The Methodist Hospital, 6565 Fannin Street, MS205, Houston, TX 77030, USA.
Arch Pathol Lab Med. 2010 Feb;134(2):216-24. doi: 10.5858/134.2.216.
Tumors of uncertain or unknown origin are estimated to constitute 3% to 5% of all metastatic cancer cases. Patients with these types of tumors show worse outcomes when compared to patients in which a primary tumor is identified. New molecular tests that identify molecular signatures of a tissue of origin have become available.
To review the literature on existing molecular approaches to the diagnosis of metastatic tumors of uncertain origin and discuss the current status and future developments in this area.
Published peer-reviewed literature, available information from medical organizations (National Comprehensive Cancer Network), and other publicly available information from tissue-of-origin test providers and/or manufacturers.
Molecular tests for tissue-of-origin determination in metastatic tumors are available and have the potential to significantly impact patient management. However, available validation data indicate that not all tests have shown adequate performance characteristics for clinical use. Pathologists and oncologists should carefully evaluate claims for accuracy and clinical utility for tissue-of-origin tests before using test results in patient management. The personalized medicine revolution includes the use of molecular tools for identification/confirmation of the site of origin for metastatic tumors, and in the future, this strategy might also be used to determine specific therapeutic approaches.
来源不明或未知的肿瘤估计占所有转移性癌症病例的 3%至 5%。与确定了原发性肿瘤的患者相比，这些类型的肿瘤患者的预后更差。已经出现了新的分子测试，可以识别组织来源的分子特征。
回顾现有用于诊断来源不明的转移性肿瘤的分子方法的文献，并讨论该领域的现状和未来发展。
已发表的同行评议文献、来自医疗组织（国家综合癌症网络）的可用信息，以及来自组织来源测试供应商和/或制造商的其他公开可用信息。
用于确定转移性肿瘤组织来源的分子测试已经可用，并且有可能对患者管理产生重大影响。然而，现有验证数据表明，并非所有测试都表现出足够的临床应用性能特征。在将测试结果用于患者管理之前，病理学家和肿瘤学家应仔细评估组织来源测试的准确性和临床实用性的声明。个性化医疗革命包括使用分子工具来识别/确认转移性肿瘤的起源部位，未来，这种策略也可能用于确定特定的治疗方法。
