Chromosomal Abnormality Karyotype Analysis In The Mds And Mm Cytogenetic Detection Methods

Objectives 1.To analyze clonal chromosomal abnormalities of patients with myelodysplastic syndrome(MDS) and evaluate prognosis combining with complete blood counts and blast counts.2.To evaluate the effect of modified cell culture(Long term culture and increasing the final concentration of colcemid) on detection of abnormal karyotype in the patients with multiple myeloma(MM).To explore the value of conventional cytogenetic technique(CC),modified cell culture and fluorescence in situ hybridization(FISH) in detection of chromosomal and genomic aberrations of multiple myeloma.Methods 1.The chromosomes were prepared with brief culture of cells and R-banding techniques,and then the karyotypic analysis was performed.2.RHG banding were used to evaluate the efficiency of modified culture method on abnormal karyotype detection in 27 M M patients.The probes[1q21,13q14(RB1),14q32(IGHC/IGHVgene)] were used to perform FISH in the detection of chromosomal and genomic aberrations of multiple myeloma.Results 1.Abnormal chromosomes were detected 44.9%,including the numeral abnormalities of chromosomes and structural alterations.The most common chromosomal aberrations were -7,+ 8.The rate of abnormal karotype in refractory anemia with erythroblasts(RAEB1 and RAEB2) was much higher than in refractory anemia(RA) and refractory anemia with ringed sideroblasts(RARS).2.27 cases were evaluable by RHG-banding,culture method had effect on the cytogenetic detection.The rate of abnormal chromosomes were 18.5%by CC.After modified cell culture, abnormal karyotype were detected in 7 cases(25.9%).There was not statistical significant difference between CC and modified cell culture(P>0.05).3.Abnormal chromosomes were detected 12/18(66.7%) using FISH.Panel FISH disclosed 1q21 amplification in 4(22.2%),del(13q) in 5(27.8%),14q32 rearrangement in 8(44.4%). There was statistical significant difference between FISH and other methods.(P<0.05).Conclusions 1.The most common chromosomal aberrations were the numeral abnormalities of chromosomes,such as -7,+ 8.The rate of abnormal karotype in refractory anemia with erythroblasts(RAEB1 and RAEB2) was much higher than in refractory anemia(RA) and refractory anemia with ringed sideroblasts(RARS). Karyotype analysis was very useful for the diagnosis,treatment and prognosis evaluation in MDS.2.Modified cell culture had effect on the rate of chromosomal aberrations in MM,complex karyotype were common changes in the patients with MM. 3.FISH could siginificantly improve the detection rate of chromosomal aberrations in MM.14q32 rearrangement and del(13q) were the most abnormality.