Sarah Cannon Cancer Center and Research Institute, Tennessee Oncology, PLLC, 250 25th Avenue North Suite 100, Nashville, TN, 37203, USA,
Curr Treat Options Oncol. 2013 Dec;14(4):634-42. doi: 10.1007/s11864-013-0257-1.
Cancer of unknown primary site (CUP) is a clinicopathologic syndrome consisting of many types of cancer and accounting for approximately 3 % of all patients with advanced cancers. This syndrome has frustrated patients and physicians for decades, because a primary site or tissue of origin has not been possible to identify clinically, despite the presence of metastatic tumor. Favorable subsets (approximately 20 % of all CUP) with a presumptive occult primary site have been recognized for several decades based on clinical and standard pathologic features; site-specific therapy in these patients improves their survival compared with the majority of other (approximately 80 %) CUP patients. These other patients, most with adenocarcinomas, have been difficult to treat because the tissue of origin was unknown. Broad-spectrum empiric chemotherapy became the standard approach for these patients in the past 30 years. More recently, new diagnostic technology (evolving immunohistochemistry and emergent gene-expression profiling) has enabled us to establish accurately a tissue of origin in most (90 %+) CUP patients. Gene-expression profiling assays complement standard pathology and for the majority of biopsy specimens accurately identify the primary site or tissue of origin; clinical studies have supported the value of site-directed therapy. When the tissue of origin is in doubt after standard pathologic examination, a gene expression assay is frequently diagnostic, and the outcome of many CUP patients is improved with site-specific therapy. The era of empiric therapy has ended in favor of site-specific therapy, based on the precise diagnosis of the tumor type present in each patient.
原发灶不明的癌症（CUP）是一种临床病理综合征，包含多种癌症，约占所有晚期癌症患者的 3%。几十年来，这种综合征一直令患者和医生感到沮丧，因为尽管存在转移性肿瘤，但临床仍无法确定原发灶或组织来源。根据临床和标准病理特征，几十年来，人们已经认识到具有假定隐匿性原发灶的有利亚组（约占所有 CUP 的 20%）；这些患者的特定部位治疗可改善其生存，而大多数其他（约 80%）CUP 患者的生存则较差。这些其他患者（大多数为腺癌）由于来源组织未知，难以治疗。在过去的 30 年中，广谱经验性化疗已成为这些患者的标准治疗方法。最近，新的诊断技术（不断发展的免疫组织化学和新兴的基因表达谱分析）使我们能够在大多数（90%+）CUP 患者中准确确定组织来源。基因表达谱分析检测方法补充了标准病理学，并且对于大多数活检标本，可准确识别原发部位或组织来源；临床研究支持了针对特定部位的治疗的价值。在标准病理检查后对组织来源有疑问时，基因表达检测通常具有诊断价值，许多 CUP 患者的预后因针对特定部位的治疗而得到改善。基于对每位患者所患肿瘤类型的精确诊断，经验性治疗时代已经结束，转而采用针对特定部位的治疗。
