A novel VCP::TFE3 gene fusion resulting from t(X;9)(p11.23;p13.3) chromosome translocation in TFE3 rearranged renal cancer cell carcinoma.
Marie Auvray KuentzHélène BlonsAnne Paule Gimenez-RoqueploPierre-Alexandre JustPierre Laurent-PuigArnaud MejeanStéphane OudardVirginie VerkarrePublished in: Genes, chromosomes & cancer (2023)
Renal cell carcinoma (RCC) with rearrangement of transcription factor for immunoglobulin heavy-chain enhancer 3 (TFE3; TFE3-rearranged RCC) at Xp11.2 is a rare tumor entity but the most frequent among the microphthalmia transcription factor family translocation RCCs. Here, we report the identification of a new VCP::TFE3 fusion gene as the result of a t(X;9)(p11.23;p13.3) translocation identified by whole transcriptome sequencing. No other relevant molecular alteration was identified by whole exome sequencing. This case showed typical morphological features of TFE3-rearranged RCC with positive TFE3 immunostaining and positive TFE3 break-apart fluorescence in situ hybridization. MET was also overexpressed on immunohistochemistry. The patient had metastatic disease and was treated by surgery and five lines of therapy, including 24 months of stable disease on the mesenchymal epithelial transition (MET) inhibitor cabozantinib, with an overall survival of 7 years. In addition to expanding the spectrum of TFE3 rearrangement partners, this report highlights the complexity of these tumors and supports the development of translational programs in renal cancer.
Keyphrases
- transcription factor
- renal cell carcinoma
- papillary thyroid
- copy number
- squamous cell carcinoma
- small cell lung cancer
- single cell
- gene expression
- minimally invasive
- stem cells
- public health
- tyrosine kinase
- genome wide identification
- squamous cell
- bone marrow
- young adults
- dna binding
- coronary artery disease
- acute coronary syndrome
- rna seq
- childhood cancer
- lymph node metastasis