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Tuesday 20 August 2019

Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.

Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.

Open references

- NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma. Pei J, Cooper H, Flieder DB, Talarchek JN, Al-Saleem T, Uzzo RG, Dulaimi E, Patchefsky AS, Testa JR, Wei S. Mod Pathol. 2019 May;32(5):710-716. doi : 10.1038/s41379-018-0191-7 PMID: 30622287 Free