TFE3 probe for ISH CE/IVD - Kidney cancer
TFE3 gene is located on Xp11.2 and encodes a transcription factor that binds to the immunoglobulin heavy chain enhancer 3. TFE3 is a member of the same family of transcription factors as microphthalmia transcription factor (MiTF), TFEB and TFEC. As a homodimer or heterodimer (e.g. with TFEB), TFE3 promotes the expression of a wide variety of genes involved in cell growth and proliferation. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alveolar soft-part sarcoma (ASPS) is a rare malignant tumor typically occurring in patients in their 20s to 30s within the muscle and deep tissues of the extremities. ASPS is slow growing and refractory to chemotherapy with a propensity to metastasize. Prolonged survival is possible even with metastasis, although the long-term disease-related mortality rate is high. ASPS is characterized by a translocation that results in fusion of TFE3 on chromosome Xp11.2 with ASPSCR1 (also called ASPL or RCC17) on chromosome 17q25.3. Both balanced and unbalanced forms (loss of the derivative X chromosome) of the translocation have been observed.
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