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Rearrangements of the RAR‐α gene in acute promyelocytic leukaemia:
Author(s) -
Coco Francesco Lo,
Avvisati Giuseppe,
Diverio Daniela,
Biondi Andrea,
Pandolfi Pier Paolo,
Alcalay Myriam,
Rossi Giulio De,
Petti Maria C.,
CantùRajnoldi Angelo,
Pasqualetti Daniela,
Nanni Mauro,
Fenu Susanna,
Frontani Marina,
Mandelli Franco
Publication year - 1991
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1991.tb04478.x
Subject(s) - locus (genetics) , acute promyelocytic leukemia , myeloid , negativity effect , gene , biology , cancer research , medicine , genetics , psychology , social psychology , retinoic acid
Summary We have used genomic probes which specifically recognize DNA rearrangements of the RAR‐α locus on chromosome 17q21 in patients with acute promyelocytic leukaemia (APL) and acute myeloid leukaemia (AML) subtypes. Molecular data were examined in comparison with morphological and immunophenotypic characterization at diagnosis in 20 hypergranular FAB M3 cases, five microgranular APL (M3v), 51 non‐M3 AML and 12 myeloid CML blast crises. Rearrangements of the RAR‐α locus were only detected in 23/25 APL cases and in none of the other FAB subtypes analysed. Surface marker characterization showed a consistent immunophenotypic profile—HLADR negative. CD9 and CD13/33 positive—in all M3 and M3v cases. Neither HLADR negativity nor CD9 positivity were associated with RAR‐α rearrangements in non M3 AML. Our data indicate that RAR‐α gene rearrangements are relevant diagnostic features of both M3 and M3v, and may prove useful molecular marker for follow‐up analysis in APL patients.

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