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6 slides generated from the cancer page, with a quiz from the open benchmark and speaker notes that cite the sources. Arrow keys move between slides; Print gives one slide per page.
Translocation renal cell carcinoma is a rare kidney cancer, more often seen in children and young adults, driven by a rearrangement of the TFE3 gene (or its relative TFEB). It can look like clear cell or papillary kidney cancer under the microscope, so it is found by testing for the gene. There is no standard treatment for advanced disease, which is treated with the usual kidney cancer drugs.
The 2022 WHO classification groups TFE3-rearranged and TFEB-altered (rearranged or amplified) renal cell carcinomas as the molecularly defined MiT family translocation carcinomas (Moch 2022). TFE3-translocation carcinoma is highly heterogeneous clinically and genetically: among 63 untreated primaries studied by whole-exome and RNA sequencing, the ASPSCR1-TFE3 fusion and copy-number changes including loss of 22q went with aggressive features and poor outcome, most tumours (except MED15-TFE3) showed low PD-L1 expression and low T-cell infiltration, and five transcriptional clusters with distinct angiogenesis, stroma, proliferation and KRAS-down signatures tracked with fusion type and prognosis (Nature Communications 2021). A mouse model expressing PRCC-TFE3 in the kidney reproduced the histology, showed elevated RET expression that the RET inhibitor vandetanib suppressed, and identified GPNMB as a diagnostic marker (Molecular Cancer Research 2019).
How it differs from its parent: it is defined by a fusion rather than by VHL loss, occurs at a younger age, is misdiagnosed as clear cell or papillary carcinoma without TFE3 immunohistochemistry or FISH, and lacks the immune-rich microenvironment that makes clear cell carcinoma respond to checkpoint inhibitors.
| Setting | Approach | Guideline |
|---|---|---|
| All stages | Surgery when localised; advanced disease treated on the renal cell carcinoma page's VEGF and checkpoint pathways without a dedicated standard. | not mapped |