PMID- 9973917
OWN - NLM
STAT- MEDLINE
DCOM- 19990225
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 108
IP  - 1
DP  - 1999 Jan 1
TI  - Chromosomal aberrations during progression of chronic myeloid leukemia identified 
      by cytogenetic and molecular cytogenetic tools: implication of 1q12-21.
PG  - 6-12
AB  - To study the genomic abnormality underlying the acute transformation of chronic 
      myeloid leukemia (CML), 15 CML patients in blast crisis (BC), 3 in accelerated 
      phase (AP), and 20 in chronic phase (CP) were analyzed by conventional 
      cytogenetics, comparative genomic hybridization (CGH), and dual-color chromosomal 
      painting. Philadelphia (Ph) chromosome was identified in every case studied. Only 
      5 among 20 CP patients had additional abnormalities while 13 of 18 patients with 
      disease progression (BC + AP) showed extra numerical and/or structural 
      chromosomal aberrations. Cytogenetically, the most common chromosome gains during 
      BC and AP were double or triple Ph chromosomes (5 of 14 cases) and trisomy 8 (5 
      of 14 cases). Trisomies 7 and 17 (1 of 14 cases each) were also observed. CGH 
      analysis detected genetic imbalances in eight cases. Gains of chromosome 20 (3 
      cases) and 17q (2 cases) were observed, respectively. The recurrent chromosome 
      loss was the deletion of the short arm of chromosome 17, seen in one case with 
      i(17)(q10) and one case with an unbalanced translocation (1;17). In one case, a 
      very complex chromosomal rearrangement, 
      del(3),del(6),der(6)t(17;3;6),der(17)t(6;17), was seen. A novel finding of this 
      work is the involvement of chromosome 1(q12-21qter) in CML disease progression. 
      Overrepresentation of 1(q12-21qter) region was detected by CGH in one case which 
      had a derivative chromosome 17. This abnormal chromosome was later confirmed by 
      fluorescence in situ hybridization (FISH) painting to be a fusion between 
      chromosome 1 and 17 to form the der(17)t(1;17) (q12-21;p11). Two other cases 
      showed the same region being involved in translocations, t(1;10)(q12-21;q26) and 
      t(1;11)(q12-21;p15). It is possible that one or more genes residing on chromosome 
      1q12-21 may be important in the acute transformation of CML. In conclusion, we 
      find that the combined use of CGH, chromosome painting, and classic cytogenetic 
      analysis allows a better evaluation of the genomic aberration involved in CML 
      blastic transformation, and offers new directions for its further molecular 
      investigations.
FAU - Su, X Y
AU  - Su XY
AD  - Shanghai Institute of Hematology, Rui-Jin Hospital, Shanghai Second Medical 
      University, China.
FAU - Wong, N
AU  - Wong N
FAU - Cao, Q
AU  - Cao Q
FAU - Yu, L Z
AU  - Yu LZ
FAU - Niu, C
AU  - Niu C
FAU - Wickham, N
AU  - Wickham N
FAU - Johnson, P J
AU  - Johnson PJ
FAU - Chen, Z
AU  - Chen Z
FAU - Chen, S J
AU  - Chen SJ
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
SB  - IM
MH  - Adult
MH  - Blast Crisis
MH  - Bone Marrow/pathology
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 1
MH  - Disease Progression
MH  - Female
MH  - Gene Amplification
MH  - Humans
MH  - Karyotyping
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL 
      Positive/*genetics/pathology/physiopathology
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - *Philadelphia Chromosome
EDAT- 1999/02/12 00:00
MHDA- 1999/02/12 00:01
CRDT- 1999/02/12 00:00
PHST- 1999/02/12 00:00 [pubmed]
PHST- 1999/02/12 00:01 [medline]
PHST- 1999/02/12 00:00 [entrez]
AID - S0165460898001204 [pii]
AID - 10.1016/s0165-4608(98)00120-4 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 1999 Jan 1;108(1):6-12. doi: 
      10.1016/s0165-4608(98)00120-4.