琥珀酸脱氢酶缺陷型肾癌的临床病理特征

Clinicopathological features of succinate dehydrogenase-deficient renal cell carcinoma

目的探讨琥珀酸脱氢酶(succinate dehydrogenase,SDH)缺陷型肾癌的临床病理特征、诊断及治疗。方法分析SDH缺陷型肾癌的临床病理特征、免疫表型及分子遗传学特征。结果肾肿瘤灶呈实性、灰黄色,质软。镜检见肿瘤边界清楚,细胞排列呈实性、巢状、小管状,细胞质空泡状,胞质内含嗜酸性或浅染的絮状物质,未见核分裂像及坏死。免疫组织化学染色显示PAX8、CK(AE1/AE3)、EMA、P504s均阳性,SDHB阴性。患者组织蜡块全外显子测序结果提示SDHB基因外显子区域发现一处杂合突变。(c.725G>Ap.R242H)。结论SDH缺陷型肾癌发病率罕见,具有特征性的病理组织形态学表现、免疫表型呈特征性的SDHB表达缺失。在临床诊疗过程中,应详细询问患者病情及家族遗传史,必要时进行基因检测明确诊断。

Objective To investigate the clinicopathological features,diagnosis and treatment of succinate dehydrogenase(SDH)–deficient renal cell carcinoma.Methods The clinical and pathological features,immunophenotype and molecular genetic characteristics of SDH-deficient renal cell carcinoma were retrospectively analyzed.Results The kidney tumor was solid,gray-yellow and soft.Microscopic observation showed that the tumor boundary was clear,the cells were arranged in solid,nested,small tubular growth,the cytoplasm was vacuolated,and contained eosinophilic or lightly stained flocculent material,and no mitotic figures and necrosis were seen.Immunohistochemical staining showed that the tumor tissue were positive for PAX8,CK(AE1/AE3),EMA,P504s but negative for SDHB.The whole exon sequencing results of the wax block of the patient’s tissues suggested that a heterozygous mutation was found in the exon region of the SDHB gene.(c.725G>Ap.R242H).Conclusion The incidence of SDH-deficient renal cell carcinoma is rare,with a characteristic pathohistological morphological manifestation and lack of SDHB expression in the immunophenotype.In the clinical diagnosis and treatment process,the patient’s condition and family genetic history should be asked in detail,and genetic testing should be performed to confirm the diagnosis if necessary.