1.Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) pargani@jhmi.edu.
Review on Renal cell carcinoma with t(X;17)(p11;q23) CLTC/TFE3, with data on clinics, and the genes involved.
Immunohistochemical (IHC) analysis showed strong and diffuse nuclear labeling with a polyclonal antibody to the TFE3 C-terminal portion, as seen in other tumors associated with TFE3 gene fusions. Since native TFE3 protein is not detectable in non-neoplastic cells by the same assay, this finding is consistent with constitutive expression of a nuclear fusion protein containing the TFE3 C-terminal portion, such as the predicted CLTC-TFE3 protein. Like most conventional (clear cell) and papillary RCCs, the tumor contained tumor cells were strongly and diffusely immunoreactive for CD10, showing strong cytoplasmic staining with membranous accentuation. However, unlike most typical adult RCCs, IHC with all cytokeratin antibodies (Cam5.2, AE1/3, Cytokeratin 7) and the "RCC" monoclonal antibody yielded negative reactions, though tumor cells did label in one isolated area for Epithelial Membrane Antigen (EMA). Underexpression of common epithelial proteins is a typical feature of Xp11.2-translocation carcinomas. Surprisingly, the tumor was focally immunoreactive for the melanocytic proteins Melan-A and HMB45 but IHC assays for MiTF and S100 protein were negative. While unusual, the immunoreactivity for melanocytic markers can be seen in Xp11 translocation carcinomas.
Pedram Argani ; Marc Ladanyi
Kidney: Renal cell carcinoma with t(X;17)(p11;q23) CLTC/TFE3
Atlas Genet Cytogenet Oncol Haematol. 2016-08-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5035/kidney-renal-cell-carcinoma-with-t(x;17)(p11;q23)-cltc-tfe3
2005-04-01 Kidney: Renal cell carcinoma with t(X;17)(p11;q23) CLTC/TFE3 by Pedram Argani,Marc Ladanyi  Affiliation