Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine Learning

Publicly available gene expression datasets were analyzed to develop a chromophobe and oncocytoma related gene signature (COGS) to distinguish chRCC from RO. The datasets GSE11151, GSE19982, GSE2109, GSE8271 and GSE11024 were combined into a discovery dataset. The transcriptomic differences were ide...

Full description

Bibliographic Details
Main Authors: Khaled Bin Satter, Paul Minh Huy Tran, Lynn Kim Hoang Tran, Zach Ramsey, Katheine Pinkerton, Shan Bai, Natasha M. Savage, Sravan Kavuri, Martha K. Terris, Jin-Xiong She, Sharad Purohit
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Cells
Subjects:
Online Access:https://www.mdpi.com/2073-4409/11/2/287
_version_ 1827666252396494848
author Khaled Bin Satter
Paul Minh Huy Tran
Lynn Kim Hoang Tran
Zach Ramsey
Katheine Pinkerton
Shan Bai
Natasha M. Savage
Sravan Kavuri
Martha K. Terris
Jin-Xiong She
Sharad Purohit
author_facet Khaled Bin Satter
Paul Minh Huy Tran
Lynn Kim Hoang Tran
Zach Ramsey
Katheine Pinkerton
Shan Bai
Natasha M. Savage
Sravan Kavuri
Martha K. Terris
Jin-Xiong She
Sharad Purohit
author_sort Khaled Bin Satter
collection DOAJ
description Publicly available gene expression datasets were analyzed to develop a chromophobe and oncocytoma related gene signature (COGS) to distinguish chRCC from RO. The datasets GSE11151, GSE19982, GSE2109, GSE8271 and GSE11024 were combined into a discovery dataset. The transcriptomic differences were identified with unsupervised learning in the discovery dataset (97.8% accuracy) with density based UMAP (DBU). The top 30 genes were identified by univariate gene expression analysis and ROC analysis, to create a gene signature called COGS. COGS, combined with DBU, was able to differentiate chRCC from RO in the discovery dataset with an accuracy of 97.8%. The classification accuracy of COGS was validated in an independent meta-dataset consisting of TCGA-KICH and GSE12090, where COGS could differentiate chRCC from RO with 100% accuracy. The differentially expressed genes were involved in carbohydrate metabolism, transcriptomic regulation by TP53, beta-catenin-dependent Wnt signaling, and cytokine (IL-4 and IL-13) signaling highly active in cancer cells. Using multiple datasets and machine learning, we constructed and validated COGS as a tool that can differentiate chRCC from RO and complement histology in routine clinical practice to distinguish these two tumors.
first_indexed 2024-03-10T01:43:20Z
format Article
id doaj.art-6f2abb6a8e8e4a61a59265a58fa352ef
institution Directory Open Access Journal
issn 2073-4409
language English
last_indexed 2024-03-10T01:43:20Z
publishDate 2022-01-01
publisher MDPI AG
record_format Article
series Cells
spelling doaj.art-6f2abb6a8e8e4a61a59265a58fa352ef2023-11-23T13:19:07ZengMDPI AGCells2073-44092022-01-0111228710.3390/cells11020287Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine LearningKhaled Bin Satter0Paul Minh Huy Tran1Lynn Kim Hoang Tran2Zach Ramsey3Katheine Pinkerton4Shan Bai5Natasha M. Savage6Sravan Kavuri7Martha K. Terris8Jin-Xiong She9Sharad Purohit10Center for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USACenter for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USACenter for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USADepartment of Pathology, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USACenter for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USACenter for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USADepartment of Pathology, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USADepartment of Pathology, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USADepartment of Urology, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USACenter for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USACenter for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, 1120 15th Str., Augusta, GA 30912, USAPublicly available gene expression datasets were analyzed to develop a chromophobe and oncocytoma related gene signature (COGS) to distinguish chRCC from RO. The datasets GSE11151, GSE19982, GSE2109, GSE8271 and GSE11024 were combined into a discovery dataset. The transcriptomic differences were identified with unsupervised learning in the discovery dataset (97.8% accuracy) with density based UMAP (DBU). The top 30 genes were identified by univariate gene expression analysis and ROC analysis, to create a gene signature called COGS. COGS, combined with DBU, was able to differentiate chRCC from RO in the discovery dataset with an accuracy of 97.8%. The classification accuracy of COGS was validated in an independent meta-dataset consisting of TCGA-KICH and GSE12090, where COGS could differentiate chRCC from RO with 100% accuracy. The differentially expressed genes were involved in carbohydrate metabolism, transcriptomic regulation by TP53, beta-catenin-dependent Wnt signaling, and cytokine (IL-4 and IL-13) signaling highly active in cancer cells. Using multiple datasets and machine learning, we constructed and validated COGS as a tool that can differentiate chRCC from RO and complement histology in routine clinical practice to distinguish these two tumors.https://www.mdpi.com/2073-4409/11/2/287chromophobeoncocytomaclassificationmachine learningtranscriptomicgene signature
spellingShingle Khaled Bin Satter
Paul Minh Huy Tran
Lynn Kim Hoang Tran
Zach Ramsey
Katheine Pinkerton
Shan Bai
Natasha M. Savage
Sravan Kavuri
Martha K. Terris
Jin-Xiong She
Sharad Purohit
Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine Learning
Cells
chromophobe
oncocytoma
classification
machine learning
transcriptomic
gene signature
title Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine Learning
title_full Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine Learning
title_fullStr Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine Learning
title_full_unstemmed Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine Learning
title_short Oncocytoma-Related Gene Signature to Differentiate Chromophobe Renal Cancer and Oncocytoma Using Machine Learning
title_sort oncocytoma related gene signature to differentiate chromophobe renal cancer and oncocytoma using machine learning
topic chromophobe
oncocytoma
classification
machine learning
transcriptomic
gene signature
url https://www.mdpi.com/2073-4409/11/2/287
work_keys_str_mv AT khaledbinsatter oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT paulminhhuytran oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT lynnkimhoangtran oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT zachramsey oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT katheinepinkerton oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT shanbai oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT natashamsavage oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT sravankavuri oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT marthakterris oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT jinxiongshe oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning
AT sharadpurohit oncocytomarelatedgenesignaturetodifferentiatechromophoberenalcancerandoncocytomausingmachinelearning