Geneis (Beijing) Co., Ltd., Chaoyang District Beijing, People's Republic of China.
Methods Mol Biol. 2020;2204:109-119. doi: 10.1007/978-1-0716-0904-0_10.
The primary site cannot be found after clinical and pathological evaluation, which are called cancers of unknown primary origin (CUP). CUPs may resemble a specific primary tumor site which shares common clinicopathological characteristics and prognosis. However, it may be present as a distinct disease entity with undifferentiated pathological features. More than 4% of patients are diagnosed as CUP. These patients were diagnosed as malignant tumors by cytology or pathology. And they were usually treated with empirical chemotherapy and associated with a poor prognosis. How to accurately diagnose and treat a cancer of unknown primary origin is a major clinical concern. To address this question, a complex assessment is carried out which includes a complete medical history of the patient, physical examination, complete blood count, urinalysis, serum chemistries, histologic evaluation, chest radiograph, computed tomography, magnetic resonance imaging, and immunohistochemistry (IHC) studies. Molecular diagnostic information reflects that CUP's molecular characteristics are similar to primary tumors with the development of genomics and the expansion of gene sequencing technology. Gene expression profiling is the most commonly used molecular diagnostic method for CUP. In this chapter, we summarize the current diagnostic methods and challenges of CUP, and the clinical value of the molecular-level tumor diagnostic technique.
在临床和病理评估后仍无法找到原发病灶，这些癌症被称为原发灶不明的癌症（CUP）。CUP 可能类似于具有共同临床病理特征和预后的特定原发性肿瘤部位。然而，它也可能表现为具有未分化病理特征的独特疾病实体。超过 4%的患者被诊断为 CUP。这些患者通过细胞学或病理学被诊断为恶性肿瘤。他们通常接受经验性化疗治疗，并伴有预后不良。如何准确诊断和治疗原发灶不明的癌症是一个主要的临床关注点。为了解决这个问题，需要进行复杂的评估，包括患者完整的病史、体格检查、全血细胞计数、尿液分析、血清化学、组织学评估、胸部 X 光片、计算机断层扫描、磁共振成像和免疫组织化学（IHC）研究。分子诊断信息反映了 CUP 的分子特征与原发性肿瘤相似，随着基因组学的发展和基因测序技术的扩展，这一特征变得更加明显。基因表达谱分析是 CUP 最常用的分子诊断方法。在本章中，我们总结了 CUP 的当前诊断方法和挑战，以及分子水平肿瘤诊断技术的临床价值。
