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RARA and PML gene rearrangements in acute promyelocytic leukemia with complex translocations and atypical features

RARA and PML gene rearrangements in acute promyelocytic leukemia with complex translocations and... The translocation t(15;17) associated with acute promyelocytic leukemia (APL) results in fusion of the retinoic acid receptor alpha (RARA) gene on chromosome 17 with the putative transcription factor gene, PML, on chromosome 15. We report three cases of APL with complex cytogenetic translocations and five cases with atypical phenotypic features with rearrangements within or adjacent to the second intron of the RARA gene. Two patients demonstrated three‐way translocations involving chromosomes 3, 15, and 17, but with differing breakpoints on the short arm of chromosome 3. A third patient developed a complex karyotype at the time of third relapse, but with no change in RARA and PML gene rearrangement pattern. Three patients had normal karyotypes; however, only small numbers of cells could be analyzed. One patient's leukemic cells expressed the T‐cell‐associated antigen CD2 and revealed T‐cell receptor β and γ gene rearrangements. The localization of breakpoints to the second intron of the RARA gene in cytogenetically and phenotypically atypical cases provides additional support for a requisite role of the PML/RARA fusion gene in the pathogenesis of APL. Genes Chrom Cancer 9:49‐56 (1994). © 1994 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Genes, Chromosomes and Cancer Wiley

RARA and PML gene rearrangements in acute promyelocytic leukemia with complex translocations and atypical features

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References (30)

Publisher
Wiley
Copyright
Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company
ISSN
1045-2257
eISSN
1098-2264
DOI
10.1002/gcc.2870090109
Publisher site
See Article on Publisher Site

Abstract

The translocation t(15;17) associated with acute promyelocytic leukemia (APL) results in fusion of the retinoic acid receptor alpha (RARA) gene on chromosome 17 with the putative transcription factor gene, PML, on chromosome 15. We report three cases of APL with complex cytogenetic translocations and five cases with atypical phenotypic features with rearrangements within or adjacent to the second intron of the RARA gene. Two patients demonstrated three‐way translocations involving chromosomes 3, 15, and 17, but with differing breakpoints on the short arm of chromosome 3. A third patient developed a complex karyotype at the time of third relapse, but with no change in RARA and PML gene rearrangement pattern. Three patients had normal karyotypes; however, only small numbers of cells could be analyzed. One patient's leukemic cells expressed the T‐cell‐associated antigen CD2 and revealed T‐cell receptor β and γ gene rearrangements. The localization of breakpoints to the second intron of the RARA gene in cytogenetically and phenotypically atypical cases provides additional support for a requisite role of the PML/RARA fusion gene in the pathogenesis of APL. Genes Chrom Cancer 9:49‐56 (1994). © 1994 Wiley‐Liss, Inc.

Journal

Genes, Chromosomes and CancerWiley

Published: Jan 1, 1994

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