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The implementation of a commercially available multi-gene profile test for breast cancer characterization in a department of pathology: what have we learned from the first 100 cases?

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Abstract

Analysis of breast cancer prognostic and predictive factors is still nowadays poorly accurate and standardized. The advent of multi-gene expression profiles (MGEPs) has improved the prediction of breast cancer outcome, particularly regarding early luminal breast cancers (LBCs). The availability in our Institute of EndoPredict® (EP), a last-generation prognostic gene signature assay, has prompted us to study a series of LBCs, firstly verifying its reproducibility on six routine representative cases, either presenting non-optimal preanalytical conditions or different tumor samples from the same patient; secondly, correlating EP results on 8 retrospectively recruited samples with patients’ follow-up; thirdly, applying prospectively EP on 100 routinely diagnosed cases, assessing the oncologists’ and pathologists’ attitude toward it. The complete reproducibility of EP on all the samples investigated in the first phase allowed to state that EP overcomes the detrimental effects of an inaccurate pre-analytic phase, determining the most appropriate prognostic and predictive parameters of breast cancer. The second phase confirmed EP as a fundamental tool in guiding therapeutic decision, improving the classical bio-pathological characterization and recovering 38% patients’ inadequately managed. Finally, the study disclosed how oncologists sometimes inadequately requested EP, but also how it allows a better stratification of breast cancer otherwise considered poorly aggressive and not requiring an EP test, such as G1 neoplasms or tubular histotype. In conclusion, the introduction of EP test in an Anatomic Pathology Department emerges as a useful tool in routine breast cancer diagnosis, both for the characterization of individual cases and, as a result, for more appropriate therapeutic choices.

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Data availability

The request for accessing the properly anonymized datasets analyzed in this article can be directed to Professor Angelo Sidoni: angelo.sidoni@unipg.it.

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Author notes

  1. Cristina Pelliccia and Emanuele Caselli contributed equally to this work.

Authors and Affiliations

  1. Department of Experimental Medicine, Section of Anatomic Pathology and Histology, Medical School, University of Perugia, P.le Menghini 1, Perugia, 06129, Italy

    Cristina Pelliccia, Emanuele Caselli, Martina Mandarano, Rachele Del Sordo, Guido Bellezza & Angelo Sidoni

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  1. Cristina Pelliccia
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  2. Emanuele Caselli
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Contributions

All the authors have contributed to both conception, design of the study, acquisition, analysis, and interpretation of data, either drafting the article or revising it critically. All the authors have read and approved the submitted version of the manuscript.

Corresponding author

Correspondence to Martina Mandarano.

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All procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Conflict of interest

Dr. Sidoni received speaker’s fees from Myriad Genetics. The other authors declare that they have no conflict of interest.

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Pelliccia, C., Caselli, E., Mandarano, M. et al. The implementation of a commercially available multi-gene profile test for breast cancer characterization in a department of pathology: what have we learned from the first 100 cases?. Virchows Arch 478, 1079–1087 (2021). https://doi.org/10.1007/s00428-020-02994-3

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