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目的探讨多重荧光原位杂交(M-FISH)技术在骨髓增生异常综合征(MDS)患者复杂核型异常检测中的应用价值。方法对10例常规R显带具有复杂染色体异常(CCA)的MDS患者应用M-FISH确定复杂染色体的重排及标记染色体的组成,识别并确定微小易位。结果M-FISH共检出37种结构重排,包括插入易位、缺失、易位及衍生染色体。其中34种为不平衡重排;3种为平衡重排,包括:t(6;22)(q21;q12)、t(9;19)(q13;p13)和t(3;5)(?;?)。有7种重排文献未见报道。涉及17号染色体的异常及-5/5q-最为常见(10例患者中两种异常各占7例)。结论对伴有CCA的MDS患者M-FISH技术可以明确常规细胞遗传学(CC)分析中复杂染色体异常,并发现和纠正CC分析中漏检及误检的异常。为MDS患者染色体异常的分析提供了一种较理想的方法。
Objective To investigate the value of multiple fluorescence in situ hybridization (M-FISH) in the detection of complex karyotypic abnormalities in patients with myelodysplastic syndrome (MDS). Methods M-FISH was used to determine the rearrangement of complex chromosomes and the composition of the marker chromosome in 10 MDS patients with conventional R-banding complicated with chromosomal abnormalities (CCA). The micro-translocation was identified and identified. Results M-FISH detected 37 kinds of structural rearrangements, including translocation, deletion, translocation and derived chromosomes. Of which 34 are unbalanced rearrangements; 3 are balanced rearrangements including t (6; 22) (q21; q12), t (9; 19) (q13; p13) and t ;?). There are seven kinds of rearrangement literature have not been reported. Abnormalities involving chromosome 17 and -5 / 5q- were the most common (7 of the 10 patients had both abnormalities). Conclusions M-FISH in patients with MDS associated with CCA can identify complex chromosomal abnormalities in routine cytogenetics (CC) analysis and identify and correct abnormalities in missed and missed tests in CC analysis. The MDS patients with chromosomal abnormalities analysis provides a more ideal method.