文章：

血液质谱检测轻链淀粉样变性残留病灶优于标准技术

Blood mass spectrometry detects residual disease better than standard techniques in light-chain amyloidosis

原文发布日期：2020-02-25

DOI: 10.1038/s41408-020-0291-8

类型: Article

开放获取: 是

英文摘要：

In patients with immunoglobulin light-chain (AL) amyloidosis, depth of hematologic response correlates with both organ response and overall survival. Our group has demonstrated that screening with a matrix-assisted laser desorption/ionization-time-of-flight (TOF) mass spectrometry (MS) is a quick, sensitive, and accurate means to diagnose and monitor the serum of patients with plasma cell disorders. Microflow liquid chromatography coupled with electrospray ionization and quadrupole TOF MS adds further sensitivity. We identified 33 patients with AL amyloidosis who achieved amyloid complete hematologic response, who also had negative bone marrow by six-color flow cytometry, and who had paired serum samples to test by MS. These samples were subjected to blood MS. Four patients (12%) were found to have residual disease by these techniques. The presence of residual disease by MS was associated with a poorer time to progression (at 50 months 75% versus 13%, p = 0.003). MS of the blood out-performed serum and urine immunofixation, the serum immunoglobulin free light chain, and six-color flow cytometry of the bone marrow in detecting residual disease. Additional studies that include urine MS and next-generation techniques to detect clonal plasma cells in the bone marrow will further elucidate the full potential of this technique.
 

摘要翻译： 

在免疫球蛋白轻链（AL）淀粉样变性患者中，血液学缓解深度与器官缓解及总生存期均相关。我们研究团队证实，采用基质辅助激光解吸/电离飞行时间质谱进行筛查是一种快速、灵敏且准确的诊断和监测浆细胞疾病患者血清的方法。结合电喷雾电离和四极杆飞行时间质谱的微流液相色谱技术进一步提升了检测灵敏度。我们筛选出33例达到淀粉样变性完全血液学缓解、六色流式细胞术检测骨髓呈阴性、且拥有配对血清样本可供质谱检测的AL淀粉样变性患者。对这些样本进行血液质谱分析后，发现4例患者（12%）存在残留病变。质谱检测到残留病变与较短的疾病进展时间显著相关（50个月时75%对比13%，p=0.003）。在残留病变检测方面，血液质谱技术的表现优于血清和尿免疫固定电泳、血清免疫球蛋白游离轻链检测以及六色流式细胞术骨髓分析。未来结合尿液质谱与新一代骨髓克隆性浆细胞检测技术的研究，将进一步揭示该方法的全面应用潜力。

原文链接：

Blood mass spectrometry detects residual disease better than standard techniques in light-chain amyloidosis