摘要
目的 联合应用四种克隆性分析法对骨髓增生异常综合征 (MDS)的早期诊断进行研究。方法 对临床上怀疑为MDS的 5 0例患者应用常规染色体核型分析、姐妹染色单体分化 (SCD)染色、荧光原位杂交 (FISH)和聚合酶链反应 单链构象多态性分析 (PCR SSCP)等技术分别检测染色体畸变、细胞周期时间、8三体 (+8)和N ras突变。结果 4 5例符合FAB诊断标准 ;5例不符合FAB标准 ,其中 2例患者只有红系病态造血改变 ,形态学诊断均为可疑RA ,另 3例患者无涉及三系的病态造血改变 ,形态学诊断分别为增生性贫血 (1例 )、慢性再生障碍性贫血 (2例 )。在这 5例患者中 ,染色体核型分析发现 4例具有克隆性染色体异常 ;SCD检测证实 2例细胞周期时间延迟 ;FISH检测发现 3例存在 +8异常 ;PCR SSCP发现 1例存在N ras外显子 1突变 ,证实它们实际上均为RA患者。结论 联合应用染色体核型分析、SCD、FISH和PCR
Objective To evaluate the four techniques for clonal analysis in the early diagnosis of myelodysplastic syndromes (MDS). Methods Four techniques for clonal analysis were performed in bone marrow samples from fifty patients with suspected MDS: ①Conventional cytogenetics (CC) for clonal chromosomal abnormalities; ②BrdU sister chromatid differentiation (BrdU SCD) for cell cycle analysis; ③Fluorescence in situ hybridization (FISH) for trisomy 8; ④PCR SSCP for N ras mutation. Results The diagnosis of forty five patients was compatible with FAB criteria of MDS, the other five patients didn't fully meet the FAB criteria. They had either only one lineage dyspoiesis or no any obvious dysplastic features and two of them were diagnosed as suspicious refractory anemia (RA), one as anemia with hypercellular bone marrow and two as chronic aplastic anemia. The results of the four techniques performed in them showed that four patients had clonal karyotype abnormalities, two had prolonged cell cycle, three had trisomy 8 of different proportions, and one had N ras mutation. Thus, they were all diagnosed as RA. Conclusion The untypical MDS patients can be diagnosed early by examination with combining several clonal analysis techniques.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2002年第6期307-310,共4页
Chinese Journal of Hematology
关键词
骨髓增生异常综合征
诊断
细胞遗传学
姐妹当色单体分化染色
原位杂交
Myelodysplastic syndrome
Diagnosis
Cytogenetics
Sister chromatid differentiation
In situ hybridization,fluorescence
Point mutation
