罕见EpCAM+循环肿瘤细胞/循环肿瘤微栓数目极高的小细胞肺癌1例报告

A Rare Case of Extremely High Counts of EpCAM+Circulating Tumor Cells and Circulating Tumor Microemboli Detected in a Patient with Small Cell Lung Cancer

77岁男性患者,因“全身包块增多、增大1个月”于我院就诊,结合影像学检查结果(计算机断层扫描和磁共振成像)、肺部穿刺活检结果和液体活检结果考虑为左肺上叶小细胞肺癌伴右肺门、纵隔、双侧腋窝、腹腔及腹膜后淋巴结转移,及全身广泛皮下软组织、肝、双侧肾上腺、双肾、脑多发转移(广泛期)。为尽快评估病情发展情况,采用差相富集-肿瘤标志物免疫荧光染色-荧光原位杂交(subtraction enrichment-immunostaining fluorescence in situ hybridization,SEiFISH)技术检测了患者6 mL外周血中的循环肿瘤细胞(circulating tumor cells,CTCs)和循环肿瘤微栓(circulating tumor microemboli,CTM)。本例患者共检出上皮细胞黏附分子(epithelial cell adhesion molecule,EpCAM)阳性CTCs 919个,EpCAM阳性CTM 61个。其中,一倍体为14个(1.52%)、二倍体为788个(85.75%)、三倍体为44个(4.79%)、四倍体为70个(7.62%)、≥五倍体为3个(0.33%)。本报道首次发现1例CTCs和CTM数目极高且肿瘤标志物阳性患者,通过检测CTCs有助于辅助癌症的诊断、预后和治疗评估,有助于制定精准的个体化治疗方案。

A 77-year-old man was admitted at our hospital due to“generalized increase in the number of masses and enlargement of the masses observed for one month”.Combined assessment of the imaging(computed tomography and magnetic resonance imaging)findings and results of lung centesis biopsy and liquid biopsy suggest that the patient had small cell lung cancer of the left upper lobe,with right hilar,mediastinal,bilateral axillary,abdominal and retroperitoneal lymph node metastases,as well as widespread subcutaneous soft tissue,liver,bilateral adrenal,bilateral kidneys and multiple brain metastases(extensive stage).In order to obtain an evaluation of the development of the disease as soon as possible,the circulating tumor cells(CTCs)and circulating tumor microemboli(CTM)in 6 mL peripheral blood were examined by subtraction enrichment-immunostaining fluorescence in situ hybridization(SE-iFISH)technology.A total of 919 epithelial cell adhesion molecule(EpCAM)-positive CTCs and 61 EpCAM-positive CTM were identified.Among them,there were 14 haploid CTCs(1.52%),788 diploid CTCs(85.75%),44 triploid CTCs(4.79%),70tetraploid CTCs(7.62%)and 3 pentaploid or higher-fold polyploid CTCs(0.33%).Herein,we reported a rare case with extremely high accounts of CTCs and CTM and positive findings for tumor markers,which was identified for the first time.The examination of CTCs by SE-iFISH contributed to the diagnosis,prognosis and treatment evaluation of cancer and facilitated the formulation of precise and individualized therapeutic regime.