目的 探讨透明细胞乳头状肾细胞肿瘤（CCPRCT）的临床、病理特征,诊断及鉴别诊断以提高对该肿瘤的认识。方法 对4例CCPRCT患者的临床资料、组织病理形态、免疫组织化学及分子检测结果进行回顾性分析,随访并复习文献。结果 4例患者男2例、女2例,年龄39~73岁,其中1例有终末期肾病史。肿块最大径1~3.5 cm,界清,呈实性或囊实性,色泽灰白、灰黄、灰红相间。光镜下肿瘤细胞排列成管状、乳头状、腺泡状或囊状等,比例不等,肿瘤细胞体积较小,呈立方形,具有透明的胞质,WHO/国际泌尿病理学会（ISUP）核分级1~2级,可见特征性的胞核远离基底膜整齐地排列于腔缘的现象,均未出现肾窦侵犯、脉管侵犯、凝固性坏死等侵袭性肿瘤的特征。免疫表型：肿瘤细胞阳性表达细胞角蛋白（CK）7、碳酸酐酶（CA）Ⅸ、广谱细胞角蛋白（pCK）AE1/AE3、波形蛋白,部分表达CD10,均不表达P504S、CD117、TFE3。荧光原位杂交未检测到3p缺失。3例获得随访,时间8~78个月,均无肿瘤复发转移。结论 CCPRCT是一种少见的肾肿瘤,具有较好的临床预后,需与常见的低级别透明细胞性肾细胞癌和乳头状肾细胞癌鉴别,准确诊断可提高患者的生存质量。

Objective To investigate the clinical and pathological characteristics, diagnosis, and differential diagnosis of clear cell papillary renal cell tumour （CCPRCT）, aiming to enhance the understanding of this tumour. Methods Clinical data, histopathological patterns, immunohistochemical and molecular assay results of four patients with CCPRCT were retrospectively analysed, followed up and reviewed in the literature. Results The study included four patients, two males and two females, aged between 39 and 73 years. One of the patients had a history of end-stage renal disease. The masses observed had a maximum diameter ranging from 1 to 3.5 cm, were well-defined, either solid or cystic, and had a color ranging from grayish-white to grayish-yellow and grayish-red. Under the light microscope, the tumour cells were arranged in tubular, papillary, vesicular or cystic shapes with varying proportions. The tumour cells were small and cubic with transparent cytoplasm. The World Health Organization/International Society of Urological Pathology （WHO/ISUP） nuclear grading was 1-2 for the tumour cells, and the characteristic nuclei were neatly arranged at the lumen edge away from the basement membrane. There was no renal sinus invasion, vascular invasion, coagulation necrosis, or other aggressive tumour features. The immunophenotypes of the tumour cells were positive for cytokeratin （CK）7, carbonic anhydrase （CA）Ⅸ, pan-cytokeratin （panCK） AE1/AE3 and vimentin, partially positive for CD10, and negative for P504S, CD117 and TFE3. The fluorescence in situ hybridization did not show any 3p deletion. Follow-up was conducted on three cases for 8-78 months, and none of them experienced tumour recurrence or metastasis. Conclusion CCPRCT is a rare renal tumour with a good clinical prognosis. It is important to differentiate it from common low-grade clear cell renal cell carcinoma and papillary renal cell carcinoma. Accurate diagnosis can improve the quality of patients' survival.