VEGFA amplification/increased gene copy number and VEGFA mRNA expression in renal cell carcinoma with TFEB gene alterations

Objectives. Differentiating renal oncocytoma (RO) from chromophobe renal cell carcinoma (ChRCC) can occasionally be challenging. We evaluated the expression of RB1 and ERBB4 in RO and ChRCC, and compared the immunohistochemistry (IHC) results to RB1 and ERBB4 gene abnormalities detected by fluorescence in situ hybridization (FISH). Materials and Methods. Fifty-three kidney resections (ChRCC, n=28; RO, n=25) were stained for RB1 and ERBB4 IHC and FISH was performed to evaluate gene copy number analysis. Results. A loss of RB1 staining was identified in 64% (18/28) of ChRCCs, which was not found in any ROs (0/25; P <.001). FISH analysis revealed 36% (10/28) of ChRCCs contained a RB1 hemizygous deletion with a concordance of 56% (10/18) between the IHC and FISH findings. No RB1 gene copy number variations were detected in any of the ROs (0/25; P <.001) and retained expression of RB1 by IHC. ERBB4 showed cytoplasmic/membranous staining in all ROs and ChRCCs. However, 75% (21/28) of ChRCCs also contained nuclear positivity for ERBB4, which was uncommonly seen in ROs (3/25, 12%; P < .001). A hemizygous ERBB4 gene deletion was detected in 46% of ChRCCs (13/28), but none of the ROs (0/25; 0%). Loss of labeling by RB1 or nuclear staining for ERBB4 IHC identified 25 of 28 (89%) of ChRCCs. Conclusion. In summary, the loss of RB1 expression is a highly specific diagnostic biomarker in distinguishing ChRCC from RO. Nuclear ERBB4 expression also appears to be a sensitive diagnostic biomarker for ChRCC, albeit the mechanism is unknown.

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Clinical Relevance of Gene Copy Number Variation in Metastatic Clear Cell Renal Cell Carcinoma

Clinical Genitourinary Cancer ◽

10.1016/j.clgc.2018.02.013 ◽

2018 ◽

Vol 16 (4) ◽

pp. e795-e805 ◽

Cited By ~ 5

Author(s):

François-Xavier Nouhaud ◽

France Blanchard ◽

Richard Sesboue ◽

Jean-Michel Flaman ◽

Jean-Christophe Sabourin ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Renal Cell ◽

Clinical Relevance ◽

Copy Number ◽

Clear Cell ◽

Gene Copy Number ◽

Gene Copy ◽

Cell Renal Cell Carcinoma ◽

Gene Copy Number Variation ◽

Number Variation

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Relationships between Chromosome 7 Gain, MET Gene Copy Number Increase and MET Protein Overexpression in Chinese Papillary Renal Cell Carcinoma Patients

PLoS ONE ◽

10.1371/journal.pone.0143468 ◽

2015 ◽

Vol 10 (12) ◽

pp. e0143468 ◽

Cited By ~ 6

Author(s):

Xiaolu Yin ◽

Tianwei Zhang ◽

Xinying Su ◽

Yan Ji ◽

Peng Ye ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Renal Cell ◽

Copy Number ◽

Gene Copy Number ◽

Papillary Renal Cell Carcinoma ◽

Chromosome 7 ◽

Gene Copy ◽

Protein Overexpression ◽

Number Increase ◽

Copy Number Increase

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Decreased GATA5 mRNA expression associates with CpG island methylation and shortened recurrence-free survival in clear cell renal cell carcinoma

BMC Cancer ◽

10.1186/1471-2407-14-101 ◽

2014 ◽

Vol 14 (1) ◽

Cited By ~ 8

Author(s):

Inga Peters ◽

Natalia Dubrowinskaja ◽

Michael Kogosov ◽

Mahmoud Abbas ◽

Jörg Hennenlotter ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Mrna Expression ◽

Renal Cell ◽

Clear Cell ◽

Cpg Island ◽

Recurrence Free Survival ◽

Cell Renal Cell Carcinoma ◽

Free Survival ◽

Cpg Island Methylation

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FTO mRNA expression in the lower quartile is associated with bad prognosis in clear cell renal cell carcinoma based on TCGA data mining

Annals of Diagnostic Pathology ◽

10.1016/j.anndiagpath.2018.10.009 ◽

2019 ◽

Vol 38 ◽

pp. 1-5 ◽

Cited By ~ 3

Author(s):

Lijie Wen ◽

Yang Yu ◽

Hang Lv ◽

Yi He ◽

Bo Yang

Keyword(s):

Data Mining ◽

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Mrna Expression ◽

Renal Cell ◽

Clear Cell ◽

Lower Quartile ◽

Cell Renal Cell Carcinoma

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COL6A2/3 can serve as potential therapeutic targets and prognostic biomarkers for clear cell renal cell carcinoma

10.21203/rs.3.rs-119445/v1 ◽

2020 ◽

Author(s):

Wingkeung Yiu ◽

Can-Xuan Li ◽

Jie Chen

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Mrna Expression ◽

Renal Cell ◽

Clear Cell ◽

Therapeutic Targets ◽

Gene Set Enrichment Analysis ◽

Prognostic Biomarkers ◽

Cell Renal Cell Carcinoma ◽

Tumorigenesis And Progression

Abstract Background: Growing evidence has shown that the type VI collagen alpha chain (COL6A) family involved in the tumorigenesis and progression of diverse malignancies; however, its biological roles and potential mechanisms in clear cell renal cell carcinoma (ccRCC) remain unknown. The study was designed to explore the potential mechanisms and functions of COL6As in ccRCC.Methods: ONCOMINE and GEPIA databases were used to compare the transcriptional expression data of COL6As in ccRCC samples and normal renal samples. UALCAN database was utilized to determine the association between clinicopathological features and COL6As expression. Kaplan–Meier method was employed to determine the prognostic value of COL6As mRNA expression in ccRCC. CBioPortal database was used to investigate the genetic alterations of COL6As in ccRCC. Co-expression analyses, functional enrichment analyses, and gene set enrichment analysis (GSEA) were utilized to explore the potential action mechanisms of COL6As in ccRCC. Finally, we estimated the relationship between COL6As expression with immune cell infiltrates.Results: Upregulated transcriptional COL6A2/COL6A3 expression was observed in ccRCC specimens by comparison with noncancerous renal specimens. Patients with increased COL6A2/COL6A3 mRNA expression have a poor clinical outcome and unfavorable prognosis. Gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and GSEA analyses showed that COL6A2/COL6A3 might promote the tumorigenesis and progression of ccRCC by involving in several cancer-related pathways, such as axon guidance, focal adhesion, ECM receptor interaction. Besides, we found that COL6A2/COL6A3 expression was significantly associated with immune infiltration levels in ccRCC.Conclusions: COL6A2 and COL6A3 could act as candidate prognostic biomarkers and therapeutic targets in ccRCC. However, further experimental work was required to validate the conclusions.

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