Department of Histopathology, St Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
Department of Medical Oncology, Mater Misericordiae University Hospital, Dublin 7, Ireland.
Cancer Metastasis Rev. 2023 Dec;42(4):1189-1200. doi: 10.1007/s10555-023-10101-6. Epub 2023 Jul 3.
Carcinoma of unknown primary (CUP) is a heterogeneous group of metastatic cancers in which the site of origin is not identifiable. These carcinomas have a poor outcome due to their late presentation with metastatic disease, difficulty in identifying the origin and delay in treatment. The aim of the pathologist is to broadly classify and subtype the cancer and, where possible, to confirm the likely primary site as this information best predicts patient outcome and guides treatment. In this review, we provide histopathologists with diagnostic practice points which contribute to identifying the primary origin in such cases. We present the current clinical evaluation and management from the point of view of the oncologist. We discuss the role of the pathologist in the diagnostic pathway including the control of pre-analytical conditions, assessment of sample adequacy, diagnosis of cancer including diagnostic pitfalls, and evaluation of prognostic and predictive markers. An integrated diagnostic report is ideal in cases of CUP, with results discussed at a forum such as a molecular tumour board and matched with targeted treatment. This highly specialized evolving area ultimately leads to personalized oncology and potentially improved outcomes for patients.
原发灶不明癌（CUP）是一组异质性的转移性癌，其起源部位无法确定。由于这些癌症晚期出现转移疾病，原发部位难以确定，治疗延迟，因此预后较差。病理学家的目标是广泛分类和亚型癌症，并在可能的情况下确认可能的原发部位，因为这些信息可以最好地预测患者的预后并指导治疗。在这篇综述中，我们为病理学家提供了有助于识别此类病例原发部位的诊断实践要点。我们从肿瘤学家的角度介绍了目前的临床评估和管理。我们讨论了病理学家在诊断途径中的作用，包括控制分析前条件、评估样本充足性、癌症诊断（包括诊断陷阱）以及评估预后和预测标志物。在 CUP 病例中，理想的是采用综合诊断报告，在分子肿瘤委员会等论坛上讨论结果，并与靶向治疗相匹配。这个高度专业化的不断发展的领域最终导致了个体化肿瘤学，并有可能改善患者的预后。
