RAR-alpha gene rearrangements as a genetic marker for diagnosis and monitoring in acute promyelocytic leukemia

Acute promyelocytic leukemias (APLs) are characterized by a translocation that involves chromosomes 15 and 17. The translocation breakpoints have recently been identified and shown to involve the RAR- alpha gene on 17 and myl on 15. Here we report Southern blotting analysis of 26 APLs, including cas...

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Bibliographic Details
Published inBlood Vol. 77; no. 7; pp. 1418 - 1422
Main Authors Biondi, A, Rambaldi, A, Alcalay, M, Pandolfi, PP, Lo Coco, F, Diverio, D, Rossi, V, Mencarelli, A, Longo, L, Zangrilli, D
Format Journal Article
LanguageEnglish
Published 01.04.1991
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Summary:Acute promyelocytic leukemias (APLs) are characterized by a translocation that involves chromosomes 15 and 17. The translocation breakpoints have recently been identified and shown to involve the RAR- alpha gene on 17 and myl on 15. Here we report Southern blotting analysis of 26 APLs, including cases with normal karyotypes and atypical morphology, which showed RAR-alpha rearrangements in 92% cases, myl rearrangements in 73%, and either RAR-alpha or myl rearrangements in 100%. Despite a negative clinical and morphologic picture, DNA rearrangement analysis showed that neoplastic promyelocytes persisted in the bone marrow of two patients sampled after induction chemotherapy. Therefore, the RAR-alpha and myl rearrangements provide molecular markers for accurately diagnosing APLs and monitoring the course of the disease during and after chemotherapy.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V77.7.1418.bloodjournal7771418