P., LO COCO, F., Diverio, D., et al. (1991). RAR-alpha gene rearrangements as a genetic marker for diagnosis and monitoring in acute promyelocytic leukemia. BLOOD, 77(7), 1418-1422.
Biondi, A; Rambaldi, A; Alcalay, M; Pandolfi, P; LO COCO, F; Diverio, D; Rossi, V; Mencarelli, A; Longo, L; Zangrilli, D
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/161105
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