目的 探讨低级别嗜酸细胞性肾肿瘤(low-grade oncocytic tumor of kidney,LOT)的临床病理特征、免疫表型、分子改变及鉴别诊断,同时寻找敏感的客观指标辅助诊断.方法 收集14例LOT的临床病理资料,行光镜观察、免疫组化染色等,其中8例送检了高通量靶向基因突变检测.结果 14例中男性4例,女性10例,年龄46～88岁,中位年龄57.5岁,平均61.1岁,平均随访6～90个月,1例患者肿瘤复发,其余无瘤生存;镜下肿瘤以实性片状、小巢状结构为主,常兼有大片出血与疏松水肿区域;胞质嗜酸性、细颗粒状,细胞核圆,核仁不明显,常见核周空晕,不易见核皱缩、核多形.免疫表型:LOT免疫表型一致性较好,所有病例均呈现经典的CK7+/CD117-表型(14/14,100％);CD10、CK20、vimentin均呈阴性(0/14,0);Ki67增殖指数1％～3％;此外,新提出的鉴别抗体GPNMB(14/14,100％)弥漫强阳性;GATA3(14/14,100％)至少部分区域中等程度核阳性.高通量测序:8例送检NGS测序,均有MTOR或TSC1基因致病性/可能致病性突变(7例有MTOR基因突变,1例有TSC1基因突变).结论 LOT是一种低级别嗜酸性肿瘤,具有可辨识的形态学特点和免疫表型、分子特征,偏向惰性生物学行为,是一种独立的嗜酸性肿瘤亚型.
Low-grade oncocytic tumour of kidney:a clinicopathological analysis of 14 cases
Purpose To explore the clinicopathological features,immunohistochemical phenotypes,molecular altera-tions and differential diagnosis of low-grade oncocytic tumour of kidney(LOT),as well as to find sensitive objective indicators to assist diagnosis.Methods Fourteen cases of LOT in the De-partment of Pathology,the General Hospital of the PLA Eastern Theatre from 2016-2021 were reviewed and screened for clini-copathological data,with light microscopy and immunohisto-chemical staining,and 8 of them were sent for high-throughput targeted gene mutation detection.Results The patients were 4 males and 10 females,aged 46-88 years,with a median age of 57.5 years and a mean age of 61.1 years.A mean follow-up of 6-90 months showed that 1 patient had tumour recurrence,and the rest had disease-free survival.Microscopically,the tumors were predominantly present with solid lamellar and small nested structures,often accompanied by large areas of hemorrhage and loose edema.The cytoplasm was eosinophilic and finely granu-lar;The nucleus was round with inconspicuous nucleolus;The perinuclear halo was commonly found,and it was not easy to see the nuclear crumpling and nuclear polymorphism.Immunohisto-chemically,the immunological consistency of LOT was good,and all cases presented the classical CK7-/CD117-phenotype(14/14,100％);CD10,CK20,and vimentin were negative(0/14,0).Ki67 positive index was 1％-3％;In addition,the newly proposed discriminatory antibody GPNMB(14/14,100％)was diffusely strongly positive;GATA3(14/14,100％)was moderately nuclear positive in at least some regions.High-throughput sequencing showed that all the eight cases sent for NGS sequencing had pathogenic/probably pathogenic muta-tions in the MTOR or TSC1 genes(seven cases had mutations in the MTOR gene and one case had a mutation in the TSC1 gene).Conclusion LOT is a low-grade eosinophilic tumor with recognisable morphological features and immunological and molecular characteristics,tended to inert biological behavior,and a separate subtype of eosinophilic tumors.
low-grade oncocytic tumour of kidneyclinical pa-thologyimmunohistochemistryNGS sequencing
万方数据
维普
