Department of Hematology, APHP, Hôpital Pitié-Salpêtrière and Sorbonne University, Paris, France.
Department of Immunology, Laboratory Medical Immunology, Erasmus MC, Rotterdam, The Netherlands.
Leukemia. 2020 Oct;34(10):2545-2551. doi: 10.1038/s41375-020-0923-9. Epub 2020 Jun 19.
Twenty years after landmark publications, there is a consensus that the somatic hypermutation (SHM) status of the clonotypic immunoglobulin heavy variable (IGHV) gene is an important cornerstone for accurate risk stratification and therapeutic decision-making in patients with chronic lymphocytic leukemia (CLL). The IGHV SHM status has traditionally been determined by conventional Sanger sequencing. However, NGS has heralded a new era in medical diagnostics and immunogenetic analysis is following this trend. There is indeed a growing demand for shifting practice and using NGS for IGHV gene SHM assessment, although it is debatable whether it is always justifiable, at least taking into account financial considerations for laboratories with limited resources. Nevertheless, as this analysis impacts on treatment decisions, standardization of both technical aspects, and data interpretation becomes essential. Also, the need for establishing new recommendations and providing dedicated education and training on NGS-based immunogenetics is greater than ever before. Here we address potential and challenges of NGS-based immunogenetics in CLL. We are convinced that this perspective helps the hematological community to better understand the pros and cons of this new technological development for CLL patient management.
二十年后，有一项共识认为，克隆型免疫球蛋白重链可变（IGHV）基因的体细胞超突变（SHM）状态是慢性淋巴细胞白血病（CLL）患者进行准确风险分层和治疗决策的重要基石。IGHV SHM 状态传统上是通过常规 Sanger 测序来确定的。然而，NGS 开创了医学诊断的新纪元，免疫遗传学分析也紧随这一趋势。确实有越来越多的人要求转变实践，使用 NGS 进行 IGHV 基因 SHM 评估，尽管考虑到资源有限的实验室的财务考虑，这是否总是合理的还有争议。然而，由于这种分析会影响治疗决策，因此标准化技术方面和数据解释变得至关重要。此外，建立新的建议并提供基于 NGS 的免疫遗传学的专门教育和培训的需求比以往任何时候都更加迫切。在这里，我们探讨了基于 NGS 的免疫遗传学在 CLL 中的潜在问题和挑战。我们坚信，这种观点有助于血液学社区更好地理解这项新技术发展对 CLL 患者管理的利弊。
