Recent investigations have clarified some of the molecular mechanisms underlying the t(15;17) translocation specific for acute promyelocytic leukaemia (APL). Together with providing new insights into the pathogenesis of the disease, the identification of breakpoints within the RAR-alpha and PML loci on chromosomes 17 and 15 has allowed a new relevant diagnostic tool for the recognition of this leukaemic form. We report the molecular characterization of 6 cases of acute myelogenous leukaemia (AML) in which a diagnosis of typical M3 by conventional morphocytochemistry (FAB criteria) was not accompanied by cytogenetic evidence of the specific t(15;17) aberration. DNA rearrangements were documented in all cases at the PML and RAR-alpha loci. Moreover, in 4 cases also analysed by Northern blot hybridization, we could detect aberrant RAR-alpha transcripts. These findings highlight the specificity of PML/RAR-alpha rearrangements in APL, whereas the lack of t(15;17) may be attributed to sub-microscopic translocations as well as to the presence of non-neoplastic cells undergoing mitosis in the samples examined for karyotype.
|Titolo:||PML/RAR-alpha rearrangement in acute promyelocytic leukaemias apparently lacking the t(15;17) translocation|
|Parole Chiave:||Chromosomes, Human, Pair 17; Blotting, Northern; Chromosomes, Human, Pair 15; Carrier Proteins; Humans; Gene Rearrangement; Translocation, Genetic; Tumor Suppressor Proteins; Child, Preschool; Bone Marrow; Receptors, Retinoic Acid; Neoplasm Proteins; Transcription Factors; Nuclear Proteins; Blotting, Southern; Adult; Leukemia, Promyelocytic, Acute; Middle Aged; Adolescent; Immunophenotyping; Male; Female|
|Settore Scientifico Disciplinare:||Settore MED/04 - Patologia Generale|
|Data di pubblicazione:||mar-1992|
|Digital Object Identifier (DOI):||10.1111/j.1600-0609.1992.tb00592.x|
|Appare nelle tipologie:||01 - Articolo su periodico|