Seventeen-gene signature from enriched Her2/Neu mammary tumor-initiating cells predicts clinical outcome for human HER2+:ERα- breast cancer

Proc Natl Acad Sci U S A. 2012 Apr 10;109(15):5832-7. doi: 10.1073/pnas.1201105109. Epub 2012 Mar 28.

Abstract

Human Epidermal Growth Factor Receptor 2-positive (HER2(+)) breast cancer (BC) is a highly aggressive disease commonly treated with chemotherapy and anti-HER2 drugs, including trastuzumab. There is currently no way to predict which HER2(+) BC patients will benefit from these treatments. Previous prognostic signatures for HER2(+) BC were developed irrespective of the subtype or the hierarchical organization of cancer in which only a fraction of cells, tumor-initiating cells (TICs), can sustain tumor growth. Here, we used serial dilution and single-cell transplantation assays to identify MMTV-Her2/Neu mouse mammary TICs as CD24(+):JAG1(-) at a frequency of 2-4.5%. A 17-gene Her2-TIC-enriched signature (HTICS), generated on the basis of differentially expressed genes in TIC versus non-TIC fractions and trained on one HER2(+) BC cohort, predicted clinical outcome on multiple independent HER2(+) cohorts. HTICS included up-regulated genes involved in S/G2/M transition and down-regulated genes involved in immune response. Its prognostic power was independent of other predictors, stratified lymph node(+) HER2(+) BC into low and high-risk subgroups, and was specific for HER2(+):estrogen receptor alpha-negative (ERα(-)) patients (10-y overall survival of 83.6% for HTICS(-) and 24.0% for HTICS(+) tumors; hazard ratio = 5.57; P = 0.002). Whereas HTICS was specific to HER2(+):ERα(-) tumors, a previously reported stroma-derived signature was predictive for HER2(+):ERα(+) BC. Retrospective analyses revealed that patients with HTICS(+) HER2(+):ERα(-) tumors resisted chemotherapy but responded to chemotherapy plus trastuzumab. HTICS is, therefore, a powerful prognostic signature for HER2(+):ERα(-) BC that can be used to identify high risk patients that would benefit from anti-HER2 therapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antibodies, Monoclonal, Humanized / pharmacology
  • Antibodies, Monoclonal, Humanized / therapeutic use
  • Antineoplastic Agents / pharmacology
  • Antineoplastic Agents / therapeutic use
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / genetics*
  • CD24 Antigen / metabolism
  • Calcium-Binding Proteins / metabolism
  • Cell Differentiation / drug effects
  • Cell Division / drug effects
  • Estrogen Receptor alpha / metabolism*
  • Female
  • Gene Expression Profiling*
  • Gene Expression Regulation, Neoplastic / drug effects
  • Genes, Neoplasm / genetics*
  • Humans
  • Intercellular Signaling Peptides and Proteins / metabolism
  • Jagged-1 Protein
  • Membrane Proteins / metabolism
  • Mice
  • Neoadjuvant Therapy
  • Neoplastic Stem Cells / drug effects
  • Neoplastic Stem Cells / metabolism
  • Neoplastic Stem Cells / pathology*
  • Prognosis
  • Receptor, ErbB-2 / metabolism*
  • Serrate-Jagged Proteins
  • Signal Transduction / drug effects
  • Trastuzumab
  • Treatment Outcome

Substances

  • Antibodies, Monoclonal, Humanized
  • Antineoplastic Agents
  • CD24 Antigen
  • Calcium-Binding Proteins
  • ESR1 protein, human
  • Estrogen Receptor alpha
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jag1 protein, mouse
  • Jagged-1 Protein
  • Membrane Proteins
  • Serrate-Jagged Proteins
  • Receptor, ErbB-2
  • Trastuzumab

Associated data

  • GEO/GSE29590
  • GEO/GSE29616