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| Status |
Public on Feb 01, 2024 |
| Title |
RBPJ::ALK : a novel fusion gene amplified in a metastatic sarcomatoid chromophobe renal cell carcinoma |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
Using Fluorescence in situ hybridization (FISH), Comparative genomic hybridization on array (aCGH) and Targeted RNA sequencing (RNASeq), we observed a novel fusion of ALK with RPBJ that was amplified and immunohistochemically overexpressed in both the small sarcomatoid component of a chromophobe renal cell carcinoma (chRCC) and in its lymph node metastasis. The amplified RBPJ::ALK fusion was not detected in the chromophobe component of the primary tumour that harbored chRCC-typical losses of chromosomes 1, 2, 6, 10, 13 and 17. In contrast, the same mutations of PTEN, TP53 and TERT promoter were observed together in the three analyzed samples from chRCC, sarcomatoid component of the chRCC and metastasis.
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| Overall design |
screening of 3 samples ofa chromophobe renal cell carcinoma by SNP array with affymetrix platform
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| Contributor(s) |
SERAG M, DADONE-MONTAUDIE B, MAURO ID, CARPENTIER S, PEYRON A, BAZIN A, VALENZA B, WEINBRECK N, PEDEUTOUR F |
| Citation missing |
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| Submission date |
Feb 02, 2023 |
| Last update date |
Feb 01, 2024 |
| Contact name |
Ilaria Di Mauro |
| E-mail(s) |
dimauro.i@chu-nice.fr
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| Organization name |
CHU de Nice
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| Street address |
28 avenue de valombrose
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| City |
nice |
| ZIP/Postal code |
06100 |
| Country |
France |
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| Platforms (1) |
| GPL21558 |
[OncoScan_CNV] Affymetrix OncoScan CNV FFPE Assay |
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| Samples (3) |
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| Relations |
| BioProject |
PRJNA930896 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE224415_RAW.tar |
73.1 Mb |
(http)(custom) |
TAR (of CEL, OSCHP) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
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