Diverse fusion patterns and heterogeneous clinicopathologic features of renal cell carcinoma with t(6;11) translocation.

摘要: Renal cell carcinoma (RCC) with t(6;11) translocation, involving the transcription factor EB (TFEB) and Alpha, also known as MALATI, (TFEB RCC), is extremely rare, only 20 cases reported to date. It may be frequently misdiagnosed because of a lack established characteristics. TFEB RCCs are predominantly seen in younger patients generally indolent, 2 metastasis. Genetic analysis has been limited, showing break points upstream exon 3, yielding single transcript. We examined 3 new adult Japanese RCC by means precise clinicopathologic, immunohistochemical, cytogenetic, molecular analyses compared them 200 ordinary RCCs. A 57-year-old man was oldest patient at time this study. Although tumor had histology typical translocation RCC, its fusion were different between genomic transcript coordinates. 37-year-old an aggressive course resulting death. The variants messenger ribonucleic acid. 47-year-old showed borderline histologic immunohistochemical features chromophobe-type RCC. point 4, downstream wild-type ATG 3. Nuclear expression protein detected, Western blotting identified similar size protein. Immunohistochemistry useful for diagnosis these tumors, have heterogeneous clinicopathologic more diverse patterns than previously thought, requiring attention polymerase chain reaction experiments diagnosis. Our study will contribute correct