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

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 o...

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Veröffentlicht in:Blood 1991-11, Vol.78 (10), p.2696-2701
Hauptverfasser: SAI-JUAN CHEN, YUE-JUN ZHU, ZHEN-YI WANG, SHU CHEN, LARSEN, C.-J, BERGER, R, JIAN-HUA TONG, SHUO DONG, WEI HUANG, YING CHEN, WEI-MIN XIANG, LEI ZHANG, XIU-SONG LI, GUAN-QIANG QIAN
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container_end_page 2701
container_issue 10
container_start_page 2696
container_title Blood
container_volume 78
creator SAI-JUAN CHEN
YUE-JUN ZHU
ZHEN-YI WANG
SHU CHEN
LARSEN, C.-J
BERGER, R
JIAN-HUA TONG
SHUO DONG
WEI HUANG
YING CHEN
WEI-MIN XIANG
LEI ZHANG
XIU-SONG LI
GUAN-QIANG QIAN
description 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.
doi_str_mv 10.1182/blood.V78.10.2696.2696
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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. 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source MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection
subjects Adolescent
Adult
Biological and medical sciences
Bone Marrow - pathology
Carrier Proteins - genetics
Cell Differentiation - drug effects
Cells, Cultured
Child
Chromosome Banding
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 17
Female
Gene Rearrangement
Genetic Markers
Hematologic and hematopoietic diseases
Humans
Introns
Leukemia, Promyelocytic, Acute - genetics
Leukemia, Promyelocytic, Acute - pathology
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Middle Aged
Receptors, Retinoic Acid
Restriction Mapping
Translocation, Genetic
Tretinoin - metabolism
Tretinoin - pharmacology
title 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
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