11例多发性骨髓瘤的血清自由轻链及FISH分析

Analysis of FISH and Serum Free Light Chain in 11 Patients with Multiple Myeloma

目的研究多免疫球蛋白、血清自由轻链检测值及比率改变和遗传学异常在多发性骨髓瘤(MM)中的意义。方法对11例初诊MM骨髓标本进行染色体R显带分析,以一组探针荧光原位杂交(FISH)方法进行检测:1q21、RB1、P53、D13S319、IgH。以免疫比浊法定量检测血清中免疫球蛋白、κ、λ轻链值。结果 11例多发性骨髓瘤患者染色体核型10例正常,1例为52XY,+2,+3,+4,+5,+6,+18。FISH检测9例异常,2例正常。检出1种异常2例(例5、例7),IgH重排。2种异常2例(例1、例10),IgH重排、1q21扩增或RB1、D13S319缺失。3种异常2例(例9、例11),RB1、D13S319缺失和IgH重排或1q21扩增。4种异常2例(例3、6),IgH重排,1q21扩增,RB1、D13S319缺失。5种异常1例(例2)。以IgH重排最多,7例,且基因断裂后信号点类型多样。RB1、D13S319缺失次之,6例。1q21扩增5例,P53缺失最少见,例2检测到P53扩增。5例血清IgG升高,3例κ型,2例λ型。6例血清IgA升高,5例κ型,1例λ型。11例MM患者κ/λ比率在κ组明显升高,在λ组显著降低。结论血清自由轻链及其比率测定结合染色体核型和FISH分析,在MM诊断及治疗监测中有重要意义。

Objective To investigate the value of the variation of serum immunoglobulin,free light chain concentration,the ratio and aberrations of cytogenetics. Methods The bone marrow aspirates of ll cases with multiple myeloma（MM） were analyzed by R banded and FISH detection by a pair of probes as lq21, RB1, P53, D13S319, IgH. The quantitation detection of serum free light chains as K, and immunoglobulin were done by immunoturbidimetry. Results In 11 cases with MM, 1 case had 52,XY, ＋ 2, ＋ 3, ＋ 4, ＋ 5, ＋ 6, ＋ 18 ,and 10 cases had normal karyotypes. By the method of Fluorescence in Situ Hybridization（FISH） , 9 cases had aberrations, 2 were normal. One kind of abnormality as IgH rearrangement occurred in 2 cases（ case 5 ,case 7）. Two kinds of abnormalities as IgH rearrangement and amplication lq21 or deletion of Rbl and D13S319 occurred in case 1 and case 10 respectively. Three kinds of abnormalities as deletion of Rbl and D13S319 and IgH rearrangement or amplication lq21 occurred in case 9 and case 11. Four abnormalities as IgH rearrangement,amplication lq21 ,deletion of Rbl and D13S319 occured in case 3 and case 6, five abnormalities in case 2. IgH rearrangement was the most common abnomalities in 11 cases with MM, and signal patterns varied greatly. The second common were deletion of Rbl and D13S319, then amplication 1 q21. Deletion of P53 was rare, amplication of p53 were seen in case 2. Serum IgG increased in 5 cases, of which 3 cases for K light chain rising, 2 cases for ~ light chain rising. Serum IgA increased in 6 cases,of which K rising in 5 cases, h rising in 1 case. K/λ ratios in 11 MM cases were significantly high in K group and greatly reduced in λ goup. Conclusion Detection of serum free light chain and the ratio combining with chromosome karyotype and FISH analysis were significantly important in MM diagnosis and treatment response supervising.