Patient-Derived Xenografts and Matched Cell Lines Identify Pharmacogenomic Vulnerabilities in Colorectal Cancer

Clin Cancer Res. 2019 Oct 15;25(20):6243-6259. doi: 10.1158/1078-0432.CCR-18-3440. Epub 2019 Aug 2.

Abstract

Purpose: Patient-derived xenograft (PDX) models accurately recapitulate the tumor of origin in terms of histopathology, genomic landscape, and therapeutic response, but some limitations due to costs associated with their maintenance and restricted amenability for large-scale screenings still exist. To overcome these issues, we established a platform of 2D cell lines (xeno-cell lines, XL), derived from PDXs of colorectal cancer with matched patient germline gDNA available.

Experimental design: Whole-exome and transcriptome sequencing analyses were performed. Biomarkers of response and resistance to anti-HER therapy were annotated. Dependency on the WRN helicase gene was assessed in MSS, MSI-H, and MSI-like XLs using a reverse genetics functional approach.

Results: XLs recapitulated the entire spectrum of colorectal cancer transcriptional subtypes. Exome and RNA-seq analyses delineated several molecular biomarkers of response and resistance to EGFR and HER2 blockade. Genotype-driven responses observed in vitro in XLs were confirmed in vivo in the matched PDXs. MSI-H models were dependent upon WRN gene expression, while loss of WRN did not affect MSS XLs growth. Interestingly, one MSS XL with transcriptional MSI-like traits was sensitive to WRN depletion.

Conclusions: The XL platform represents a preclinical tool for functional gene validation and proof-of-concept studies to identify novel druggable vulnerabilities in colorectal cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Animals
  • Antineoplastic Combined Chemotherapy Protocols / pharmacology*
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Biomarkers, Tumor / genetics*
  • Cell Line, Tumor
  • Cell Proliferation / drug effects
  • Cell Proliferation / genetics
  • Cohort Studies
  • Colon / pathology
  • Colon / surgery
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Colorectal Neoplasms / therapy
  • Drug Resistance, Neoplasm / genetics*
  • Exome Sequencing
  • Female
  • Gene Dosage
  • Humans
  • Lapatinib / pharmacology
  • Lapatinib / therapeutic use
  • Male
  • Mice
  • Microsatellite Instability*
  • Middle Aged
  • Precision Medicine
  • Primary Cell Culture
  • RNA-Seq
  • Rectum / pathology
  • Rectum / surgery
  • Trastuzumab / pharmacology
  • Trastuzumab / therapeutic use
  • Treatment Outcome
  • Werner Syndrome Helicase / genetics
  • Xenograft Model Antitumor Assays

Substances

  • Biomarkers, Tumor
  • Lapatinib
  • WRN protein, human
  • Werner Syndrome Helicase
  • Trastuzumab