[Chromosomal abnormalities in 38 CML cases of various phases].
OBJECTIVE
To study the genomic abnormality underlying the blast crisis of chronic myeloid leukemia(CML).


METHODS
15 CML patients in blast crisis (BC), 3 in accelerated phase (AP) and 20 in chronic phase (CP) were analyzed by conventional cytogentics, comparative genomic hybridization (CGH) and dual color chromosomal painting.


RESULTS
Philadelphia (Ph) chromosome was identified in every case studied. Only 5 among 20 CP patients had additional abnormalities while 12 out of 14 patients with disease progression (BC + AP) showed extra numerical and/or structural chromosmal aberrations. Cytogenetically, the most common chromosome gains during BC and AP were double or triple Ph chromosome(5/14), trisomy 8(5/14), trisomy 7(1/14) and 17 (1/14). Three cases showed the same region being involved in translocations t(1;17)(q12-21;q10), t(1;10) (q12-21;q26) and t(1;11)(q12-21;p15). CGH analysis detected genetic imbalances in 8 cases. In one case, a very complex chromosmal translocation del(3), del(6)(q13-21), der(6)t(17;3;6), der(17)t(6;17) was characterized by chromosomal painting.


CONCLUSIONS
We find that the combined use of CGH, chromosomal 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 investigation.
Su
X Y
XY
Shanghai Institute of Hematology, Rui-Jin Hospital, Shanghai 200025.
Cao
Q
Q
He
K L
KL
D000328:Adult; D000368:Aged; D001752:Blast Crisis / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D014178:Translocation, Genetic; D014314:Trisomy