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Molecular Diagnostics of Non-Hodgkin Lymphoma.
The Cancer Journal ( IF 2.6 ) Pub Date : 2020-05-01 , DOI: 10.1097/ppo.0000000000000447
James P Solomon 1 , Maria E Arcila 2
Affiliation  

Non-Hodgkin lymphoma encompasses a diverse group of B-cell and T-cell neoplasms. Current classification is based on clinical information, histologic assessment, immunophenotypic characteristics, and molecular alterations. A wide range of genetic alterations, including large chromosomal structural rearrangements, aneuploidies, point mutations, and copy number alterations, have been reported across all types of lymphomas. Many of these are now incorporated into the World Health Organization–defined criteria for the diagnostic evaluation of patients with lymphoid proliferations and, therefore, their accurate identification is paramount for diagnosis, subclassification, and selection of treatment. In addition to their value in the diagnostic setting, many alterations that are not routinely evaluated in standard clinical practice may still define specific disease entities as they have important implications in risk stratification, as well as roles in emerging alternate therapies and disease monitoring. Because of the complexity and range of alterations, their accurate and sensitive assessment requires a careful selection of technology. Here, we discuss the most commonly used molecular techniques in current clinical practice and highlight some of the benefits and pitfalls based on the type of alteration.



中文翻译:

非霍奇金淋巴瘤的分子诊断。

非霍奇金淋巴瘤囊括了B细胞和T细胞肿瘤。当前的分类基于临床信息,组织学评估,免疫表型特征和分子改变。在所有类型的淋巴瘤中,已经报道了广泛的遗传改变,包括大的染色体结构重排,非整倍性,点突变和拷贝数改变。现在,许多此类方法已被纳入世界卫生组织(WHO)定义的标准,用于对淋巴样增生的患者进行诊断评估,因此,对其进行准确识别对于诊断,分类和选择治疗至关重要。除了其在诊断设置中的值外,许多在标准临床实践中未进行常规评估的变更仍可能定义特定的疾病实体,因为它们对风险分层以及在新兴替代疗法和疾病监测中的作用具有重要意义。由于变更的复杂性和范围,对它们进行准确而敏感的评估需要仔细选择技术。在这里,我们讨论当前临床实践中最常用的分子技术,并根据改变的类型突出一些好处和陷阱。

更新日期:2020-05-01
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