t(6;11)(p21;q12)转录因子EB基因融合相关性肾细胞癌临床病理观察  

t(6;11)(p21;q12) transcription factor EB(TFEB) gene fusion associated renal cell carcinoma

作　　者：闫风彩[1] 石峰[1] 周全[1] 高颖[1] 张继新[1] 昌红[1] 

机构地区：[1]首都医科大学附属北京世纪坛医院病理科,北京100038

出　　处：《诊断病理学杂志》2015年第3期166-169,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨t(6;11)(p21;q12)转录因子EB(TFEB)基因融合相关性肾细胞癌临床病理学特点、诊断与鉴别诊断。方法应用组织学、免疫组化和分子遗传学对1例t(6;11)(p21;q12)TFEB基因融合相关性肾癌进行研究,并复习相关文献。结果肿瘤边界清楚,切面灰黄、灰红色伴出血囊性变。镜下肿瘤由大、小两种细胞构成,大细胞呈巢状、腺泡样,乳头状排列;小细胞围绕透明基质呈特征的"玫瑰花环"样结构,瘤细胞胞质透明,部分嗜酸。免疫组化:TFEB、HMB45和melan A(+)。鉴别诊断主要有TFE3基因融合相关性肾细胞癌及腺泡状软组织肉瘤等。结论 t(6;11)(p21;q12)TFEB基因融合相关性肾细胞癌是一种罕见肿瘤,明确诊断需结合组织学形态、免疫表型及分子生物学检测。Objective To study the clinicopathologic features,diagnosis and differential diagnosis of t（ 6; 11）（ p21;q12） transcription factor EB（ TFEB） gene fusion associated renal cell carcinoma. Methods One case of t（ 6; 11）（ p21; q12） TFEB gene fusion associated renal cell carcinoma was studied with histologic,immunohistochemical and cytogenetic analysis,and relevant literatures were also reviewed. Results Grossly,the tumor was well circumscribed.On cut section,there were gray-yellow and gray-red with hemorrhage and cystic degeneration. Histologically,the tumor was composed of large and small cells,small cells surrounding the transparent substrate was characterized by ＂rosette＂like structure. The cytoplasm was clear and somewhat acidophilia. The tumor cells were positive for TFEB,HMB45,and Melan-A. The main differential diagnoses were renal cell carcinoma with TFE3 fusion gene and alveolar soft tissue sarcoma.Conclusion t（ 6; 11）（ p21; q12） TFEB gene fusion associated renal cell carcinoma is a rare tumor,and correct diagnosis could be made by combination with histology,immunophenotype and molecular biological detection.

关 键 词：肾癌 染色体易位 TFEB FISH 

分 类 号：R737.11[医药卫生—肿瘤]