Sutanto Henry, Pratiwi Laras, Romadhon Pradana Zaky, Bintoro Siprianus Ugroseno Yudho
Internal Medicine Study Program, Department of Internal Medicine, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
Department of Internal Medicine, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
Hum Genet. 2025 May;144(5):481-503. doi: 10.1007/s00439-025-02745-x. Epub 2025 Apr 21.
Next-generation sequencing (NGS) has emerged as a powerful tool for advancing research in chronic myeloid leukemia (CML) by providing a deeper understanding of its genetic complexity. Beyond detecting the hallmark BCR::ABL1 fusion gene, NGS has enabled the identification of additional mutations associated with disease progression, therapy resistance, and clonal evolution. NGS also facilitates the detection of rare BCR::ABL1 fusion variants and cryptic rearrangements, offering a more refined genetic characterization of the disease. Additionally, it enhances the study of minimal residual disease (MRD) and evolving resistance patterns, which are crucial for developing targeted therapeutic strategies. However, challenges such as data interpretation, standardization, and cost constraints continue to limit the widespread application of NGS in routine research and clinical settings. This review explores the contributions of NGS to CML research, highlighting its role in uncovering novel genetic alterations, tracking clonal evolution, and identifying potential therapeutic targets. As sequencing technologies evolve, NGS is expected to further shape the future of CML research, providing critical insights that may ultimately refine disease management strategies.
下一代测序（NGS）已成为推进慢性粒细胞白血病（CML）研究的有力工具，它能让人们更深入地了解其基因复杂性。除了检测标志性的BCR::ABL1融合基因外，NGS还能识别与疾病进展、治疗耐药性和克隆进化相关的其他突变。NGS还便于检测罕见的BCR::ABL1融合变体和隐匿重排，从而对该疾病进行更精确的基因特征描述。此外，它还加强了对微小残留病（MRD）和不断演变的耐药模式的研究，这对制定靶向治疗策略至关重要。然而，数据解读、标准化和成本限制等挑战仍然限制了NGS在常规研究和临床环境中的广泛应用。本综述探讨了NGS对CML研究的贡献，强调了其在发现新的基因改变、追踪克隆进化和确定潜在治疗靶点方面的作用。随着测序技术的不断发展，预计NGS将进一步塑造CML研究的未来，提供关键见解，最终可能优化疾病管理策略。
