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作者

谢尚桓 徐志鹏 王建宁 陈 聪 綦黄鹏

作者单位

山东大学齐鲁医学院，山东 济南 山东第一医科大学第一附属医院，山东 济南

刊名

Advances in Clinical Medicine

年份

2023

卷号

Vol.13 No.5

页码

8014-8019

ISSN

2161-8712

关键词

肾癌 TFE3 免疫组化 荧光原位杂交 靶向治疗 Kidney Cancer TFE3 Immunohistochemistry Fluorescence in Situ Hybridization Targeted Therapy

摘要

Xp11.2 translocation/TFE3 gene fusion-associated renal carcinoma is a rare RCC subtype, which oc-curs mostly in children and can metastasize early. The main clinical manifestations of this disease include painless gross hematuria, abdominal mass, and low back pain on the affected side. About a third of patients are asymptomatic. The diagnosis of this disease mainly depends on histopatholog-ical features, immunophenotype, and genetic testing, while imaging examination is difficult to di-agnose. I...更多

Xp11.2 translocation/TFE3 gene fusion-associated renal carcinoma is a rare RCC subtype, which oc-curs mostly in children and can metastasize early. The main clinical manifestations of this disease include painless gross hematuria, abdominal mass, and low back pain on the affected side. About a third of patients are asymptomatic. The diagnosis of this disease mainly depends on histopatholog-ical features, immunophenotype, and genetic testing, while imaging examination is difficult to di-agnose. In this article, one case of Xp11.2 translocation/TFE3 gene fusion-associated renal carcino-ma was reported. The patient was a 21-year-old man who revealed a left kidney occupied by ultra-sound for seven days. No other notable clinical symptoms were identified. In this article, literature review was performed to investigate the pathogenesis, epidemiology, clinical manifestations, imag-ing features, pathological features, treatment, and prognosis of Xp11.2 translocation/TFE3 gene fu-sion-associated renal carcinoma, and summarize the diagnosis and treatment experience of this case.收起

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