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Rearrangements in the second intron of the RARA gene are present in a large
majority of patients with acute promyelocytic leukemia and are used as
molecular marker for retinoic acid-induced leukemic cell differentiation
SJ Chen, YJ Zhu, JH Tong, S Dong, W Huang, Y Chen, WM Xiang, L Zhang, XS Li and GQ Qian
Laboratory of Molecular Biology, Rui-Jin Hospital, Shanghai, China.
Chromosome 17 breakpoints in translocation t(15;17), a hallmark for acute
promyelocytic leukemia (APL), have been shown to disrupt the retinoic acid
receptor-alpha (RARA) gene. In this study, DNA probes around the second
exon of the RARA gene showed rearrangements not previously detected.
Analysis of 25 Chinese APL cases showed that RARA gene rearrangements were
present in 23 cases (92%). The breakpoints were mapped unequivocally in 22
cases within the second intron of the gene. Therefore, the RARA gene
rearrangement provides us with a specific marker of the disease.
Simultaneous molecular and cytologic studies showed that the RARA gene
rearrangements persisted during the first 2 to 3 weeks of all-trans
retinoic acid (ATRA) therapy when differentiated granulocytes predominated
in bone marrow, while these rearrangements disappeared after achieving
complete remission. These data indicate that ATRA induces differentiation
of APL cells.
Volume 78,
Issue 10,
pp. 2696-2701,
11/15/1991
Copyright © 1991 by The American Society of Hematology
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