通讯作者: 李克桑, toney584520@126.com

DOI：10.12201/bmr.202606.00008

Advances in the Diagnosis and Treatment of Cancer of Unknown Primary

• 摘要：不明原发肿瘤(cancer of unknown primary, CUP)是指经组织病理学证实为转移性恶性肿瘤,但通过标准系统检查后仍无法明确原发灶部位的一组异质性疾病,约占所有恶性肿瘤比例的2%-4%。CUP具有侵袭性强、转移早、预后差等临床特征,多数患者中位总生存期仅6–12个月,由于原发灶隐匿,其诊断与治疗策略制定面临较大挑战。在诊断方面,主要依赖病史采集、影像学检查和免疫组织化学,但部分病例仍难以准确推断肿瘤来源。近年来,基因表达谱分析、DNA甲基化检测、下一代测序及其他新兴辅助技术的发展,为原发灶来源预测提供了新手段。在治疗方面,CUP传统上以经验性化疗为主。近年来,基于组织来源推测的部位特异性治疗以及基于分子特征的靶向治疗和免疫治疗在部分研究中显示出潜在应用价值,但总体疗效证据仍有限,尚未在国际范围内达成共识。本文系统综述了CUP诊断与治疗的最新进展,分析当前临床诊治面临的挑战,以期为临床实践和后续研究提供参考。

  关键词： 不明原发肿瘤; 诊断技术; 部位特异性治疗; 分子靶向治疗; 免疫治疗

   

  Abstract: Cancer of unknown primary (CUP) refers to a heterogeneous group of metastatic malignancies confirmed by histopathology in which the primary tumor site remains unidentified despite standard systematic evaluation. CUP accounts for approximately 2%–4% of all malignant tumors. It is characterized by strong invasiveness, early metastasis, and poor prognosis, with a median overall survival of only 6–12 months in most patients. Owing to the occult nature of the primary lesion, the diagnosis and treatment of CUP remain highly challenging. Current diagnostic approaches mainly rely on medical history, imaging examinations, and immunohistochemistry; however, accurate identification of the tumor origin remains difficult in some cases. In recent years, the development of gene expression profiling, DNA methylation analysis, next-generation sequencing, and other emerging technologies has provided novel strategies for predicting the tissue of origin. Traditionally, empirical chemotherapy has been the mainstay of treatment for CUP. More recently, site-specific therapy based on tissue-of-origin prediction, as well as molecular targeted therapy and immunotherapy guided by molecular characteristics, have shown potential clinical value in selected studies. Nevertheless, evidence regarding their overall efficacy remains limited, and no international consensus has yet been established. This review systematically summarizes recent advances in the diagnosis and treatment of CUP and discusses the current challenges in clinical management, with the aim of providing references for future clinical practice and research.

  Key words: Cancer of unknown primary; diagnostic techniques; site-specific therapy; molecular targeted therapy; immunotherapy.

  提交时间：2026-06-03

  版权声明：作者本人独立拥有该论文的版权，预印本系统仅拥有论文的永久保存权利。任何人未经允许不得重复使用。
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• 序号	提交日期	编号	操作
  1	2026-05-10	10.12201/bmr.202606.00008V1	下载

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