PMID- 7512367
OWN - NLM
STAT- MEDLINE
DCOM- 19940513
LR  - 20191023
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 8
IP  - 4
DP  - 1993 Dec
TI  - Translocation of BCR to chromosome 9: a new cytogenetic variant detected by FISH 
      in two Ph-negative, BCR-positive patients with chronic myeloid leukemia.
PG  - 237-45
AB  - Leukemic cells from two patients with Philadelphia-negative chronic myeloid 
      leukemia (CML) were investigated: 1) Cytogenetics showed a normal 46,XY karyotype 
      in both cases, 2) molecular studies revealed rearrangement of the M-BCR region 
      and formation of BCR-ABL fusion mRNA with b2a2 (patient 1) or b3a2 (patient 2) 
      configuration, and 3) fluorescence in situ hybridization (FISH) demonstrated 
      relocation of the 5' BCR sequences from one chromosome 22 to one chromosome 9. 
      The ABL probe hybridized to both chromosomes 9 at band q34, while two other 
      probes which map centromeric and telomeric of BCR on 22q11 hybridized solely with 
      chromosome 22. For the first time, a BCR-ABL rearrangement is shown to take place 
      on 9q34 instead of in the usual location on 22q11. A rearrangement in the latter 
      site is found in all Ph-positive CML and in almost all investigated CML with 
      variant Ph or Ph-negative, BCR-positive cases. The few aberrant chromosomal 
      localizations of BCR-ABL recombinant genes found previously were apparently the 
      result of complex and successive changes. Furthermore in patient 2, both 
      chromosomes 9 showed positive FISH signals with both ABL and BCR probes. 
      Restriction fragment length polymorphism (RFLP) analysis indicated that mitotic 
      recombination had occurred on the long arm of chromosome 9 and that the 
      rearranged chromosome 9 was of paternal origin. The leukemic cells of this 
      patient showed a duplication of the BCR-ABL gene, analogous to duplication of the 
      Ph chromosome in classic CML. In addition they had lost the maternal alleles of 
      the 9q34 chromosomal region.(ABSTRACT TRUNCATED AT 250 WORDS)
FAU - Hagemeijer, A
AU  - Hagemeijer A
AD  - Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The 
      Netherlands.
FAU - Buijs, A
AU  - Buijs A
FAU - Smit, E
AU  - Smit E
FAU - Janssen, B
AU  - Janssen B
FAU - Creemers, G J
AU  - Creemers GJ
FAU - Van der Plas, D
AU  - Van der Plas D
FAU - Grosveld, G
AU  - Grosveld G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
GS  - ABL
GS  - BCR-ABL
GS  - CR
MH  - Adult
MH  - Blotting, Southern
MH  - Chromosomes, Human, Pair 22/ultrastructure
MH  - Chromosomes, Human, Pair 9/*ultrastructure
MH  - Fatal Outcome
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/pathology
MH  - Male
MH  - Middle Aged
MH  - Mitosis
MH  - *Oncogenes
MH  - Polymorphism, Restriction Fragment Length
MH  - Recombination, Genetic
MH  - *Translocation, Genetic
EDAT- 1993/12/01 00:00
MHDA- 1993/12/01 00:01
CRDT- 1993/12/01 00:00
PHST- 1993/12/01 00:00 [pubmed]
PHST- 1993/12/01 00:01 [medline]
PHST- 1993/12/01 00:00 [entrez]
AID - 10.1002/gcc.2870080406 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1993 Dec;8(4):237-45. doi: 10.1002/gcc.2870080406.