荧光原位杂交技术检测一例多发性骨髓瘤五类分子细胞遗传学异常

Fluorescence in situ hybridization identifies five cytogenetics aberrations in multiple myeloma

目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在检测多发性骨髓瘤(multiple myeloma,MM)1q21缺失、RB1缺失、D13S319缺失、p53缺失和IgH相关易位五类分子细胞遗传学异常中的应用价值。方法应用不同荧光素标记的1q21/RB1、D13S319/p53、14q32(IgH基因)三组探针检测分析10例正常骨髓涂片标本和1例MM患者骨髓涂片标本。结果 FISH技术以10例正常骨髓标本建立参考范围,检测出该例MM患者骨髓核型中存在RB1纯合性缺失。结论 FISH技术可以检测出MM患者的分子细胞遗传学异常。

Objective To explore the value of the technique of fluorescence in situ hybridization(FISH) in the identification of 1q21 deletion、RB1 deletion、D13S319 deletion、p53deletion and IgH translocations five cytogenetics aberrations in multiple myeloma(MM). Method Ten normal and one MM bone marrow(BW)smears were detected and analyzed by FISH which had different fluorescence labeled three pairs of probes( 1q21/RB1、D13S319/p53、14q32(gene IgH)). Result With the reference range of ten normal BW specimen, FISH could identify the loss of puriosity of RB1 in the MM patient. Conclusion FISH could identify aberrations in MM patient.