[Analysis of complex chromosomal aberrations in patients with myelodysplastic syndromes using multiplex fluorescence in situ hybridization combined with whole chromosome painting].
OBJECTIVE
To explore the value of multiplex fluorescence in situ hybridization (M-FISH) in combination with whole chromosome painting (WCP) in the detection of complex chromosomal aberrations (CCAs) in myelodysplastic syndromes (MDS).


METHODS
M-FISH was used in seven MDS patients with R-banding CCAs to refine the complex chromosomal rearrangements, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH.


RESULTS
M-FISH confirmed all results of R-banding. The composition and origin of 6 kinds of marker chromosomes, 9 kinds of chromosomes with additional material undetermined and 5 kinds of derivative chromosomes undefined by conventional cytogenetics (CC) were defined after M-FISH analysis; four kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations: aberrations involving chromosome 17 and -5/5q- were the two most frequent aberrations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP.


CONCLUSIONS
M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP helps us to identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques, such as M-FISH and WCP, can unravel complex chromosomal aberrations more precisely.
Chen
Li-juan
LJ
Deartment of Hematology, the First Affiliated Hospital, Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu, 210029 PR China.
Li
Jian-yong
JY
Xiao
Bing
B
Zhu
Yu
Y
Liu
Qiong
Q
Pan
Jin-lan
JL
Qiu
Hai-rong
HR
Fan
Lei
L
Zhang
Su-jiang
SJ
Lu
Rui-nan
RN
Xu
Wei
W
Xue
Yong-quan
YQ
D000293:Adolescent; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods; D020223:Chromosome Painting / Q000379:methods*; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping / Q000379:methods; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D055815:Young Adult