琥珀酸脱氢酶缺陷型肾细胞癌的临床病理特征

The clinicopathologic features of the cases of succinate dehydrogenase-deficient renal cell carcinoma

目的探讨琥珀酸脱氢酶缺陷型肾细胞癌(SDH-deficient RCC)的临床病理特征。方法应用免疫组织化学EnVision二步法检测214例肾细胞癌(RCC)患者肿瘤组织中琥珀酸脱氢酶各亚单位(包括SDHA、SDHB、SDHC及SDHD,统称为SDHx)的蛋白表达情况,筛选出SDH-deficient RCC病例,进一步分析其临床病理特征。结果214例RCC中,SDHx表达缺陷(阴性)共7例,占3.3%(7/214)。其中,男2例,女5例,男:女=1:2.5,女性偏多;年龄41~77岁(中位年龄及平均年龄均为56岁);肿瘤位于左肾3例,右肾4例。其中,SDHA蛋白表达缺陷(阴性)2例,占0.9%(2/214);SDHB蛋白表达缺陷(阴性)3例,占1.4%(3/214);SDHC及SDHD蛋白表达缺陷(阴性)各1例,各占0.5%(1/214)。7例SDHx缺陷型病例具有以下病理特征:(1)透明细胞性肾细胞癌5例、嫌色细胞肾细胞癌及乳头状肾细胞癌各1例;(2)肿瘤细胞呈圆形或多边形,胞质透明或嗜酸性,胞质内可见嗜酸性絮状物;(3)肿瘤细胞Fuhrman核分级低者较多(包括I级和Ⅱ级共5例)。其余207例RCC病例,SDHx蛋白表达均为阳性。结论SDH-deficient RCC具有独特的临床病理特征,多为低级别核,以透明细胞性肾细胞癌多见。

Objective To investigate the clinicopathologic features of the cases of succinate dehydrogenase -deficient renal cell carcinoma(SDH-deficient RCC).Methods The EnVision method was used in 214 cases of RCC immunohistochemically and the cases of SDH-deficient RCC were further screened and analyzed for clinicopathologic features.Results 7 SDH-deficient(negative)RCC cases were found in 214 cases of RCC(3.3%,7/214).Among the 7 cases,female had higher proportion(female∶male=5∶2).The patients ranged in age from 41 to 77 years old(median=56 years old,mean=56 years old).Three cases had tumor located in left kidney and 4 cases had tumor in the right.Among the 7 cases of SDH-deficient RCC,2(0.9%,2/214)cases were found negative with SDHA,3(1.4%,3/214)cases were found negative with SDHB,1(0.5%,1/214)SDHC-deficient(negative)RCC and 1(0.5%,1/214)SDHD-deficient(negative)RCC were also found.The unique pathological characteristics of the 7 cases were as following:5 cases were clear cell renal cell carcinomas with low grade nuclei,1 was chromophobe cell renal cell carcinoma and the last one was papillary renal cell carcinoma;the tumor cells were round or polygonal with clear or eosinophilic cytoplasm and cytoplasmic eosinophilic flocculent material could be seen;5 cases belonged to Fuhrman I and Ⅱ.The positive expression of SDHx was found in the left 207 cases.Conclusions SDH-deficient RCC has distinctive clinicopathologic characteristics,and most of them belong to clear cell renal cell carcinoma with low grade nuclei.