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.

LO COCO, F., Diverio, D., D'Adamo, F., Avvisati, G., Alimena, G., Nanni, M., et al. (1992). PML/RAR-alpha rearrangement in acute promyelocytic leukaemias apparently lacking the t(15;17) translocation. EUROPEAN JOURNAL OF HAEMATOLOGY, 48(3), 173-176.

PML/RAR-alpha rearrangement in acute promyelocytic leukaemias apparently lacking the t(15;17) translocation

LO COCO, FRANCESCO;
1992-03-01

Abstract

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.
mar-1992
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - MALATTIE DEL SANGUE
English
Adolescent; Adult; Blotting, Northern; Blotting, Southern; Bone Marrow; Carrier Proteins; Child, Preschool; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 17; Female; Humans; Immunophenotyping; Leukemia, Promyelocytic, Acute; Male; Middle Aged; Neoplasm Proteins; Receptors, Retinoic Acid; Transcription Factors; Tumor Suppressor Proteins; Gene Rearrangement; Nuclear Proteins; Translocation, Genetic
LO COCO, F., Diverio, D., D'Adamo, F., Avvisati, G., Alimena, G., Nanni, M., et al. (1992). PML/RAR-alpha rearrangement in acute promyelocytic leukaemias apparently lacking the t(15;17) translocation. EUROPEAN JOURNAL OF HAEMATOLOGY, 48(3), 173-176.
LO COCO, F; Diverio, D; D'Adamo, F; Avvisati, G; Alimena, G; Nanni, M; Alcalay, M; Pandolfi, P; Pelicci, P
Articolo su rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/161051
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