Abstract 323P
Background
TFE3-rearranged renal cell carcinoma (TFE3-rRCC) is a rare RCC subtype with various fusions and heterogeneous clinicopathological features. MED15-TFE3 usually present an extensive cystic mass with low malignance. We aim to summarize the clinicalopathological features, transcriptomics, and survival outcome in MED15-TFE3 patients.
Methods
14 cases were collected retrospectively from West China Hospital from 8/2011 to now. Diagnosis of MED15-TFE3 gene fusion was confirmed by fluorescence in situ hybridization and RNA sequencing. The clinicopathological features and follow-up information were collected for further analysis. The tumor transcriptomic profiles were analyzed by using Gene Set Enrichment Analysis, Gene Ontology analysis, and Kyoto Encyclopedia of Genes and Genomes analysis.
Results
4 males and 10 females with meadian age of 43.5 were included. For the patients without distant metastasis (n=13), 2 patients with metastasis with disease-free survival of 11.4 and 29.0 months. 10 samples were cystic morphologically, and others were papillary. For metastatic patients, 3 received first-line therapy (1 axitinib, 1 axitinib + sintilimab, 1 sunitinib), 2 received second-line therapy (1 axitinib + sintilimab, 1 axitinib + toripalimab), 1 received third-line therapy (axitinib + toripalimab+ everolimus). They are still under follow-up. GSEA analysis illustrated that compared to paratumor tissue, apical surface, bile acid metabolism, KRAS signaling, Xenobiotic Metabolism, estrogen response were upregulated. For the patients with distant metastases, the transcriptomic analysis revealed that organelle fission, nuclear division, mitotic nuclear division, and chromosome segregation were upregulated. The overall immune cell infiltration was comparable in metastatic and non-metastatic groups. However, the level of T 17 helper cells, B cells, plasmacytoid dendritic cells, and activated dendritic cells were different in two groups.
Conclusions
MED15-TFE3 rRCC mainly present low-grade cystic renal neoplasm with favorable prognosis. For metastatic MED15-TFE3 rRCC, there is no standard therapy. The transcriptomic evidence may provide insights for future research.
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.