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 TypeDr GradeEmail
جودة المغربيAl-Maghrabi, Jaudah ResearcherDoctorate 

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