University of Pennsylvania, Philadelphia, PA 19104, USA.
Hematology Am Soc Hematol Educ Program. 2011;2011:330-5. doi: 10.1182/asheducation-2011.1.330.
A plethora of genetic abnormalities has been described in B-cell lymphomas, some of which arise when physiologic mechanisms involved in the generation of immunologic diversity go awry. Several different lymphoma types, such as follicular lymphoma (FL), mantle cell lymphoma (MCL), and Burkitt lymphoma (BL), are associated with hallmark translocations that occur as a consequence of these errors (t(14;18)(q32;q21), t(11;14)(q13;q32), and t(8;14)(q24;q32), respectively); however, none of these associations is absolute and none is completely diagnostically specific or sensitive. The advantages and limitations of a variety of different testing strategies in the 2 most common lymphomas, FL and diffuse large B-cell lymphoma (DLBCL), are reviewed herein, including an evaluation of the role of PCR-based approaches, FISH, and more nascent genomic technologies. The use of immunophenotypic strategies that may potentially provide, albeit imperfectly, more user-friendly surrogates for underlying genetic aberrations and cell-of-origin designations derived from gene-expression profiling analyses are also discussed. Finally, a newly designated category of lymphoma with features intermediate between DLBCL and BL is appraised, highlighting the central role of genetic analysis in this diagnostic gray zone.
在 B 细胞淋巴瘤中已经描述了大量的遗传异常，其中一些是由于参与免疫多样性产生的生理机制出错而产生的。几种不同的淋巴瘤类型，如滤泡性淋巴瘤（FL）、套细胞淋巴瘤（MCL）和伯基特淋巴瘤（BL），与标志着这些错误发生的易位相关（t(14;18)(q32;q21)、t(11;14)(q13;q32)和 t(8;14)(q24;q32)）；然而，这些关联都不是绝对的，也没有一个是完全具有诊断特异性或敏感性的。本文回顾了在最常见的两种淋巴瘤，滤泡性淋巴瘤和弥漫性大 B 细胞淋巴瘤（DLBCL）中，各种不同检测策略的优缺点，包括对基于 PCR 方法、FISH 和新兴基因组技术的评估。还讨论了免疫表型策略的使用，尽管不完美，但这些策略可能为潜在的遗传异常和源自基因表达谱分析的细胞起源指定提供更用户友好的替代物。最后，评估了一种具有介于 DLBCL 和 BL 之间特征的新指定的淋巴瘤类别，突出了遗传分析在这个诊断灰色区域中的核心作用。
