Xia Q Y, Wang X, Wei X, Wang X T, Ma H H, Lu Z F, Rao Q
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
Zhonghua Bing Li Xue Za Zhi. 2019 Nov 8;48(11):840-845. doi: 10.3760/cma.j.issn.0529-5807.2019.11.002.
To study the clinicopathological features, immunohistochemical phenotype, molecular changes, differential diagnosis and prognosis of eosinophilic solid and cystic renal cell carcinoma (ESC RCC). A total of 15 cases were selected from 2005 to 2019 at Nanjing Jinling Hospital,Nanjing University School of Medicine for clinicopathological and immunohistochemical analysis, 10 of which were subject to cancer-associated mutation analysis using targeted next-generation sequencing (NGS) panel. A literature review was also performed. The patients' ages ranged from 15 to 68 years (mean, 33 years). The male-to-female ratio was 1.1∶1.0. During a mean follow-up of 22 months, none of the patients developed tumor recurrence, progression or metastasis. Histologically, the tumors typically demonstrated solid and cystic architectures and the neoplastic cells contained voluminous eosinophilic cytoplasm with prominent granular cytoplasmic stippling. Immunohistochemically, tumor cells in all cases were immunoreactive for CK20. Signal pathway related protein mTOR and S6 were positive in 14/15 and 6/15 cases, respectively. Cathepsin K, Melan A and HMB45 were at least focally positive in 12/15, 6/15 and 2/15 cases, respectively. CK7 and CD10 showed focal immunostain positivity in some cases, while TFE3, TFEB, CA9 and CD117 were negative in all cases. NGS demonstrated TSC1/TSC2 mutations in all tested cases (10/10). ESC RCC is a rare tumor that tends to occur in young patients with an indolent behavior. Diagnosis can be established by its distinct clinical and histopathologic findings, immunohistochemical phenotype and molecular genetics. The tumor may be considered as a new subtype of RCC.
研究嗜酸性实性和囊性肾细胞癌(ESC RCC)的临床病理特征、免疫组化表型、分子改变、鉴别诊断及预后。选取2005年至2019年南京大学医学院附属南京金陵医院的15例患者进行临床病理及免疫组化分析,其中10例采用靶向二代测序(NGS) panel进行癌症相关突变分析。同时进行文献复习。患者年龄15至68岁(平均33岁),男女比例为1.1∶1.0。平均随访22个月,无患者出现肿瘤复发、进展或转移。组织学上,肿瘤通常表现为实性和囊性结构,肿瘤细胞含有大量嗜酸性细胞质,伴有明显的颗粒状细胞质斑点。免疫组化方面,所有病例的肿瘤细胞对CK20均呈免疫反应性。信号通路相关蛋白mTOR和S6分别在14/15和6/15例中呈阳性。组织蛋白酶K、Melan A和HMB45分别在12/15、6/15和2/15例中至少局灶性阳性。CK7和CD10在部分病例中呈局灶性免疫染色阳性,而TFE3、TFEB、CA9和CD117在所有病例中均为阴性。NGS显示所有检测病例(10/10)均存在TSC1/TSC2突变。ESC RCC是一种罕见肿瘤,倾向于发生在行为惰性的年轻患者中。可通过其独特的临床和组织病理学表现、免疫组化表型及分子遗传学来确诊。该肿瘤可被视为肾细胞癌的一种新亚型。