Departments of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065; email:
Annu Rev Pathol. 2017 Jan 24;12:277-304. doi: 10.1146/annurev-pathol-052016-100200. Epub 2016 Dec 5.
Amyloidoses are a spectrum of disorders caused by abnormal folding and extracellular deposition of proteins. The deposits lead to tissue damage and organ dysfunction, particularly in the heart, kidneys, and nerves. There are at least 30 different proteins that can cause amyloidosis. The clinical management depends entirely on the type of protein deposited, and thus on the underlying pathogenesis, and often requires high-risk therapeutic intervention. Application of mass spectrometry-based proteomic technologies for analysis of amyloid plaques has transformed the way amyloidosis is diagnosed and classified. Proteomic assays have been extensively used for clinical management of patients with amyloidosis, providing unprecedented diagnostic and biological information. They have shed light on the pathogenesis of different amyloid types and have led to identification of numerous new amyloid types, including ALECT2 amyloidosis, which is now recognized as one of the most common causes of systemic amyloidosis in North America.
淀粉样变是一组由蛋白质异常折叠和细胞外沉积引起的疾病。沉积物导致组织损伤和器官功能障碍，特别是在心脏、肾脏和神经中。至少有 30 种不同的蛋白质可导致淀粉样变性。临床管理完全取决于沉积的蛋白质类型，因此取决于潜在的发病机制，并且通常需要高风险的治疗干预。基于质谱的蛋白质组学技术在分析淀粉样斑块中的应用改变了淀粉样变性的诊断和分类方式。蛋白质组学检测已广泛用于淀粉样变性患者的临床管理，为诊断和生物学信息提供了前所未有的信息。它们揭示了不同淀粉样变类型的发病机制，并导致了许多新的淀粉样变类型的鉴定，包括 ALECT2 淀粉样变，它现在被认为是北美的最常见的系统性淀粉样变性的原因之一。
