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Related Experiment Video

Updated: May 26, 2025

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
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Expression and Subtype Discordance Between Core Needle Biopsy and Surgical Specimen in Breast Cancer.

Min Xu1, Yiwei Yan2, Yueqin Chen3

  • 1Department of Breast Surgery, The Third Hospital of Xiamen, Xiamen, China; Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, China.

The Journal of Surgical Research
|February 22, 2025
PubMed
Summary

Core needle biopsy (CNB) accurately assesses breast cancer biomarkers, but retesting is recommended for specific cases with potential discordance. This ensures precise molecular subtype classification and informs treatment decisions.

Keywords:
BiomarkerBreast cancerCore needle biopsyDiscordanceEstrogen receptors progesterone receptorHuman epidermal growth factor receptor 2Molecular subtypeSurgical specimen

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Area of Science:

  • Oncology
  • Pathology
  • Molecular Diagnostics

Background:

  • Estrogen receptors (ERs), progesterone receptors (PRs), and HER2 are critical for breast cancer subtyping and treatment selection.
  • Core needle biopsy (CNB) is a minimally invasive method for preoperative biomarker assessment, but can suffer from sampling errors.
  • Evaluating discordance between CNB and surgical specimens (SS) is essential for understanding diagnostic accuracy.

Purpose of the Study:

  • To assess the discordance rates of ER, PR, HER2, and molecular subtypes between CNB and SS in breast cancer patients.
  • To identify factors associated with biomarker and molecular subtype discordance.
  • To recommend specific criteria for retesting CNB samples to improve diagnostic accuracy.

Main Methods:

  • Retrospective collection of medical records from 2099 invasive breast cancer patients.
  • Immunohistochemistry and fluorescence in situ hybridization for ER, PR, and HER2 assessment in both CNB and SS.
  • Kappa test for agreement analysis and logistic regression for identifying discordance factors.

Main Results:

  • High agreement was found between CNB and SS for ER (κ=0.899), PR (κ=0.896), and HER2 (κ=0.972).
  • Discordance rates were 3.9% for ER, 4.8% for PR, and 1.2% for HER2.
  • Molecular subtype discordance occurred in 344 cases, primarily between Luminal A and Luminal B (HER2-) subtypes. Factors included tumor size, ER/PR expression levels, and Ki67 status.

Conclusions:

  • CNB demonstrates good accuracy for ER, PR, HER2, and molecular subtype evaluation in breast cancer.
  • Specific patient groups, including those with ER-negative/PR-positive results, low ER expression with negative PR, or Luminal A subtype with tumors ≤2 cm, warrant retesting.
  • These findings provide a valuable reference for clinical decision-making and optimizing breast cancer diagnosis.