PMID- 16337861
OWN - NLM
STAT- MEDLINE
DCOM- 20060131
LR  - 20131121
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 163
IP  - 2
DP  - 2005 Dec
TI  - BCR/ABL rearrangement in two cases of Philadelphia chromosome negative chronic 
      myeloid leukemia: deletion on the derivative chromosome 9 may or not be present.
PG  - 164-7
AB  - The BCR/ABL gene rearrangement is the causing factor in chronic myeloid leukemia 
      (CML). In most cases, it is cytogenetically visualized as a translocation between 
      chromosomes 9 and 22, known as the Philadelphia (Ph) translocation. About 5-10% 
      of CML patients lack cytogenetic evidence of the Ph translocation but show 
      BCR/ABL fusion by fluorescence in situ hybridization (FISH) or reverse 
      transcriptase-polymerase chain reaction. Deletions around the breakpoints on the 
      derivative 9 including ABL and or BCR sequences occur in 10-15% of Ph+ CML 
      patients and are thought to have prognostic significance. We describe two 
      patients with CML and normal karyotype in whom cryptic rearrangements involving 
      chromosomes 9 and 22 resulted in the causative BCR/ABL gene. FISH with a 
      three-color probe combination revealed BCR/ABL fusion on chromosome 9 without 
      deletion in one patient; the other patient had BCR/ABL on chromosome 22 with an 
      associated derivative 9 deletion. We discuss the proposed mechanisms in the 
      formation of BCR/ABL in the setting of a normal karyotype. Some authors reported 
      that patients with the chimeric gene located on the derivative 9 have a poor 
      clinical course. We suggest that deletion rather than location of the chimeric 
      gene alone is more likely to be associated with prognosis.
FAU - Batista, Denise A S
AU  - Batista DA
AD  - Department of Pathology, Division of Molecular Pathology, Johns Hopkins 
      University, 600 North Wolfe Street, Park SB 202, Baltimore, MD 21287, USA. 
      dbatist1@jhmi.edu
FAU - Hawkins, Anita
AU  - Hawkins A
FAU - Murphy, Kathleen M
AU  - Murphy KM
FAU - Griffin, Constance A
AU  - Griffin CA
LA  - eng
PT  - Case Reports
PT  - Journal Article
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  - Adult
MH  - Chromosomes, Human, Pair 22
MH  - *Chromosomes, Human, Pair 9
MH  - Female
MH  - Fusion Proteins, bcr-abl/*genetics
MH  - *Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/*genetics
MH  - Middle Aged
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - *Sequence Deletion
EDAT- 2005/12/13 09:00
MHDA- 2006/02/01 09:00
CRDT- 2005/12/13 09:00
PHST- 2005/03/24 00:00 [received]
PHST- 2005/04/27 00:00 [accepted]
PHST- 2005/12/13 09:00 [pubmed]
PHST- 2006/02/01 09:00 [medline]
PHST- 2005/12/13 09:00 [entrez]
AID - S0165-4608(05)00239-6 [pii]
AID - 10.1016/j.cancergencyto.2005.04.021 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2005 Dec;163(2):164-7. doi: 
      10.1016/j.cancergencyto.2005.04.021.