Bagg Adam
Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, 7.103 Founders Pavilion, 3400 Spruce St., Philadelphia, PA 19104-4283, USA.
J Mol Diagn. 2008 Sep;10(5):396-410. doi: 10.2353/jmoldx.2008.080061. Epub 2008 Aug 7.
Immunoglobulin gene rearrangement analysis is one of the more commonly performed assays available on the hematopathology menu of clinical molecular pathology laboratories. The analysis of these rearrangements provides useful information on a number of different levels in the evaluation of lymphoproliferations. An appreciation of the various mechanisms involved in the numerous physiological pathways affecting the immunoglobulin genes, and hence antibody molecules, is central to an understanding of B-cell development vis-à-vis the generation of immunological diversity. Knowledge about the intricate complexities of these mechanisms is also germane to an evaluation of testing methodologies. With this information, it is easier to develop an understanding of how contemporary molecular testing of immunoglobulin gene rearrangements has evolved, from historically quite heterogeneous, fairly flawed, and rather ugly approaches to current more-standardized protocols. In addition, recognition of how such genetic changes with good intentions can turn bad has fostered increasing insights into the pathogenesis of B-cell lymphomas and leukemias. Despite the significant improvements in the design of immunoglobulin gene rearrangement assays, numerous pitfalls and caveats remain. Accordingly, it is crucial to consider such testing a tool, and although most useful, it is one of many tools that may be required to build cogent diagnoses.
免疫球蛋白基因重排分析是临床分子病理学实验室血液病理学检测菜单中较为常用的检测方法之一。这些重排的分析在评估淋巴增殖的多个不同层面提供了有用信息。了解影响免疫球蛋白基因进而影响抗体分子的众多生理途径中涉及的各种机制,对于理解B细胞发育以及免疫多样性的产生至关重要。了解这些机制的复杂细节对于评估检测方法也很重要。有了这些信息,就更容易理解免疫球蛋白基因重排的当代分子检测是如何从历史上相当异质、存在相当多缺陷且相当不完善的方法发展到当前更标准化的方案的。此外,认识到这些善意的基因变化如何可能走向不良,有助于加深对B细胞淋巴瘤和白血病发病机制的理解。尽管免疫球蛋白基因重排检测的设计有了显著改进,但仍存在许多陷阱和注意事项。因此,至关重要的是将此类检测视为一种工具,尽管它非常有用,但它只是做出有说服力诊断可能需要的众多工具之一。