Novel targetable biomarkers in clear cell carcinoma of the breast uncovered by molecular profiling: A study of nine cases.


Journal

The breast journal
ISSN: 1524-4741
Titre abrégé: Breast J
Pays: United States
ID NLM: 9505539

Informations de publication

Date de publication:
09 2020
Historique:
received: 13 03 2020
accepted: 27 03 2020
pubmed: 13 4 2020
medline: 22 6 2021
entrez: 13 4 2020
Statut: ppublish

Résumé

We profiled nine pure clear cell carcinomas of the breast using massively parallel DNA and RNA sequencing (NGS), in situ hybridization (ISH), and immunohistochemistry (IHC). All cases were primary mammary clear cell carcinomas that were diagnosed in female patients (mean age: 53.4 years; range: 31-69 years). Based on our findings, we conclude that the majority of clear cell carcinomas are ER/PR positive and consequently amenable to anti-ER treatment modalities. A subset of clear cell carcinomas also harbored alterations in PIK3CA/PTEN/AKT pathway, particularly PTEN, indicating a potential benefit of PI3K/Akt/mTOR inhibitors. The status of I-O biomarkers in clear cell carcinomas indicates a limited therapeutic benefit of immune checkpoint inhibitors (against PD-1/PD-L1).

Identifiants

pubmed: 32279409
doi: 10.1111/tbj.13842
pmc: PMC7586831
doi:

Substances chimiques

Biomarkers 0
Biomarkers, Tumor 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1781-1783

Informations de copyright

© 2020 The Authors. The Breast Journal published by Wiley Periodicals LLC.

Références

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Auteurs

Faruk Skenderi (F)

Department of Pathology, Clinical Center, University of Sarajevo, Sarajevo, Bosnia and Herzegovina.

Juan Palazzo (J)

Baptist Hospital of Miami, Miami, FL, USA.

Jeffrey Swensen (J)

Caris Life Sciences, Phoenix, AZ, USA.

Rebecca Feldman (R)

Caris Life Sciences, Phoenix, AZ, USA.

Elma Contreras (E)

Caris Life Sciences, Phoenix, AZ, USA.

Elena Florento (E)

Caris Life Sciences, Phoenix, AZ, USA.

Zoran Gatalica (Z)

Caris Life Sciences, Phoenix, AZ, USA.
Creighton University School of Medicine, Phoenix, AZ, USA.

Semir Vranic (S)

College of Medicine, QU Health, Qatar University, Doha, Qatar.

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Classifications MeSH