26445.doc

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Step 1
Lack of BCR/ABL reciprocal fusion in variant
Philadelphia chromosome translocations: a use of
double fusion signal FISH and spectral karyotyping.
‫عنوان الوثيقة‬
Document (
)Title
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.
‫المستخلص‬
)Abstract(
PMID: 10865986 [PubMed - indexed for MEDLINE]
Leukemia.
)ISSN( ‫ردمد‬
‫اسم الدورية‬
)Journal Name(
14
)Volume( ‫المجلد‬
6
‫العدد‬
)Issue Number(
2000 Jun
1157-60
‫سنة النشر‬
Publishing (
)Year
‫الصفحات‬
)Pages(
Step 2
Jaudah
Al-Maghrabi
‫االسم األول للباحث‬
First name of the
researcher
‫االسم األخير للباحث‬
Last name of the
researcher
Department of Pathology, King Abdul-Aziz University Hospital, Jeddah,
Kingdom of Saudi Arabia.
jalmaghrabi@hotmail.com
‫العنوان‬
)Address)
‫االيميل‬
) E-mail (
Step3
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