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Xp11.2易位/TFE3基因融合相关性肾癌成人病例1例
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Abstract:
Xp11.2易位/TFE3基因融合相关性肾癌是一种非常罕见的肾肿瘤亚型，多发生于儿童，早期即可发生转移。本病主要临床表现包括无痛性肉眼血尿、腹部肿块和患侧腰痛，其中大约三分之一的患者是无症状的。本病的诊断主要依靠组织病理学特征和免疫表型及基因检测，影像学检查较难诊断。本文报道1例成年男性患者的Xp11.2易位/TFE3基因融合相关性肾癌病例。该患者为21岁的成年男性，于入院7天前经查体发现左肾占位，无明显的临床表现。本文通过文献复习Xp11.2易位/TFE3基因融合相关性肾癌的发病机制、流行病学、临床表现、影像学特点、病理学特点、治疗及预后，旨在提高对该病的认识。
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.
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