原发灶不明肿瘤诊疗进展与展望

Progress and prospect of diagnosis and treatment of cancers of unknown primary

原发灶不明肿瘤(cancer of unknown primary,CUP)是一种细胞异质性显著并且具有高度恶性表型的转移性疾病,并且很难通过常规的检查手段被检测出其原发灶。一些新的检测手段,如基因表达谱检测、肿瘤表观遗传学检测、液体活检等手段逐渐应用于CUP原发灶的确定上,基于此出现的器官特异性治疗、靶向治疗、免疫治疗等也均有较大的应用前景,其有望提高CUP患者诊断的精确性和特异性,延长患者生存时间,改善患者生存质量。本文针对CUP的前沿诊断技术和治疗选择及其进展进行综述。

Cancer of unknown primary(CUP)is a metastatic disease with significant cell heterogeneity and a highly malignant phenotype.It is difficult to detect the primary affected sites of CUP using routine medical examinations.Gene expression profiling,tumor epigenetics,and liquid biopsy are gradually being employed to identify the primary sites of CUP.Organ-specific therapy,targeted therapy,and immunotherapy based on these assays may have clinical applicability.They are expected to improve diagnostic accuracy and specificity in patients with CUP and increase their life expectancy.This article reviews the progress and prospect of advanced diagnostic techniques and treatment options for CUP.