琥珀酸脱氢酶缺陷型肾细胞癌的临床病理特征

Clinicopathological analysis of succinate dehydrogenase deficient renal cell carcinoma

运用HE染色及免疫组织化学(immunohistochemistry,IHC)等方法分析3例琥珀酸脱氢酶缺陷型肾细胞癌(succinate dehydrogenase-deficient renal cell carcinoma,SDH-deficient RCC)的临床病理特征、免疫表型,并结合相关文献进行综合分析。在3例SDH缺陷型肾细胞癌患者中,男女均有发生,年龄22~48(平均39.33)岁,病变位于左肾1例,右肾2例。其中1例患者发生同一侧肾脏肿块2个,分别位于右肾上极和右肾下极。所有肿瘤大体边界清楚,无明确包膜,边缘呈推挤性生长,切面实性,均质,灰红或灰褐色。镜下观:肿瘤组织结构多样,呈巢状、小管状、腺泡状或实性结构,肿瘤细胞呈多边形或圆形,细胞界限不清楚,细胞质丰富,嗜酸性或透明,细胞质内可见空泡状或包涵体结构,并可见嗜酸性絮状物,细胞核圆形或卵圆形,核膜光滑规则,染色质细腻,核仁不明显,细胞核大小较一致,为低级别核;肿瘤周边可见正常肾小管或肾小球。IHC显示SDH亚单位B(SDHB)抗体表达缺失,肿块周边非肿瘤组织,包括肾小管、血管内皮细胞及炎症细胞均呈阳性表达。3例患者手术治疗后随访2~8个月,均存活。SDH缺陷型肾细胞癌具有典型的病理组织学细胞特征,确诊需要IHC标记证实。

The clinicopathological features and immunophenotype of 3 cases of succinate dehydrogenase deficient renal cell carcinoma(succinate dehydrogenase-deficient renal cell carcinoma,SDH-deficient RCC)were analyzed by HE staining and immunohistochemistry(IHC),and combined with relevant literatures.SDH-deficient renal cell carcinoma occurred both in men and women in 3 cases,with an average age of 39.33 years old,ranging from 22 to 48 years old.The lesion was located in the left kidney in 1 case and in the right kidney in 2 cases.One patient had two renal masses on the same side,located at the upper pole of the right kidney and the lower pole of the right kidney respectively.All tumors are generally well circumscribed,without definite capsule,with pushing growth at the margin,solid section,homogeneous,grayish red or grayish brown.Microscopically,the tumor tissue structure is diverse,with nests,small tubes,acini or solid structures.The tumor cells are polygonal or round,with unclear cell boundaries,abundant cytoplasm,eosinophilic or transparent,vacuolar or inclusion body structures in the cytoplasm.Eosinophilic flocs,round or oval nuclei,smooth and regular nuclear membrane,fine chromatin,inconspicuous nucleoli,and relatively consistent nuclear size as low-grade nuclei are also its presented characteristics.Normal renal tubules or glomeruli can be seen around the tumor.Immunohistochemistry showed that the expression of SDH subunit B(SDHB)antibody was absent,and the surroundings of the mass were non-tumor tissues.Moreover,renal tubules,vascular endothelial cells and inflammatory cells were all positive in expression.Three patients were followed up for 2 to 8 months after surgical treatment and all survived.SDHdeficient renal cell carcinoma has typical histopathological cell characteristics,and its diagnosis needs to be confirmed by immunohistochemical markers.