原发灶不明肿瘤的诊断与治疗

The diagnosis and treatment of carcinoma of unknown primary

原发灶不明肿瘤(CUP)是一类异质性肿瘤,具有独特的生物学特性,最常见的病理类型是腺癌。在世界范围内,CUP占所有肿瘤的2.3%~5.0%,不仅是第6~8位常见的癌症,也是导致癌症患者死亡的第3~4位常见原因。CUP原发灶检出困难,主要诊断方法有全面的病史采集、详细的体格检查、实验室及影像学检查、内窥镜、免疫组化和基因表达谱分析技术等,其中病理和免疫组化仍是诊断的金标准。近年来随着诊断技术的发展,CUP发病率已有所下降。CUP患者的预后受多种因素影响,如肿瘤原发部位、转移灶及数目、病理类型、治疗方式、体力状况、乳酸脱氢酶水平等。因其独特的生物学特性,相关临床试验开展困难,CUP患者整体预后不佳,其中15%~20%的CUP患者预后较好,80%~85%的患者预后差,中位生存期不足1年。传统经验性治疗包括以铂类或紫杉醇为基础的化疗、放疗和手术治疗,并不能有效改善患者预后。基因表达谱分析等分子诊断技术可识别CUP患者的分子特征,为组织形态学提供了实用而有效的补充,并使靶向治疗成为可能,开辟了CUP患者治疗的新途径。分子诊断指导下的位点特异性治疗,靶向及免疫治疗有望使CUP的治疗个体化、精准化,利于提高患者的生活质量和生存期。

Carcinoma of Unknown Primary ( CUP) is defined as a heterogeneous group of tumors with unique biological characteristics. Adenocarcinoma is the most common pathology type. CUP is the 6th to 8th most common cancers worldwide, accounting for 2. 3% - 5. 0% of all tumors,and the 3rd to 4th most common cause of death from cancer. The primary site of CUP is difficult to detect. The diagnostic methods include physical examination,laboratory and imaging examination, endoscopies,immunohistochemistry ( IHC) and gene expression profiling techniques ( GEP) . Pathology and IHC are the gold standard of diagnosis. The incidence of CUP has decreased in recent years with the development of diagnostic techniques. The prognosis of CUP patients are affected by various factors,such as the primary site,metastases and number,pathological type,treatment,physical status,and LDH. Due to its unique biological characteristics,the clinical trials are difficult to develop,and the overall prognosis of CUP patients is poor. 15% - 20% of CUP patients have a good prognosis,80% - 85% have a poor prognosis and the median survival is less than 1 year. Traditional empirical treatments include platinum or paclitaxel-based chemotherapy,radiation therapy,and surgery. It does not improve the prognosis of CUP patients. Molecular diagnostic techniques such as GEP can identify the molecular characteristics of CUP patients. Molecular profiling provides a practical and useful complement to histomorphology,making targeted therapy possible and opening up a new approach therapy of CUP. The specific therapy,targeted therapy and immunotherapy under the guidance of molecular diagnosis are expected to make the treatment individualized and precise,which is conducive to improving the quality of life and survival of patients. The diagnosis and therapy of CUP are still controversial at present. This article reviews the common diagnostic methods and treatment of CUP.