PMID- 19737651
OWN - NLM
STAT- MEDLINE
DCOM- 20090925
LR  - 20131121
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 194
IP  - 1
DP  - 2009 Oct
TI  - Molecular cytogenetic characterization of variant Philadelphia translocations in 
      chronic myeloid leukemia: genesis and deletion of derivative chromosome 9.
PG  - 30-7
LID - 10.1016/j.cancergencyto.2009.05.010 [doi]
AB  - The mechanisms for the formation of variant Philadelphia (Ph) translocations that 
      occur in 5-10% of patients with chronic myeloid leukemia (CML) are not fully 
      characterized. Studies on the prognosis of these variant translocations have 
      yielded conflicting results, especially regarding imatinib outcome and the status 
      of deletions on the derivative chromosome 9. To shed light on these controversial 
      subjects, we sought to analyze all variant translocation cases presented at 
      diagnosis and identified in our institution between the years 2001 and 2008. Of 
      336 CML patients who presented at diagnosis and were studied by conventional 
      cytogenetics and fluorescence in situ hybridization (FISH), 25 patients (7.44%) 
      exhibited variant Ph-rearrangements. All chromosomes could be implicated in 
      variant Ph rearrangements, with 32 breakpoints defined. Their distribution was 
      located preferentially in the CG-richest regions of the genome. Deletions on 
      der(9) were observed in 15 of the 25 cases (60%), a greater proportion in typical 
      Ph translocations (12-15%). Both one- and two-step mechanisms were encountered in 
      our series, as well as multiple-step mechanisms, which originate more complex 
      rearrangements. Higher prevalence was observed for the two-step mechanism (56%). 
      Proper assessment of the prognostic significance of variant translocations 
      requires better categorization of these translocations based on their mechanisms 
      of genesis and 9q34 deletion status.
FAU - Bennour, Ayda
AU  - Bennour A
AD  - Cytogenetics Division, Department of Cytogenetics, Molecular Genetics, and 
      Biology of Reproduction, Farhat Hached Hospital, Sousse 4000, Tunisia. 
      aydabennour@yahoo.fr
FAU - Sennana, Halima
AU  - Sennana H
FAU - Laatiri, Mohamed Adnene
AU  - Laatiri MA
FAU - Elloumi, Moez
AU  - Elloumi M
FAU - Khelif, Abderrahim
AU  - Khelif A
FAU - Saad, Ali
AU  - Saad A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Fusion Proteins, bcr-abl/genetics
MH  - Genetic Variation
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics/pathology
MH  - Male
MH  - *Philadelphia Chromosome
MH  - Translocation, Genetic/*genetics
EDAT- 2009/09/10 06:00
MHDA- 2009/09/26 06:00
CRDT- 2009/09/10 06:00
PHST- 2009/03/05 00:00 [received]
PHST- 2009/05/02 00:00 [revised]
PHST- 2009/05/24 00:00 [accepted]
PHST- 2009/09/10 06:00 [entrez]
PHST- 2009/09/10 06:00 [pubmed]
PHST- 2009/09/26 06:00 [medline]
AID - S0165-4608(09)00290-8 [pii]
AID - 10.1016/j.cancergencyto.2009.05.010 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2009 Oct;194(1):30-7. doi: 
      10.1016/j.cancergencyto.2009.05.010.