Heterogeneous HER2 gene amplification: impact on patient outcome and a clinically relevant definition

Am J Clin Pathol. 2011 Aug;136(2):266-74. doi: 10.1309/AJCP0EN6AQMWETZZ.

Abstract

Heterogeneous expression or amplification is a challenge to HER2 diagnostics. A guideline defines heterogeneity as the presence of between 5% and 50% cells with HER2/CEP17 ratios of more than 2.20. We audited the frequency of such cells and their clinical impact in the results from 2 pathology laboratories combined with data from the TEAM [Tamoxifen vs Exemestane Adjuvant Multicentre] pathology study. HER2 reports were scanned and the percentages of amplified cells reported. Of 6,461 eligible cases, 754 (11.7%) exhibited 50% or more cells with ratios of more than 2.20, which is "amplified" by College of American Pathologists guidelines. Of the cases, 2,166 (33.5%) exhibited more than 5% but less than 50% of cells with HER2/CEP17 ratios of more than 2.20, or "heterogeneous amplification." No prognostic impact was observed when fewer than 30% of cells exhibited ratios of more than 2.20. All amplified cases with 30% to 50% of cells with ratios more than 2.20 were identified as such by United Kingdom guidelines. The percentage of tumor cells with HER2/CEP17 ratios more than 2.20 does not identify cases with heterogeneous amplification or poor outcome. A modified approach for identification of true heterogeneous amplification is suggested.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Androstadienes / therapeutic use
  • Antineoplastic Agents / therapeutic use
  • Breast Neoplasms / drug therapy*
  • Breast Neoplasms / genetics*
  • Cohort Studies
  • Female
  • Gene Amplification / genetics*
  • Genes, erbB-2 / genetics*
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Multicenter Studies as Topic
  • Practice Guidelines as Topic
  • Prognosis
  • Tamoxifen / therapeutic use
  • Treatment Outcome

Substances

  • Androstadienes
  • Antineoplastic Agents
  • Tamoxifen
  • exemestane