MRI characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: report of 5 cases and literature review

Objective: To study the MRI manifestations of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion. Methods: MRI of 5 patients with pathologically confirmed Xp11.2 translocation RCC was retrospectively analyzed in regard to tumor position, size, hemorrhage, cystic or necrotic components, signal intensity and enhancement features. Results: All 5 lesions had heterogeneous T₁ and T₂ signal intensities with hyperintensity on diffusion-weighted imaging. Contrast enhancement was mild (1), accompanied with venous thrombus (2) and retroperitoneal lymph node metastasis (4). Adrenal gland metastases (1), bilateral lung and multiple bone metastases (1) were also seen. Conclusion: XP11.2 translocation RCC have characteristic MRI appearance and may be accompanied by metastasis. (authors)