Mandefro Befikad, Berta Dereje Mengesha, Kelem Amanuel, Teketelew Bisrat Birke, Melkamu Abateneh, Much Yalew, Mulatie Zewdu, Adane Tiruneh
Department of Medical Laboratory Sciences, College of Medicine and Health Sciences, Debre Berhan University, Debre Berhan, Ethiopia.
Department of Hematology and Immunohematology, School of Biomedical and Laboratory Sciences, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Discov Oncol. 2025 Aug 11;16(1):1525. doi: 10.1007/s12672-025-03169-9.
Advanced diagnostic technologies are driving precision medicine to revolutionize the field of hemato-oncology, that enable personalized treatments based on detailed molecular and genetic profiles. Innovations like next-generation sequencing, digital PCR, and liquid biopsies have reshaped diagnosis, classification, and treatment decisions in hematologic cancers such as leukemia, lymphoma, and myeloma. Each technology offers unique strengths NGS provides broad mutational insights, digital PCR enables ultra-sensitive measurable residual disease detection, and flow cytometry delivers rapid, accessible analysis while also facing specific limitations. This review explores how these tools collectively improve early detection, prognostication, and tailored therapy, enhancing patient outcomes. However, challenges persist, including tumor clonal diversity, microenvironmental influences, and unequal access due to cost and regulatory barriers. Future progress hinges on integrating multi-omics data, enhancing diagnostic accuracy, and expanding accessibility to fully harness personalized hemato-oncology, paving the way for more effective, individualized treatments and improved survival.
先进的诊断技术正在推动精准医学变革血液肿瘤学领域,这些技术能够基于详细的分子和基因图谱实现个性化治疗。新一代测序、数字PCR和液体活检等创新技术重塑了白血病、淋巴瘤和骨髓瘤等血液系统癌症的诊断、分类和治疗决策。每种技术都有其独特优势——NGS提供广泛的突变见解,数字PCR能够进行超灵敏的可测量残留疾病检测,流式细胞术可实现快速、便捷的分析,但同时也面临特定的局限性。本综述探讨了这些工具如何共同改善早期检测、预后评估和精准治疗,从而提高患者的治疗效果。然而,挑战依然存在,包括肿瘤克隆多样性、微环境影响以及由于成本和监管障碍导致的获取不平等。未来的进展取决于整合多组学数据、提高诊断准确性以及扩大可及性,以充分利用个性化血液肿瘤学,为更有效、个性化的治疗和提高生存率铺平道路。