Department of Hematology and Oncology, Medical Faculty Mannheim of the Heidelberg University, Mannheim, Germany.
Department of Hematology and Medical Oncology, University Medicine Göttingen, Göttingen, Germany.
Crit Rev Oncol Hematol. 2020 Jul;151:102977. doi: 10.1016/j.critrevonc.2020.102977. Epub 2020 May 12.
At present, hemato-oncologic diagnostics is facing dynamic changes. This applies to the exploration and introduction of novel technologies such as next-generation sequencing or digital droplet PCR for myeloid and lymphatic malignancies in laboratory routine, or liquid biopsy for patients with lymphoid malignancies. Targeted therapies such as FLT3 or IDH1/IDH2 inhibitors for acute myeloid leukemia are entering clinical practice. Thus, the demand for hematologic precision diagnostics both at initial diagnosis and during the course of the disease are equally increasing, and a short turn-around time becomes crucial. NGS expands the armamentarium for minimal residual disease diagnostics, but novel questions arise relating to sensitivity, the appropriate time points of this analysis, or the thresholds triggering therapeutic interventions. In this review article, we summarize some of the most relevant current changes and subsequent challenges for diagnostics in various myeloid and lymphatic malignancies. Future directions of hemato-oncologic diagnostics in the next 5-10 years are highlighted.
目前，血液肿瘤学诊断正面临着动态变化。这适用于在实验室常规中探索和引入新型技术，如用于髓系和淋巴恶性肿瘤的下一代测序或数字液滴 PCR，或用于淋巴恶性肿瘤患者的液体活检。针对急性髓系白血病的 FLT3 或 IDH1/IDH2 抑制剂等靶向治疗正在进入临床实践。因此，在初始诊断和疾病过程中对血液学精准诊断的需求同样在增加，而较短的周转时间变得至关重要。NGS 扩大了微小残留病诊断的手段，但新的问题出现了，涉及到敏感性、进行这种分析的适当时间点，或触发治疗干预的阈值。在这篇综述文章中，我们总结了各种髓系和淋巴恶性肿瘤诊断中一些最相关的当前变化和随后的挑战。突出了未来 5-10 年内血液肿瘤学诊断的发展方向。
