Objective To explore the clinical features of Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma (Xp11.2 RCC) and its diagnosis as well as treatment.
Methods The clinical data of two adult patients with Xp11.2 RCC was retrospectively analyzed, including the clinical manifestations, imaging features, diagnosis and treatment of this type of renal carcinoma.
Results Both cases were male, aged 76 years and 21 years respectively, with no obvious specific clinical manifestations, and the pathological results after laparoscopic radical nephrectomy indicated Xp11.2 RCC. The two cases were followed up for 7 and 19 months, respectively. The postoperative recovery and prognosis were good, and no tumor recurrence and metastasis were observed.
Conclusion Xp11.2 RCC is rare and lacks specific clinical manifestations. Its diagnosis is mainly based on immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) test results and imaging features. The main treatment is radical nephrectomy, and the role of adjuvant therapy after surgery has not been fully defined. Short-term follow-up shows good prognosis in two cases, but the long-term prognosis is still uncertain.
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