Development and validation of a gene expression score to account for tumour purity and improve prognostication in breast cancer
biorxiv(2024)
摘要
The prevalence of malignant cells in clinical specimens, or tumour purity, is affected by both intrinsic biological factors and extrinsic sampling bias. Molecular characterization of large clinical cohorts is typically performed on bulk samples; data analysis and interpretation can be biased by tumour purity variability. Transcription-based strategies to estimate tumour purity have been proposed, but no breast cancer specific method is available yet.
We interrogated over 4400 expression profiles from 9 breast cancer datasets to develop and validate a 9-gene Breast Cancer Purity Score (BCPS). BCPS outperformed existing methods for estimating tumour content. Adjusting transcriptomic profiles using the BCPS reduce sampling bias and aid data interpretation. BCPS-estimated tumour purity improved prognostication in luminal breast cancer, correlated with pathologic complete response in on-treatment biopsies from triple-negative breast cancer patients undergoing neoadjuvant treatment and effectively stratified the risk of relapse in HER2+ residual disease post-neoadjuvant treatment.
### Competing Interest Statement
The authors have declared no competing interest.
* ANOVA
: ANalysis Of VAriance
AUC
: Area under the ROC curve
BCPS
: Breast Cancer Purity Score
CBX
: Core-Biopsy
DEFS
: Distant Event-Free Survival
EFS
: Event-Free Survival
FDR
: False Discovery Rate
FFPE
: Formalin-Fixed, Paraffin-Embedded
FNA
: Fine-Needle Aspiration
FPKM
: Fragments Per Kilobase Million
IDC
: Invasive Ductal Carcinoma
ILC
: Invasive Lobular Cancer
iTIL
: intraepithelial Tumour-Infiltrating Lymphocyte
OS
: Overall Survival
pCR
: pathological Complete Response
PDX
: Patient-derived xenograft
ROC
: Receiver Operating Characteristic
sTIL
: stromal Tumour-Infiltrating Lymphocyte
TME
: Tumour Microenvironment
VCA
: Variance Component Analysis
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