Zeidan Amer M, Loghavi Sanam
Department of Internal Medicine, Yale School of Medicine, Yale University, New Haven, CT, USA.
Department of Hematopathology, MD Anderson Cancer Center, Houston, TX, USA.
Blood Lymphat Cancer. 2025 Jun 21;15:39-45. doi: 10.2147/BLCTT.S543541. eCollection 2025.
In the first episode of the , titled , experts from Yale Cancer Center and MD Anderson Cancer Center describe the evolving landscape of molecular diagnostics in acute myeloid leukemia (AML). The discussion traces the shift from morphology- and immunophenotype-based classification to genomics-driven stratification, catalyzed by advancements in next-generation sequencing (NGS). Discussants emphasize the clinical importance of identifying key genetic mutations-such as , and -to inform prognosis and guide use of targeted therapies. They review the sensitivity and applications of testing modalities including Sanger sequencing, NGS, PCR, and capillary electrophoresis, and highlight how combining DNA and RNA analyses enhances detection of both mutations and gene fusions. Practical insights are offered on assay selection, test interpretation, and turnaround times, noting that while NGS is generally adequate for most targets, single-gene PCR may be needed for urgent decision-making. The episode concludes by underscoring the need for oncologists to partner with pathologists and review test coverage data to ensure appropriate molecular profiling. These insights support the integration of precise molecular diagnostics into routine AML management, enhancing personalized therapy and improving clinical outcomes.
在名为《 》的系列节目的第一集中，耶鲁癌症中心和MD安德森癌症中心的专家描述了急性髓系白血病（AML）分子诊断不断演变的格局。讨论追溯了从基于形态学和免疫表型的分类向由下一代测序（NGS）进展催化的基因组学驱动分层的转变。讨论者强调识别关键基因突变（如 、 和 ）对告知预后和指导靶向治疗使用的临床重要性。他们回顾了包括桑格测序、NGS、PCR和毛细管电泳在内的检测方法的灵敏度和应用，并强调结合DNA和RNA分析如何增强对突变和基因融合的检测。提供了关于检测方法选择、检测结果解读和周转时间的实用见解，指出虽然NGS通常足以检测大多数靶点，但紧急决策可能需要单基因PCR。该集节目最后强调肿瘤学家需要与病理学家合作并审查检测覆盖数据，以确保进行适当的分子分析。这些见解支持将精确分子诊断整合到AML常规管理中，加强个性化治疗并改善临床结果。
