间期荧光原位杂交技术检测多发性骨髓瘤基因组异常的临床意义

Detection of genomic abnormalities by interphase fluorescence in situ hybridization in multiple myeloma

目的探讨I-FISH技术检测MM基因组异常的临床意义。方法应用cc技术（常规R显带）和I-FISH技术[包括GLP13q14（RB1基因）、GLP17p13．1（P53基因）、GLP13q14．3（D13S319）、GLP1q21及GLP14q32（IgH基因）DNA序列探针]分别对20例初治的MM患者（按Bataille分期，Ⅰ期7例、Ⅱ期5例、Ⅲ期8例）进行基因组检测；比较两种方法对MM染色体和基因组异常的检出率；并分析基因组异常与Bataille分期的关系。结果CC技术从20例MM患者中检出1例[5％（1／20）]染色体异常，且为复杂核型-46，XX，-2，del（3）（p21），add（6）（q26），der（10）（q26），der（14）（32），＋mar，inc[6]。I-FISH检出12例[60％（12／20）]基因组异常，其中基因组异常发生频率在RB1、D13S319和1：＇53均为30％（6／20），IgH和1q21均为20％（4／20）；经配对，检验，I—FISH的检出率高于cc技术（，=9．09，P=0．001）。在20例MM患者中，RB1基因异常的6例，Ⅰ期占1／20，Ⅱ期占1／20，Ⅲ期占4／20；D13S319异常的6例，Ⅰ期占2／20，Ⅱ期占1／20，Ⅲ期占3／20；P53基因异常的6例，Ⅰ期占2／20，Ⅲ期占4／20；1q21异常的4例，Ⅰ期和Ⅲ期占2／20；IgH基因异常的4例，Ⅰ期占1／20，Ⅲ期占3／20。结论I-FISH对MM患者基因组异常检出率较高，其可检出不同Bataille分期的MM患者。

Objective To investigate the clinical significance of I-FISH for detection of genomic abnormalities in MM. Methods Twenty newly diagnosed MM patients（ seven cases at stage I , five cases at stage Ⅱ and eight cases at stage HI according to Bataille staging） were analyzed by combining the technique of CC （ R-binding stain） and Ⅰ-FISH [ including GLP13q14 （ RB1 gene ）, GLP17pl3.1 （ P53 gene ）, GLP13ql4. 3 （D13S319）, GLP1 q21, GLP14q32 （IgH gene） DNA sequence probes ]. These two methods were compared for the detection rates of chromosomal and genomic abnormalities in MM and the association between genomic abnormalities and Bataille stages was also analyzed. Results CC examination showed only 1 case [5% （1/20） ] was found complex chromosomal abnormalities 46,XX,-2,del（3） （p21） ,add（6） （q26）, der（10） （q26）, der（14） （q32）, ＋ mar, inc [ 6 ]. While Ⅰ-FISH assay showed that 12 cases [ 60% （12/20） ] were found genomic abnormalities. The frequencies of RB1, D13S319 and P53 were all 30% （6/20）, and the frequencies of IgH gene and lq21 were both 20% （4/20）. The detection rate of the I-FISH was much higher than CC （X2 = 9. 09, P = 0. 001 ） according to paired X^2 test. Of 20 patients, 6 cases had RB1 gene abnormality, 1 case at stage Ⅰ , 2 cases at stage Ⅱ and 4 cases at stage HI. Of 20 patients, 6 cases had D13S319 gene abnormality, 2 cases at stage I , 1 case at stage Ⅱ and 3 cases at stage Ⅲ. Of 20 patients, 6 cases in 20 had P53 gene abnormality, 2 cases at stage Ⅰ and 4 cases at stage m. of 20 patients, 4 cases had lq21 gene abnormality, 2 cases at stage Ⅰ and 2 cases at stage Ⅲ. Of 20 patients, 4 cases had IGH gene abnormality, 1 case at stage Ⅰ and 3 cases at stage Ⅲ. Conehtsion Ⅰ- FISH has higher detection rate for the genomic abnormalities in MM and can be used in detection of MM patients in different Bataille stages.