An analysis of complex chromosomal aberrations in seven cases of myelodysplastic syndromes by M-FISH and whole chromosome painting.
Complex chromosomal aberrations (CCAs) can be detected in a substantial proportion of myelodysplastic syndrome (MDS). Comprehensive analysis of the chromosomal rearrangements in these CCAs has been hampered by the limitations of conventional cytogenetics (CC). Multiplex fluorescence in situ hybridization (M-FISH) is a new generation FISH technique which allows simultaneous identification of all the 24 human chromosomes. So it is very useful in clarifying CCAs, identifying cryptic interchromosomal rearrangements and characterizing marker chromosomes. But it also has some limitations. We used M-FISH and whole chromosome painting (WCP) to accurately refine the CCAs revealed by R-banding CC in seven cases with MDS. The composition and origin of 6 kinds of marker chromosomes, nine kinds of chromosomes with additional material undetermined and five kinds of derivative chromosomes undefined by 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 which most frequently involved chromosome 17 (5/7) and -5/5q-(4/7). Fluorescence flaring is a main factor leading to misinterpretations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP. M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP can further identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques including M-FISH and WCP can more precisely unravel CCAs.
Li
Jian-Yong
JY
Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, 210029, Nanjing, China. lijianyonglm@medmail.com.cn.
Xiao
Bing
B
Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, 210029, Nanjing, China.
Chen
Li-Juan
LJ
Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, 210029, Nanjing, China.
Pan
Jin-Lan
JL
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, 215006, Suzhou, Jiangsu, China.
Xu
Wei
W
Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, 210029, Nanjing, China.
Qiu
Hai-Rong
HR
Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, 210029, Nanjing, China.
Li
Li
L
Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, 210029, Nanjing, China.
Xue
Yong-Quan
YQ
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, 215006, Suzhou, Jiangsu, China.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D020223:Chromosome Painting / Q000379:methods*; D002877:Chromosomes, Human / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D012680:Sensitivity and Specificity