Precision Oncology: Who, How, What, When, and When Not?
Precision Oncology: Who, How, What, When, and When Not?
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DOI：
10.14694/edbk_174176
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发表时间：
2017-01-01
期刊：
影响因子：
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通讯作者：
Schrag, Deborah
中科院分区：
文献类型：
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作者：
Schwartzberg, Lee;Kim, Edward S;Schrag, Deborah
精确肿瘤学，定义为肿瘤的分子谱分析，以确定靶向改变，正在迅速发展，并已进入临床实践的主流。基因组检测涉及许多利益相关者以协调一致的方式工作，将高质量的组织样本提供给高质量的实验室，在那里，适当的下一代测序（NGS）分子分析会产生可操作的结果。临床医生应熟悉实验室报告的基因组变异类型和用于确定结果的技术，包括当前检测方法和报告的局限性。基因组结果的解释最好与多学科的投入，以减少不确定性的临床建议有关的文件的变异。非小细胞肺癌已成为一种原型疾病，其中来自至少几种经批准的靶向药物的有据可查的改变的基因组数据对于晚期疾病诊断的最佳治疗至关重要。由于对靶向治疗的耐药性的发展，肿瘤的重新检查和重新检测，包括在临床进展后使用液体活检技术，可能对做出治疗决定很重要。分子谱分析的价值取决于避免充分记录的变异靶向药物对的利用不足和过度利用没有证明益处的变异药物治疗。随着技术的发展和成本效益的提高，分子检测的使用可能会增加更多的特异性，并改善更多患者的预后。
Precision oncology, defined as molecular profiling of tumors to identify targetable alterations, is rapidly developing and has entered the mainstream of clinical practice. Genomic testing involves many stakeholders working in a coordinated fashion to deliver high-quality tissue samples to high-quality laboratories, where appropriate next-generation sequencing (NGS) molecular analysis leads to actionable results. Clinicians should be familiar with the types of genomic variants reported by the laboratory and the technology used to determine the results, including limitations of current testing methodologies and reports. Interpretation of genomic results is best undertaken with multidisciplinary input to reduce uncertainty in clinical recommendations relating to a documented variant. Non-small cell lung cancer has emerged as a prototype disease where genomic data from at least several well-documented alterations with approved targeted agents are essential for optimal treatment from diagnosis of advanced disease. Due to the development of resistance to targeted therapies, resampling and retesting of tumors, including using liquid biopsy technology after clinical progression, may be important in making treatment decisions. The value of molecular profiling depends on avoiding both underutilization for well-documented variant target-drug pairs and overutilization of variant-drug therapy without proven benefit. As techniques evolve and become more cost effective, the use of molecular testing may prove to add more specificity and improve outcomes for a larger number of patients.