Montgomery Bruce, Wang Sunny, Rettig Matthew, Lee Benson, Bates Jill, Pritchard Colin
Veterans Affairs Puget Sound Health Care System, Seattle, Washington.
University of Washington, Seattle.
Fed Pract. 2022 May;39(Suppl 2):S16-S24. doi: 10.12788/fp.0270. Epub 2022 May 13.
The promise of precision oncology can only be realized when genetic alterations are identified that can be leveraged to improve response and minimize toxicity. Identifying those alterations requires the knowledge to order the right test and to interpret the results correctly. This primer is designed to help clinicians order the appropriate testing for patients with specific malignancies and to give them an informed approach to interpretation.
Germline DNA is usually acquired from peripheral blood, buccal swab, or saliva collection in patients with a metastatic malignancy and can provide treatment options otherwise not available. However, germline testing does not indicate alterations that arise solely in tumor tissue. Somatic testing may be performed on primary tumor, metastatic biopsy, or circulating tumor DNA when the alteration is present at the time that the tumor developed and expected to be carried through the evolution of the tumor.
The rapid growth in technology and ability to enhance understanding of relevant tumor biology continues to improve the therapeutic landscape for individuals dealing with malignancy as does our ability to find targetable genetic alterations with the potential for meaningful clinical benefit.
只有当识别出可用于改善反应并将毒性降至最低的基因改变时，精准肿瘤学的前景才能实现。识别这些改变需要具备订购正确检测项目并正确解读结果的知识。本入门指南旨在帮助临床医生为特定恶性肿瘤患者订购合适的检测项目，并为他们提供一种明智的解读方法。
种系DNA通常从转移性恶性肿瘤患者的外周血、口腔拭子或唾液样本中获取，可为患者提供其他途径无法获得的治疗选择。然而，种系检测并不能显示仅在肿瘤组织中出现的改变。当肿瘤发生时存在某种改变并预期会贯穿肿瘤的发展过程时，可对原发性肿瘤、转移灶活检组织或循环肿瘤DNA进行体细胞检测。
技术的快速发展以及增强对相关肿瘤生物学理解的能力，如同我们发现具有潜在临床意义的可靶向基因改变的能力一样，继续改善着恶性肿瘤患者的治疗前景。
