Comprehensive biomarker profiles in hematological malignancies: improving diagnosis, prognosis, and treatment

血液系统恶性肿瘤的综合生物标志物谱:改善诊断、预后和治疗

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Abstract

Hematological malignancies present substantial challenges in clinical practice due to their heterogeneity and complex biological profiles. In these diseases, biomarkers - measurable indicators of biological states - are indispensable for diagnosis, prognosis, and therapeutic decision-making. Emerging biomarkers are significantly improving outcomes in hematological cancers by enhancing early detection, refining prognostic assessments, enabling personalized treatment approaches, and optimizing overall patient management. This progress translates into better clinical outcomes and more effective strategies to treat and manage malignancies. The field of biomarker discovery has developed from basic morphological and cytogenetic markers to advanced molecular techniques, including polymerase chain reaction (PCR) and next-generation sequencing (NGS), which have significantly enhanced diagnostic accuracy and led to the development of targeted therapies. Additionally, the recent advent of technologies like mass spectrometry and single-cell RNA sequencing enables comprehensive molecular profiling and reveals novel biomarkers that were previously undetectable. Our aim in this manuscript is to provide a comprehensive overview of recent and novel immunohematological biomarkers, their diagnostic and therapeutic applications, and the future directions of this field.

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