淀粉样变性分型的研究进展  

New Advances in the Subtyping of Systemic Amyloidosis——Review

作　　者：孙维绎[1] 李剑[1] 

机构地区：[1]北京协和医院血液科,北京100730

出　　处：《中国实验血液学杂志》2014年第1期259-262,共4页Journal of Experimental Hematology

基　　金：国家自然基金面上项目(81370672);首都临床特色应用研究(Z131107002213050);卫生公益性行业科研专项经费项目(201202017)

摘　　要：淀粉样变性是由蛋白结构异常造成的一组疾病。淀粉样物质在不同脏器沉积进而影响脏器功能。根据致病蛋白种类可将淀粉样变性分为多种亚型,每种亚型的临床表现、治疗方案和预后都不尽相同。传统的免疫荧光和免疫组织化学分型方法存在抗体种类有限、背景染色干扰等问题,具有一定的误诊率。最近,以蛋白质组学为基础的激光显微切割联合质谱分析技术(LMD/MS)被成功应用于淀粉样变性分型。本文就淀粉样变性分型方法的最新研究进展进行综述。Amyloidosis is a heterogeneous group of diseases caused by deposition of misfolded proteins,which usually leads to organ dysfunction.Accurate typing of amyloid deposits is of paramount importance because organ involvements and disease prognosis differ widely among different subtypes,and its treatments are type specific.Correct identification of amyloidogenic protein is crucial to proper treatment.Traditional antibody-based diagnostic methods such as immunohistochemistry and immunofluorescence are helpful in amyloid typing,but limitations of those approaches including antibody availability and serum protein contamination impair sensitivity and specificity of diagnosis.Sometimes misdiagnosis can lead to catastrophic therapeutic outcome.Genetic testing is important to confirm the diagnosis of hereditary amyloidosis.Nowadays proteomic analysis has been used as an advanced strategy for amyloid typing and the gold-standard today is laser microdissection followed by mass spectrometry （LMD/MS）,which can identify causal protein without additional clinical information.Furthermore,LMD/MS is performed on formalin-fixed paraffinembedded （FFPE） specimens,thus large scale retrospective studies based on archival material can be conducted.In recent studies,LMD/MS has been proven superior to traditional methods without the drawbacks mentioned above.This proteomic approach provides guarantee of appropriate clinical management and probability of new insights into the mechanism of amyloidosis.In this article the new advances of studies on subtyping of systemic amyloidosis are reviewed.

关 键 词：淀粉样变性 浆细胞病 激光显微切割 蛋白质组学 

分 类 号：R-559[医药卫生]