CAJ | 학술논문

Xp11.2易位/TFE3基因融合相关性肾癌是近年来才开始被逐渐认识的新肾癌亚型，发病率较低，好发于儿童和青少年，其机制是Xp11.2位点上TFE3基因发生断裂，并与ASPL、PRCC、PSF、CLTC、NonO等相关基因发生平衡易位形成新的融合基因。就目前而言尚无统一的诊断标准，临床资料上主要以易出现肉眼血尿、CT髓质期强化显著为特征，病理诊断主要依靠组织细胞形态以及出现相对特异的砂粒小体、TFE3蛋白免疫组化、荧光原位杂交检测、细胞核型分析等。该肾癌治疗以根治性肾脏切除术为主，靶向药物可以延长晚期患者的生存期。成人患者预后较差，术后的长期随访十分重要。
Xp11.2역위/TFE3기인융합상관성신암시근년래재개시피축점인식적신신암아형，발병솔교저，호발우인동화청소년，기궤제시Xp11.2위점상TFE3기인발생단렬，병여ASPL、PRCC、PSF、CLTC、NonO등상관기인발생평형역위형성신적융합기인。취목전이언상무통일적진단표준，림상자료상주요이역출현육안혈뇨、CT수질기강화현저위특정，병리진단주요의고조직세포형태이급출현상대특이적사립소체、TFE3단백면역조화、형광원위잡교검측、세포핵형분석등。해신암치료이근치성신장절제술위주，파향약물가이연장만기환자적생존기。성인환자예후교차，술후적장기수방십분중요。
Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions are cognized as a new subtype of renal malignancy in recent years, resulted in gene fusion products between the helix-loop-helix leucine zipper transcription factor (TFE3) and the alveolar soft part sarcoma locus (ASPL), along with several other identified genes, including PRCC, PSF, CLTC and NonO. The incidence of renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions is low, mainly influence children and adolescents. For the moment, the diagnosis of this carcinoma has no uniform standards. Hematuria is frequent, CT shows a significant enhancement during medullary period. Characteristic of pathology relies mainly on the cell morphology and psammoma bodies, strong TFE3 immunoreactivity, fluorescence in situ hybridization detection and karyotype analysis. The best choice for the treatment is radical nephrectomy, targeted therapy can prolong patient’s overall survival if it was necessary. Prognosis of this carcinoma is poorer in adults, long-term postoperative follow-up is requisite.