系统性轻链型淀粉样变性细胞遗传学异常检测分析

目的研究系统性轻链型(AL)淀粉样变性患者的细胞遗传学特征。方法收集初诊系统性AL淀粉样变性患者24例和多发性骨髓瘤(MM)患者135例,通过CD138磁珠分选(MACS)结合间期荧光原位杂交(FISH)技术检测系统性AL淀粉样变性和MM患者的细胞遗传学异常,比较二者细胞遗传学异常差异。分析系统性AL淀粉样变性FISH异常与血清游离轻链(sFLC)、N端脑钠肽前体(NT-proBNP)、B型脑钠肽前体(proBNP)、血清肌钙蛋白(cTnT和cTnI)及器官累及之间的关系。结果系统性AL淀粉样变性细胞遗传学异常阳性率为62.5%,其中14q32异位、t(11;14)和+1q21发生率较高,分别为41.7%、37.5%和29.2%。系统性AL淀粉样变性细胞遗传学异常总阳性率、del(13/13q14)缺失率及并存大于或等于3种遗传学异常的发生率均显著低于MM患者,差异有统计学意义(P0.05),而t(11;14)发生率显著高于MM,差异有统计学意义(P0.05)。系统性AL淀粉样变性细胞遗传学异常与临床相关检测指标及器官累及无显著关系(P0.05)。结论 MACS-FISH可用于检测系统性AL淀粉样变性患者的细胞遗传学异常。系统性AL淀粉样变性患者14q32异位、t(11;14)、+1q21有较高的发生率,t(11;14)发生率显著高于MM患者,而并存大于或等于3种细胞遗传学异常和del(13/13q14)发生率显著低于MM患者。

Detection and analysis of cytogenetic abnormalities in systemic AL amyloidosis

Objective To investigated the cytogenetic characteristics of the patients with systemic AL amyloidosis .Methods Collection of 24 cases of systemic AL amyloidosis and 135 cases of MM with newly diagnosed patients ,Which cytogenetic abnor‐malities were detected by MACS‐FISH ,and to compare the difference between MM and systemic AL amyloidosis in the incidence of cytogenetic abnormalities .Analysis of the relationship between cytogenetic abnormalities of systemic AL amyloidosis and sFLC , NT‐proBNP ,proBNP ,cTnT ,cTnI ,and organ involvement .Results The positive rate of total cytogenetic abnormality in systemic AL amyloidosis was 62 .5% ,and the positive rate of 14q32 translocation ,t(11;14) and +1q21 were higher ,41 .7% ,37 .5% and 29 .2% ,respectively .The positive rate of total cytogenetic abnormality ,del(13/13q14) and coexistence of ≥3 kinds of cytogenetic abnormalities of systemic AL amyloidosis were significantly lower than that of MM (P<0 .05) ,while the positive rate of t (11;14) was significantly higher than that of MM (P<0 .05) .There was no significant correlation between the cytogenetic abnormalities and clinical detection index and organ involvement(P>0 .05) .Conclusion MACS‐FISH can be used to detect the cytogenetic abnormal‐ities in patients with systemic AL amyloidosis ,in which the incidence of 14q32 translocation ,t(11 ;14) and +1q21 were higher .The incidence of t(11 ;14) was significantly higher than that of MM ,but coexistence of ≥3 kinds of cytogenetic abnormalities and del (13/13q14) was significantly lower than that of MM .