Fusion genes arise from gross chromosomal rearrangements and have been closely linked to oncogenesis. In myeloid malignancies, fusion genes play an integral role in the establishment of diagnosis and prognostication. In the clinical management of patients with acute myeloid leukemia, fusion genes are deeply incorporated in risk stratification criteria to guide the choice of therapy. As a result of their intrinsic ability to define specific disease entities, oncogenic fusion genes also have immense potential to be developed as therapeutic targets and disease biomarkers. In the current era of genomic medicine, breakthroughs in innovation of sequencing techniques have led to a rise in the detection of novel fusion genes, and the concept of standard-of-care diagnostics continues to evolve in this field. In this review, we outline the molecular basis, mechanisms of action and clinical impact of fusion genes. We also discuss the pros and cons of available methodologies that can be used to detect fusion genes. To contextualize the challenges encountered in clinical practice pertaining to the diagnostic workup and management of myeloid malignancies with fusion genes, we share our experience and insights in the form of three clinical case studies.
融合基因源于染色体的大规模重排，并与肿瘤发生密切相关。在髓系恶性肿瘤中，融合基因在疾病诊断和预后评估中发挥着不可或缺的作用。在急性髓系白血病患者的临床管理中，融合基因被深度整合至风险分层标准中，以指导治疗策略的选择。由于其能够界定特定疾病实体的内在特性，致癌融合基因还具有作为治疗靶点和疾病生物标志物的巨大潜力。在当今基因组医学时代，测序技术的创新突破推动了新型融合基因检出率的提升，该领域的标准诊疗诊断理念也在持续演进。本综述系统阐述了融合基因的分子基础、作用机制及临床影响，并探讨了现有融合基因检测方法的优势与局限性。为阐明融合基因相关髓系恶性肿瘤在临床诊断评估与管理中面临的挑战，我们通过三个临床病例研究分享了实践经验和见解。
肿瘤(癌症)患者之家