嗜酸性实性囊性肾细胞癌7例临床及分子病理特征分析

Features of eosinophilic solid and cystic renal cell carcinoma:clinicopathological and molecular analyses of seven cases

目的探讨嗜酸性实性囊性肾细胞癌(eosinophilic solid and cystic renal cell carcinoma,ESC RCC)的临床病理特征、免疫表型、分子病理改变、鉴别诊断及预后。方法收集上海交通大学医学院附属瑞金医院和浙江省宁波市病理诊断中心诊断的7例ESC RCC,回顾性分析其临床病理学特征、免疫表型及分子遗传学改变等,并复习相关文献。结果7例患者中男性4例,女性3例;年龄22~66岁,平均42岁。镜下肿瘤呈境界清楚的实性及囊性结构,肿瘤细胞胞质嗜酸性,部分可见嗜酸性小球,细胞核WHO/ISUP 2级或3级。免疫表型:7例CK20阳性或局灶阳性,CK7、CD117均阴性。5例FISH检测显示均无7号和17号染色体的三倍体,3例男性患者也无Y染色体缺失。对其中2例行石蜡组织全外显子测序,结果显示2例均有TSC1/TSC2突变。结论ESC RCC是非常少见的肾细胞癌类型,其形态学特征、免疫表型及分子改变较为独特,且其生物学行为较惰性。因此,正确认识及诊断该类型肿瘤对患者的治疗方案选择及预后评价具有重要意义。

Purpose To investigate the clinical features,histomorphology,immunophenotype,molecular pathological changes,differential diagnosis and prognosis of eosinophilic solid and cystic renal cell carcinoma(ESC RCC).Methods Seven cases of ESC RCC were collected from Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine and Ningbo Pathological Diagnosis Center.Their clinicopathological features,immunophenotype and molecular changes were retrospectively analyzed,and the literature was reviewed.Results There were 4 males and 3 females with an average age of 42 years(range,22-66 years).Microscopically,the tumor presented solid and cystic structure with clear boundary.The cytoplasm of tumor cells was eosinophilic,and nucleus was WHO/ISUP grade 2 or 3.Immunophenotyping showed CK20 was positive or focal positive in 7 cases,but negative for CK7 and CD117.No triploid of chromosome 7 and 17 was detected by FISH.No Y chromosome deletion was found in the 3 male patients.Two of them were sequenced by whole exon sequencing.The results showed that TSC1/TSC2 mutations were found in both cases.Conclusion ESC RCC is a rare type of renal cell carcinoma.Its morphological characteristics,immunophenotype and molecular changes are unique.Therefore,the correct understanding and diagnosis of this type of tumor is of great significance for the selection of treatment and prognosis evaluation.