A novel VCP::TFE3 gene fusion resulting from t(X;9)(p11.23;p13.3) chromosome translocation in TFE3 rearranged renal cancer cell carcinoma.
Humans
Carcinoma, Renal Cell
/ genetics
Translocation, Genetic
In Situ Hybridization, Fluorescence
/ methods
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
/ genetics
Kidney Neoplasms
/ genetics
Gene Fusion
Transcription Factors
/ genetics
Chromosomes, Human, X
/ genetics
Valosin Containing Protein
/ genetics
MET inhibitor
MiTF-renal cell carcinoma
TFE3-rearranged renal cell carcinoma
VCP gene fusion
Xp11-translocation renal cell carcinoma (Xp11 RCC)
whole exome sequencing (WES)
whole transcriptome sequencing (WTS)
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
revised:
13
01
2023
received:
30
04
2022
accepted:
21
01
2023
medline:
11
4
2023
pubmed:
26
1
2023
entrez:
25
1
2023
Statut:
ppublish
Résumé
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.
Substances chimiques
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
0
Transcription Factors
0
TFE3 protein, human
0
VCP protein, human
EC 3.6.4.6
Valosin Containing Protein
EC 3.6.4.6
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
361-366Informations de copyright
© 2023 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.
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