Renal cell carcinoma associated with XP11.2 translocation: A case report and literature review

Abstract

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.