Alsaikhan Bader, AlHussayen Saud, Almajed Ebtesam, Alghuraibi Abdullah, Almodeth Khaled, Al Oudah Noura, Alabdulsalam Abdulrahman K
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Department of Surgery, Division of Urology, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Urol Case Rep. 2025 May 1;61:103057. doi: 10.1016/j.eucr.2025.103057. eCollection 2025 Jul.
Renal cell carcinoma (RCC) associated with XP11.2 translocation is an exceedingly rare subtype of RCC. A 27-year-old female presented with a 6.7cm mass and underwent a robotic-assisted left radical nephrectomy with uneventful recovery. Pathology revealed clear cell carcinoma with papillary and glandular features, positive for Melan-A, consistent with MIT family translocation renal cell carcinoma. The infrequent occurrence and its nonspecific clinical and radiological presentation results in a considerable diagnostic challenge. Given the potentially more aggressive behavior of Xp11.2 translocation RCC, particularly in adults, a thorough understanding of the tumor's genetic profile is critical for optimizing patient management and improving outcomes.
与XP11.2易位相关的肾细胞癌（RCC）是一种极其罕见的RCC亚型。一名27岁女性患者，有一个6.7厘米的肿块，接受了机器人辅助下的左肾根治性切除术，术后恢复顺利。病理显示为具有乳头和腺管特征的透明细胞癌，Melan-A呈阳性，符合MIT家族易位性肾细胞癌。其罕见的发生率及其非特异性的临床和影像学表现带来了相当大的诊断挑战。鉴于Xp11.2易位性RCC可能具有更具侵袭性的行为，尤其是在成年人中，全面了解肿瘤的基因谱对于优化患者管理和改善治疗结果至关重要。
