University of Glasgow, Institute of Cancer Sciences, Glasgow, UK.
Ann Oncol. 2012 Sep;23 Suppl 10:x271-7. doi: 10.1093/annonc/mds357.
Carcinoma of unknown primary (CUP) remains a common and challenging clinical problem. The aim of diagnostic work-up in CUP is to classify as specifically as possible the cancer affecting the patient, according to the broad tumour type, subtype and, where possible, site of origin. This classification currently best predicts patient outcome and guides optimal treatment. a stepwise approach to diagnostic work-up is described. although pathology is based on morphology, the assessment of tissue-specific genes through immunohistochemistry (IHC) substantially helps tumour classification at each diagnostic step. For IHC in CUP, recent improvements include more standardised approaches and marker panels plus new markers. Tissue-specific genes are also being used in CUP work-up through molecular profiling. Large-scale profiles of hundreds of tumours of different types have been generated, compared and used to generate diagnostic algorithms. Commercial tests for CUP classification have been developed at the mRNa and microRNA and (miRNA) levels and validated in metastatic tumours and CUPs. While currently optimal pathology and IHC remain the 'gold standard' for CUP diagnostic work-up, and full clinical correlation is vital, the molecular tests appear to perform well: in the main diagnostic challenge of undifferentiated or poorly differentiated tumours, molecular profiling performs as well as or better than IHC.
原发灶不明癌（CUP）仍然是一个常见且具有挑战性的临床问题。CUP 诊断工作的目的是根据广泛的肿瘤类型、亚型，并在可能的情况下，根据起源部位尽可能具体地对影响患者的癌症进行分类。这种分类目前能最好地预测患者的预后，并指导最佳治疗。本文描述了一种逐步的诊断工作流程。尽管病理学基于形态学，但通过免疫组织化学（IHC）评估组织特异性基因在每个诊断步骤中都能极大地帮助肿瘤分类。对于 CUP 中的 IHC，最近的改进包括更标准化的方法和标记面板以及新的标记物。通过分子谱分析，也在 CUP 工作流程中使用组织特异性基因。已经生成、比较并用于生成诊断算法的数百种不同类型肿瘤的大规模图谱。已经在 mRNA 和 microRNA （miRNA）水平上开发了用于 CUP 分类的商业测试，并在转移性肿瘤和 CUP 中进行了验证。虽然目前最佳的病理学和 IHC 仍然是 CUP 诊断工作的“金标准”，并且完整的临床相关性至关重要，但分子测试似乎表现良好：在未分化或低分化肿瘤的主要诊断挑战中，分子谱分析的表现与 IHC 一样或更好。
