Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma
TFE3 -translocation renal cell carcinoma ( TFE3 -tRCC) is a rare and heterogeneous subtype of kidney cancer with no standard treatment for advanced disease. We describe comprehensive molecular characteristics of 63 untreated primary TFE3 -tRCCs based on whole-exome and RNA sequencing. TFE3 -tRCC is...
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Published in | Nature communications Vol. 12; no. 1; p. 5262 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
Nature Publishing Group UK
06.09.2021
Nature Publishing Group Nature Portfolio |
Subjects | |
Online Access | Get full text |
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Summary: | TFE3
-translocation renal cell carcinoma (
TFE3
-tRCC) is a rare and heterogeneous subtype of kidney cancer with no standard treatment for advanced disease. We describe comprehensive molecular characteristics of 63 untreated primary
TFE3
-tRCCs based on whole-exome and RNA sequencing.
TFE3
-tRCC is highly heterogeneous, both clinicopathologically and genotypically.
ASPSCR1-TFE3
fusion and several somatic copy number alterations, including the loss of 22q, are associated with aggressive features and poor outcomes. Apart from tumors with
MED15-TFE3
fusion, most
TFE3
-tRCCs exhibit low PD-L1 expression and low T-cell infiltration. Unsupervised transcriptomic analysis reveals five molecular clusters with distinct angiogenesis, stroma, proliferation and KRAS down signatures, which show association with fusion patterns and prognosis. In line with the aggressive nature, the high angiogenesis/stroma/proliferation cluster exclusively consists of tumors with
ASPSCR1-TFE3
fusion. Here, we describe the genomic and transcriptomic features of
TFE3
-tRCC and provide insights into precision medicine for this disease.
TFE3-translocation renal cell carcinoma (TFE3-tRCC) is a rare subtype of kidney cancer with no standard treatment options for the advanced disease. Here, the authors perform genomic and transcriptomic profiling of 63 untreated primary TFE3-tRCC tumours and reveal potential therapeutic targets. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 2041-1723 2041-1723 |
DOI: | 10.1038/s41467-021-25618-z |