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
