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Case report
peer-reviewed

Limitations of Personalized Medicine and Gene Assays for Breast Cancer



Abstract

Adjuvant systemic treatments reduce the risk of breast cancer recurrence following the local treatment of primary stage I-III breast cancers. For patients with hormone-positive breast cancers receiving hormonal therapy, the risk of distant recurrence is under 20% and therefore, many patients may potentially be spared of chemotherapy. Consequently, several molecular signatures based on gene expression were developed to better determine which breast cancer patients would benefit from chemotherapy.

We present the case of a 62-year-old woman diagnosed with an early stage hormone receptor-positive breast cancer that was treated with a partial mastectomy. Oncotype DX (Genomic Health, Redwood City, CA) molecular testing was performed on the surgical specimen, which reported a recurrence score of 0. The patient commenced adjuvant radiotherapy during which she developed symptoms suggestive of bone metastasis and was subsequently diagnosed with a spinal cord compression that required neurosurgery and radiotherapy. Pathology review of the specimen from the spine surgery revealed a metastatic breast carcinoma with neuroendocrine differentiation.

Molecular assays such as Oncotype DX are increasingly used to prognosticate patient outcomes and help determine who may avoid chemotherapy. This case report seeks to illustrate that such assays should not be used in the presence of rare histological subtypes like neuroendocrine breast cancers, which are often under-reported. The current status of personalized medicine and gene assays in breast cancer is reviewed and potential strategies are suggested to identify these rare cases to better orient diagnostic and treatment decisions.



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Case report
peer-reviewed

Limitations of Personalized Medicine and Gene Assays for Breast Cancer


Author Information

David Tiberi Corresponding Author

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

Laura Masucci

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

Daniel Shedid

Department of Surgery-Neurosurgery Service, Centre hospitalier de l'Université de Montréal (CHUM)

Isabelle Roy

Department of Radiation Oncology, Cité De La Santé De Montréal, Université de Montréal

Toni Vu

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

Erica Patocskai

Department of Surgery, Centre hospitalier de l'Université de Montréal (CHUM)

André Robidoux

Department of Surgery, Centre Hospitalier De L'université De Montréal (CHUM) Notre Dame

Philip Wong

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)


Ethics Statement and Conflict of Interest Disclosures

Human subjects: Consent was obtained by all participants in this study. Conflicts of interest: The authors have declared the following conflicts of interest: Financial relationships: Philip Wong declare(s) a grant, personal fees, non-financial support and Financial Relationship from AstraZeneca. Philip Wong received research funding from AstraZeneca. Philip Wong declare(s) a grant, personal fees, non-financial support and Financial Relationship from Bristol-Myers Squibb . Philip Wong served as a medical advisor for Bristol-Myers Squibb and was compensated for his travel expenses to a meeting.Philip Wong received research funding from Bristol-Myers Squibb.

Acknowledgements

Philip Wong declare(s) a grant, personal fees and non-financial support from Bristol-Myers Squibb and AstraZeneca. Philip Wong served as a medical advisor for Bristol-Myers Squibb and was compensated for his travel expenses to a meeting. Philip Wong received research funding from Bristol-Myers Squibb and AstraZeneca.


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Case report
peer-reviewed

Limitations of Personalized Medicine and Gene Assays for Breast Cancer

  • Author Information
    David Tiberi Corresponding Author

    Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

    Laura Masucci

    Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

    Daniel Shedid

    Department of Surgery-Neurosurgery Service, Centre hospitalier de l'Université de Montréal (CHUM)

    Isabelle Roy

    Department of Radiation Oncology, Cité De La Santé De Montréal, Université de Montréal

    Toni Vu

    Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

    Erica Patocskai

    Department of Surgery, Centre hospitalier de l'Université de Montréal (CHUM)

    André Robidoux

    Department of Surgery, Centre Hospitalier De L'université De Montréal (CHUM) Notre Dame

    Philip Wong

    Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)


    Ethics Statement and Conflict of Interest Disclosures

    Human subjects: Consent was obtained by all participants in this study. Conflicts of interest: The authors have declared the following conflicts of interest: Financial relationships: Philip Wong declare(s) a grant, personal fees, non-financial support and Financial Relationship from AstraZeneca. Philip Wong received research funding from AstraZeneca. Philip Wong declare(s) a grant, personal fees, non-financial support and Financial Relationship from Bristol-Myers Squibb . Philip Wong served as a medical advisor for Bristol-Myers Squibb and was compensated for his travel expenses to a meeting.Philip Wong received research funding from Bristol-Myers Squibb.

    Acknowledgements

    Philip Wong declare(s) a grant, personal fees and non-financial support from Bristol-Myers Squibb and AstraZeneca. Philip Wong served as a medical advisor for Bristol-Myers Squibb and was compensated for his travel expenses to a meeting. Philip Wong received research funding from Bristol-Myers Squibb and AstraZeneca.


    Article Information

    Published: March 17, 2017

    DOI

    10.7759/cureus.1100

    Cite this article as:

    Tiberi D, Masucci L, Shedid D, et al. (March 17, 2017) Limitations of Personalized Medicine and Gene Assays for Breast Cancer. Cureus 9(3): e1100. doi:10.7759/cureus.1100

    Publication history

    Received by Cureus: January 25, 2017
    Peer review began: February 01, 2017
    Peer review concluded: March 10, 2017
    Published: March 17, 2017

    Copyright

    © Copyright 2017
    Tiberi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 3.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

    License

    This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Adjuvant systemic treatments reduce the risk of breast cancer recurrence following the local treatment of primary stage I-III breast cancers. For patients with hormone-positive breast cancers receiving hormonal therapy, the risk of distant recurrence is under 20% and therefore, many patients may potentially be spared of chemotherapy. Consequently, several molecular signatures based on gene expression were developed to better determine which breast cancer patients would benefit from chemotherapy.

We present the case of a 62-year-old woman diagnosed with an early stage hormone receptor-positive breast cancer that was treated with a partial mastectomy. Oncotype DX (Genomic Health, Redwood City, CA) molecular testing was performed on the surgical specimen, which reported a recurrence score of 0. The patient commenced adjuvant radiotherapy during which she developed symptoms suggestive of bone metastasis and was subsequently diagnosed with a spinal cord compression that required neurosurgery and radiotherapy. Pathology review of the specimen from the spine surgery revealed a metastatic breast carcinoma with neuroendocrine differentiation.

Molecular assays such as Oncotype DX are increasingly used to prognosticate patient outcomes and help determine who may avoid chemotherapy. This case report seeks to illustrate that such assays should not be used in the presence of rare histological subtypes like neuroendocrine breast cancers, which are often under-reported. The current status of personalized medicine and gene assays in breast cancer is reviewed and potential strategies are suggested to identify these rare cases to better orient diagnostic and treatment decisions.



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Create a free account to continue reading this article.

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David Tiberi

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

For correspondence:
david.tiberi@umontreal.ca

Laura Masucci

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

Daniel Shedid

Department of Surgery-Neurosurgery Service, Centre hospitalier de l'Université de Montréal (CHUM)

Isabelle Roy

Department of Radiation Oncology, Cité De La Santé De Montréal, Université de Montréal

Toni Vu

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

Erica Patocskai

Department of Surgery, Centre hospitalier de l'Université de Montréal (CHUM)

André Robidoux

Department of Surgery, Centre Hospitalier De L'université De Montréal (CHUM) Notre Dame

Philip Wong

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

David Tiberi

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

For correspondence:
david.tiberi@umontreal.ca

Laura Masucci

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

Daniel Shedid

Department of Surgery-Neurosurgery Service, Centre hospitalier de l'Université de Montréal (CHUM)

Isabelle Roy

Department of Radiation Oncology, Cité De La Santé De Montréal, Université de Montréal

Toni Vu

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)

Erica Patocskai

Department of Surgery, Centre hospitalier de l'Université de Montréal (CHUM)

André Robidoux

Department of Surgery, Centre Hospitalier De L'université De Montréal (CHUM) Notre Dame

Philip Wong

Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal (CHUM)