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Document Details
Document Type
:
Article In Journal
Document Title
:
Lack of BCR/ABL reciprocal fusion in variant Philadelphia chromosome translocations: a use of double fusion signal FISH and spectral karyotyping.
Lack of BCR/ABL reciprocal fusion in variant Philadelphia chromosome translocations: a use of double fusion signal FISH and spectral karyotyping.
Document Language
:
English
Abstract
:
Of all Philadelphia (Ph) producing translocations in CML 5-10% are variant Ph translocations. It is unclear whether they occur subsequent to the classic t(9;22), or occur de novo. The molecular consequences of Ph translocations in CML result in a p210, p190 or a p230 BCR/ABL fusion gene (M-bcr, m-bcr or µ-bcr). The molecular breakpoints in the classic and variant Ph translocations cluster to the same molecular regions. Using G-banding, spectral karyotyping (SKY) and double fusion signal fluorescence in situ hybridization (D-FISH) on metaphases from ten variant Ph translocations, the chromosomal location of the BCR and ABL genes was investigated. All patients had the M-bcr breakpoint: nine had a translocation, one had a translocation and an associated insertion of the BCR/ABL fusion signal into the derivative 9. For the nine patients with a BCR/ABL fusion gene on the derivative 22 the reciprocal ABL and BCR signals were either retained on separate chromosomes, or were deleted from the karyotype. The overall duration of chronic phase was slightly shorter (31.2 months) than expected for standard CML. This study provides a more comprehensive description of the molecular events leading to BCR/ABL fusion and has implications for service laboratories utilizing interphase FISH analysis in CML without confirmatory cytogenetic analysis.
ISSN
:
10865986
Journal Name
:
Leukemia
Volume
:
14
Issue Number
:
6
Publishing Year
:
2000 AH
2000 AD
Article Type
:
Article
Added Date
:
Monday, April 12, 2010
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
جودة المغربي
Al-Maghrabi, Jaudah
Researcher
Doctorate
Files
File Name
Type
Description
26445.doc
doc
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