荧光原位杂交检测骨髓增生异常综合征患者染色体复杂核型变化及临床意义的研究

目的:探讨骨髓增生异常综合征(MDS)患者复杂核型变化及其临床意义。方法:在常规细胞遗传学(CC)方法检测基础上,运用荧光原位杂交技术(FISH),采用多种位点特异性DNA探针(染色体全染、特殊位点、双色易位融合探针)对35例MDS患者进行染色体核型分析。结果:35例MDS患者中有24例出现染色体异常,包括染色体数目及结构的异常,阳性率占68.6%。其中6例出现5号染色体单体或5号染色体长臂丢失;4例出现7号染色体单体或7号染色体长臂丢失;1例出现等臂7号染色体;2例出现8号染色体三倍体;3例出现Y染色体丢失;2例出现16号染色体倒位;5例出现复杂的染色体易位,包括t(6;?),(t8;21)(q22;q22),(t7;?),der(19)(t19;?)(q13.3;?),der(9)(t9;?)(p11;?)(t6;9),(t8;14),(t1;8)。结论:FISH技术在MDS染色体核型分析上可作为重要技术补充手段弥补CC检查的不足,对MDS准确诊断分型、合理治疗方法的选择乃至对预后的评估都具有重要的临床意义。

Complex chromosomal aberrations detected by fluorescence in situ hybridization and their clinical significance in patients with myelodysplastic syndrome

Objective: To investigate the complex chromosomal aberrations and their clinical significance in patients with myelodysplastic syndrome (MDS). Methods: On the basis of conventional cytogenetics,karyotype analysis was performed in the bone marrow cells from 35 patients with MDS by using fluorescence in situ hybridization (FISH) with commercially available DNA probes including whole chromosome painting probes,locus specific probes,and dual color,dual fusion translocation probes. Results: Chromosomal anomalies including numerical chromosomal anomalies and structural rearrangements were found in 24 of 35 patients. Of these 24 patients,6 had a loss of chromosome 5 or a loss of long arm of chromosome 5 (5q-);4 had a loss of chromosome 7 or a loss of long arm of chromosome 7 (7q-);1 had a isochromosome 7;2 had a trisomy 8;3 had a loss of Y chromosome;2 had a inversion chromosome 16;5 had a complex chromosome translocation including t(6;?),t(8;21)(q22;q22),t(7;?),der(19)t(19;?)(q13.3;?),der(9)t(9;?)(p11;?),t(6;9),t(8;14),t(1;8). Conclusion: FISH could improve conventional cytogenetics,and it plays an important role in the diagnosis,treatment,and prognosis in patients with MDS.