FISH技术联合常规细胞遗传学检测MDS的染色体异常

Detecting chromosomal aberrations in myelodysplastic syndrome with fluorescence in situ hybridization and conventional cytogenetic analysis

目的:探讨荧光原位杂交(FISH)技术联合常规细胞遗传学检测骨髓增生异常综合征(MDS)患者染色体异常的临床价值。方法:运用FISH技术联合常规细胞遗传学检测100例经骨髓常规涂片及骨髓活检确诊的MDS患者的染色体异常情况,并对此100例患者进行随访。结果:100例MDS患者中FISH检测出48例有染色体异常,总异常检出率为48%,其中-5/5q-检出率最高,为16%,其余异常阳性检出率依次为20q-(15%),+8(12%),-7/7q-(11%),-Y(5%)。而常规细胞遗传学分析异常检出率仅为11%。FISH检测MDS分子遗传学异常阳性率明显高于常规染色体分析(P<0.01),且两者结合可将检出率提高至49%。随访结果显示FISH结果正常的患者预后明显好于FISH结果异常的患者,其中存在-7/7q-的患者预后最差,转白血病率明显高于其他染色体异常者。而存在20q-及+8的患者预后中等,存在-5/5q,-Y及正常核型的患者预后较好。结论:49%的MDS患者存在染色体异常,-5/5q-,20q-,+8及-7/7q-是MDS患者较常见的染色体异常,-Y相对较少。FISH比传统的细胞遗传学检查更敏感可靠,两者联合应用可以提高染色体异常检出率。FISH结果可作为MDS预后评估的一项重要依据。

Objective: To detect chromosomal abnormalities in myelodysplastic syndrome(MDS) patients by fluorescence in situ hybridization(FISH) and conventional cytogenetic analysis(CCA). Methods: FISH and CCA were performed in 100 patients who were diagnosed with MDS by conventional detection of bone marrow smear and bone marrow biopsy, and were followed up.Results: Forty-eight(48%) patients showed chromosomal abnormalities. The positive rate of-5/5q-, 20q-, +8,-7/7q-, and-Y was 16%, 15%, 12%, 11%, and 5%, respectively, and that of CCA was 11%. The positive rate of molecular genetics abnormalities detected by FISH was obviously higher than that of CCA(P<0.01) and the combination of FISH and CCA increased the detection rate to 49%. The follow-up showed that the prognosis of patients with normal FISH results was significantly better than the abnormal ones. A correlation between complex karyotypes and poor prognosis was observed. Abnormality of-7/7q- was found closely correlated with the higher risk of acute leukemia and death.Conclusion: Chromosomal abnormalities have been found in 49 MDS patients. Common chromosomal abnormalities in MDS patients include-5/5q-, 20q-, +8 and-7/7q-. FISH combined with CCA can improve the detection rate of chromosomal aberrations in MDS. FISH is more sensitive than CCA for detection and can be used as an important basis for prognostic assessment for MDS.