A novel BCR-ABL transcript e2a2 in a chronic myelogenous leukaemia patient with a duplicated Ph-chromosome and monosomy 7

Details

Serval ID
serval:BIB_6CC147268A3C
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A novel BCR-ABL transcript e2a2 in a chronic myelogenous leukaemia patient with a duplicated Ph-chromosome and monosomy 7
Journal
British Journal of Haematology
Author(s)
Leibundgut  E. O., Jotterand  M., Rigamonti  V., Parlier  V., Muhlematter  D., Tobler  A., Solenthaler  M.
ISSN
0007-1048 (Print)
Publication state
Published
Issued date
09/1999
Volume
106
Number
4
Pages
1041-4
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep
Abstract
A novel BCR-ABL transcript was detected by multiplex RT-PCR in a patient with Philadelphia chromosome (Ph) positive chronic myelogenous leukaemia (CML) in accelerated phase. Sequencing of the aberrant transcript revealed an in-frame e2a2 fusion that included a 9 basepairs insertion. Cytogenetic analysis showed t(9;22), an additional Ph chromosome and monosomy 7. The clinical course was dismal: therapy was poorly tolerated, and the patient died in blast crisis 10 months after diagnosis. These data support the association of additional Ph and monosomy 7 with poor prognosis and suggest that the novel e2a2 BCR-ABL transcript may be related to an aggressive clinical course.
Keywords
Aged Chromosome Aberrations/*genetics Chromosomes, Human, Pair 22/*genetics Chromosomes, Human, Pair 7/*genetics Fatal Outcome Female Fusion Proteins, bcr-abl/*genetics Humans Karyotyping Leukemia, Myeloid, Philadelphia-Positive/*genetics Monosomy/genetics Translocation, Genetic
Pubmed
Web of science
Create date
25/01/2008 15:18
Last modification date
20/08/2019 15:26
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