荧光原位杂交和常规核型分析检测骨髓增生异常综合征8号染色体三体的比较

Comparison of Detection of Trisomy 8 with Fluorescence In Situ Hybridization and Conventional Karyotype Analysis in Myelodysplastic Syndrome

8号染色体三体 (8三体 )是骨髓增生异常综合征 (MDS)常见的染色体异常。本研究比较间期荧光原位杂交 (FISH)技术和常规染色体核型分析法检测 8三体。应用光谱绿荧光标记的 8号染色体着丝粒探针 ,建立间期FISH技术并联合应用常规细胞遗传学分析 (CCA)对 8三体的MDS进行综合研究。结果发现 ,染色体核型为全 +8,部分 +8和只有 1个中期 +8组MDS RA和MDS RAEB的构成比例无显著性差别。FISH检测 8三体克隆在核型全 +8组仅有 6 6 1%的检出率 ,部分 +8组检出率显著高于 1个 +8组 ,孤立 +8组显著高于复合 +8组。MDS RA组与MDS RAEB组 8三体检出率近似。部分 +8组的FISH检测与CCA检测值呈线性相关。 2例病人中 ,8三体百分率随病情发展而增加。 1/ 15的核型无 +8患者 ,而FISH检测有 8三体克隆存在。克隆的增长预示疾病进展。结论表明FISH技术可灵敏而又精确地检测MDS患者体内的 +8克隆 ,可应用于MDS辅助诊断、疗效评价及预示疾病转归 ;8三体MDS患者 +8克隆的大小与其分型无相关性 ,孤立型 +8似多见于MDS

The purpose of this study was to compare the detection of trisomy 8 in myelodysplastic syndrome(MDS) patients with interphase fluorescence in situ hybridization(FISH) and cytogenetic karyotype analysis. Using Spectrum Green labeled chromosome 8 centromere probe, interphase FISH was established. The trisomy 8 clones were simultaneously detected in 48 MDS cases with FISH and conventional cytogenetic analysis(CCA). Results showed that the CCA revealed no significant difference of constitutional proportion between MDS RA and MDS RAEB with karyotypes of whole +8, partial +8 and one +8. With FISH, detectable rates were 66.1% for whole +8. Partial +8 and sole +8 were significantly higher than one +8 and complex +8, respectively. The percentages of trisomy 8 were similar in MDS RA and MDS RAEB. Trisomy 8 was detected in 1 of 15 specimens with normal or abnormal karyotype without trisomy 8 by FISH. There was linear correlation between the percentages of partial +8 detected by FISH and CCA. Two patients received CCA and FISH examination at diagnosis and during treatment, the percentage of trisomy 8 was increased with progress of disease. In conclusion, our results showed that FISH is a sensitive and accurate technique to detect trisomy 8 in MDS patients. It can provide contribute to diagnosis, assessment of curative effect and predicting progress of disease in MDS. Clone size of trisomy 8 does not related to classification of MDS, but sole +8 is seems to see in MDS RA frequently.