title: [Rearrangement of the alpha RAR and pml genes in promyelocytic leukemia].
abstract: The purpose of this work was to assess the re-arrangement of RAR-alpha and pml genes in a group of patients with acute promyelocytic leukaemia (APL) in different stages of the disease. Twenty-two patients with APL were studied. Of them, 17 were at the onset and 5 had achieved already complete haematological remission (CR). Evolutive post-remission studies were performed in 8 cases. The cytogenetic analysis was carried out at diagnosis by means of the G-band technique in 14 patients. The molecular study of RAR-alpha and pml genes was made with the Southern method. The common anomaly, t(15;17) was present in 7 of the 9 cases with evaluable metaphases (78%), in one case a 17q+ was the only cytogenetic alteration and another patient had normal karyotype. The molecular study showed re-arrangement of one or both genes involved in the translocation in the 17 patients studied at the onset of the APL. Those patients studied only in CR showed a germinal configuration. Rearrangement bands reappeared in 3 of the 8 patients evaluated along their clinical course. These results are in concordance with previous studies, in which re-arrangement of RAR-alpha and pml genes had been found in APL, despite there are instances in which no cytogenetic anomalies are found; this confirms the interest of molecular studies in the diagnosis and follow-up of APL patients.
authors.affiliation: Instituto de Hematología e Inmunología, La Habana, Cuba.
authors.forename: L
authors.initials: L
authors.lastname: Corral Abascal
authors.forename: A
authors.initials: A
authors.lastname: Muñiz Fernández
authors.forename: C
authors.initials: C
authors.lastname: Alaez Verson
authors.forename: G
authors.initials: G
authors.lastname: Hernández Pérez
authors.forename: E
authors.initials: E
authors.lastname: Espinosa Martínez
authors.forename: A
authors.initials: A
authors.lastname: González Otero
authors.forename: P
authors.initials: P
authors.lastname: Hernández Ramírez
authors.forename: G
authors.initials: G
authors.lastname: Martínez Antuña
mesh_terms: D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000071156:Promyelocytic Leukemia Protein; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000071156:Promyelocytic Leukemia Protein; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C070576:PML protein, human
vernacular_title: Reordenamiento de los genes RAR alpha y pml en la leucemia promielocítica.