Objective: Renal cell carcinoma (RCC) with t(6; 11)(p21; q12) case report and review to explore its pathology morphologic heterogeneity and diagnostic criteria.
Methods: A female patient is 46 years old, who was admitted to hospital due to tumor of kidney. The gross and histological morphology of tumor were observed. Fluorescence in situ hybridization and immunohistochemistry were used to analyze the molecular markers, and the related literatures were reviewed.
Results: Grossly, the tumor was a 6 cm×5.5 cm×4.5 cm mass locating at the lower lobe of the right kidney. The tumor was poorly circumscribed, gray to tan cut surface with focal hemorrhage and cystic change. Histologically, the tumor was predominantly composed of alveolar architecture of polygonal tumor cells with well-defined cell borders, separated by thin capillaries. The tumor cells were positive for TFEB, Cathepsin-K, HMB45, Melan-A, E-cadherin and Vimentin. Gene rearrangement of TFEB was found. These markers showed that the tumor is a RCC with t(6; 11)(p21; q12).
Conclusion: The morphology of RCC with t(6; 11)(p21; q12) is not entirely distinctive. Differential diagnosis of RCC with t(6; 11)(p21; q12), high-grade clear cell RCC and papillary RCC was necessary. For cases morphologically suspicious for t(6; 11)(p21; q12) RCC, FISH and IHC may be helpful for pathological diagnosis.
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