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Åke Borg

Åke Borg

Principal investigator

Åke Borg

How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? A Study of Paired Core-Needle Biopsies and Surgical Specimens in Early Breast Cancer

Author

  • Hani Saghir
  • Srinivas Veerla
  • Martin Malmberg
  • Lisa Rydén
  • Anna Ehinger
  • Lao H. Saal
  • Johan Vallon-Christersson
  • Åke Borg
  • Cecilia Hegardt
  • Christer Larsson
  • Alaa Haidar
  • Ingrid Hedenfalk
  • Niklas Loman
  • Siker Kimbung
Show all

Summary, in English

In early breast cancer, a preoperative core-needle biopsy (CNB) is vital to confirm the malignancy of suspected lesions and for assessing the expression of treatment predictive and prognostic biomarkers in the tumor to choose the optimal treatments, emphasizing the importance of obtaining reliable results when biomarker status is assessed on a CNB specimen. This study aims to determine the concordance between biomarker status assessed as part of clinical workup on a CNB compared to a medically untreated surgical specimen. Paired CNB and surgical specimens from 259 patients that were part of the SCAN-B cohort were studied. The concordance between immunohistochemical (IHC) and gene expression (GEX) based biomarker status was investigated. Biomarkers of interest included estrogen receptor (ER; specifically, the alpha variant), progesterone receptor (PgR), Ki67, HER2, and tumor molecular subtype. In general, moderate to very good correlation in biomarker status between the paired CNB and surgical specimens was observed for both IHC assessment (83–99% agreement, kappa range 0.474–0.917) and GEX assessment (70–97% agreement, kappa range 0.552–0.800), respectively. However, using IHC, 52% of cases with low Ki67 status in the CNB shifted to high Ki67 status in the surgical specimen (McNemar’s p = 0.011). Similarly, when using GEX, a significant shift from negative to positive ER (47%) and from low to high Ki67 (16%) was observed between the CNB and surgical specimen (McNemar’s p = 0.027 and p = 0.002 respectively). When comparing biomarker status between different techniques (IHC vs. GEX) performed on either CNBs or surgical specimens, the agreement in ER, PgR, and HER2 status was generally over 80% in both CNBs and surgical specimens (kappa range 0.395–0.708), but Ki67 and tumor molecular subtype showed lower concordance levels between IHC and GEX (48–62% agreement, kappa range 0.152–0.398). These results suggest that both the techniques used for collecting tissue samples and analyzing biomarker status have the potential to affect the results of biomarker assessment, potentially also impacting treatment decisions and patient survival outcomes

Department/s

  • Breast/ovarian cancer
  • Breast and Ovarian Cancer Genomics
  • Research Group Lung Cancer
  • LUCC: Lund University Cancer Centre
  • The Liquid Biopsy and Tumor Progression in Breast Cancer
  • Breast Cancer Surgery
  • Pathology, Lund
  • Translational Oncogenomics
  • Breastcancer-genetics
  • Familial Breast Cancer
  • Tumor Cell Biology
  • Breast cancer prevention & intervention

Publishing year

2022-08-18

Language

English

Pages

1-16

Publication/Series

Cancers

Volume

14

Issue

16

Document type

Journal article

Publisher

MDPI AG

Topic

  • Cancer and Oncology

Status

Published

Project

  • Sweden Cancerome Analysis Network - Breast (SCAN-B): a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine

Research group

  • Breast and Ovarian Cancer Genomics
  • Research Group Lung Cancer
  • The Liquid Biopsy and Tumor Progression in Breast Cancer
  • Breast Cancer Surgery
  • Translational Oncogenomics
  • Familial Breast Cancer
  • Tumor Cell Biology
  • Breast cancer prevention & intervention

ISBN/ISSN/Other

  • ISSN: 2072-6694