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PML/RAR‐α rearrangement in acute promyelocytic leukaemias apparently lacking the t(15;17) translocation
Author(s) -
Coco Francesco Lo,
Diverio Daniela,
D'Adamo Francesca,
Avvisati Giuseppe,
Alimena Giuliana,
Nanni Mauro,
Alcalay Myriam,
Pandolfi Pier Paolo,
Pelicci Pier Giuseppe
Publication year - 1992
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1992.tb00592.x
Subject(s) - chromosomal translocation , acute promyelocytic leukemia , biology , karyotype , cytogenetics , breakpoint , promyelocytic leukemia protein , mitosis , pathogenesis , southern blot , chromosomal rearrangement , gene rearrangement , cancer research , dna , microbiology and biotechnology , genetics , chromosome , immunology , gene , retinoic acid
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‐α 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‐α loci. Moreover, in 4 cases also analysed by Northern blot hybridization, we could detect aberrant RAR‐α transcripts. These findings highlight the specificity of PML/RAR‐α 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.