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Putative biomarkers for predicting tumor sample purity based on gene expression data.

Yuanyuan Li1, David M Umbach2, Adrienna Bingham2

  • 1Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA MD A3-03, Durham, NC, 27709, USA. yuanyuan.li@nih.gov.

BMC Genomics
|December 29, 2019
PubMed
Summary
This summary is machine-generated.

Accurately predicting tumor purity, the percentage of cancer cells in a tumor sample, is crucial for understanding tumor biology. A ten-gene set effectively predicts tumor purity using gene expression data, serving as a potential biomarker.

Keywords:
And machine learningGene expressionGradient boosted treesRNA-seqTumor purityXGBoost

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Area of Science:

  • Oncology
  • Computational Biology
  • Genomics

Background:

  • Tumor purity, the proportion of cancer cells in a tissue sample, is critical for understanding tumor biology and the roles of both cancerous and non-cancerous cells.
  • Accurate determination of tumor purity is essential for comprehensive tumor analysis.

Purpose of the Study:

  • To develop and validate a method for accurately predicting tumor purity using gene expression data.
  • To identify a specific gene set that can serve as a reliable biomarker for tumor purity prediction.

Main Methods:

  • Applied a supervised machine learning algorithm (XGBoost) to RNA-sequencing gene expression data from 33 The Cancer Genome Atlas (TCGA) tumor types.
  • Utilized gene expression levels to predict tumor purity and evaluated prediction accuracy using correlation and root mean square error.

Main Results:

  • Achieved high median correlations (0.75-0.87) between observed and predicted tumor purity across 33 tumor types, indicating accurate prediction using gene expression data.
  • Identified a ten-gene set (CSF2RB, RHOH, C1S, CCDC69, CCL22, CYTIP, POU2AF1, FGR, CCL21, and IL7R) whose expression levels reliably predict tumor purity across different tumor types.
  • Validated the predictive power of the ten-gene set on a TCGA-independent dataset, demonstrating a high correlation (ρ = 0.88) with observed tumor purity.

Conclusions:

  • The identified ten-gene set demonstrates significant potential as a biomarker for predicting tumor purity from gene expression data.
  • This approach offers a robust method for estimating tumor purity, valuable for cancer research and clinical applications.