Leveraging single-cell sequencing to classify and characterize tumor subgroups in bulk RNA-sequencing data

J Neurooncol. 2024 Jul;168(3):515-524. doi: 10.1007/s11060-024-04710-6. Epub 2024 May 29.

Abstract

Purpose: Accurate classification of cancer subgroups is essential for precision medicine, tailoring treatments to individual patients based on their cancer subtypes. In recent years, advances in high-throughput sequencing technologies have enabled the generation of large-scale transcriptomic data from cancer samples. These data have provided opportunities for developing computational methods that can improve cancer subtyping and enable better personalized treatment strategies.

Methods: Here in this study, we evaluated different feature selection schemes in the context of meningioma classification. To integrate interpretable features from the bulk (n = 77 samples) and single-cell profiling (∼ 10 K cells), we developed an algorithm named CLIPPR which combines the top-performing single-cell models, RNA-inferred copy number variation (CNV) signals, and the initial bulk model to create a meta-model.

Results: While the scheme relying solely on bulk transcriptomic data showed good classification accuracy, it exhibited confusion between malignant and benign molecular classes in approximately ∼ 8% of meningioma samples. In contrast, models trained on features learned from meningioma single-cell data accurately resolved the sub-groups confused by bulk-transcriptomic data but showed limited overall accuracy. CLIPPR showed superior overall accuracy and resolved benign-malignant confusion as validated on n = 789 bulk meningioma samples gathered from multiple institutions. Finally, we showed the generalizability of our algorithm using our in-house single-cell (∼ 200 K cells) and bulk TCGA glioma data (n = 711 samples).

Conclusion: Overall, our algorithm CLIPPR synergizes the resolution of single-cell data with the depth of bulk sequencing and enables improved cancer sub-group diagnoses and insights into their biology.

Keywords: Meningioma; Single-cell RNA sequencing; Tumor classification.

MeSH terms

  • Algorithms*
  • Biomarkers, Tumor / genetics
  • DNA Copy Number Variations
  • Gene Expression Profiling / methods
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Meningeal Neoplasms* / classification
  • Meningeal Neoplasms* / genetics
  • Meningeal Neoplasms* / pathology
  • Meningioma* / classification
  • Meningioma* / genetics
  • Meningioma* / pathology
  • Sequence Analysis, RNA* / methods
  • Single-Cell Analysis* / methods
  • Transcriptome

Substances

  • Biomarkers, Tumor