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Molecular Profiling of Mammary Analog Secretory Carcinoma Revealed a Subset of Tumors Harboring a Novel ETV6-RET Translocation: Report of 10 Cases

Skalova, Alena, MD, PhD*,†; Vanecek, Tomas, PhD; Martinek, Petr, PhD; Weinreb, Ilan, MD§; Stevens, Todd, M., PhD; Simpson, Roderick, H.W., MD, MB, ChB, FRCPath; Hyrcza, Martin, MD, PhD#; Rupp, Niels, J., MD**; Baneckova, Martina, MD*,†; Michal, Michael, Jr, MD*,††; Slouka, David, MD, MBA, PhD‡‡; Svoboda, Tomas, MD, PhD§§; Metelkova, Alena, MD, PhD∥∥; Etebarian, Arghavan, DDS, OMP¶¶; Pavelka, Jaroslav, PhD‡,##; Potts, Steven, J., PhD***; Christiansen, Jason, PhD***; Steiner, Petr, MSc*,‡; Michal, Michal, MD*

The American Journal of Surgical Pathology: February 2018 - Volume 42 - Issue 2 - p 234–246
doi: 10.1097/PAS.0000000000000972
Original Articles

ETV6 gene abnormalities are well described in tumor pathology. Many fusion partners of ETV6 have been reported in a variety of epithelial, mesenchymal, and hematological malignancies. In salivary gland tumor pathology, however, the ETV6-NTRK3 translocation is specific for (mammary analog) secretory carcinoma, and has not been documented in any other salivary tumor type. The present study comprised a clinical, histologic, and molecular analysis of 10 cases of secretory carcinoma, with typical morphology and immunoprofile harboring a novel ETV6-RET translocation.

Departments of *Pathology

‡‡Otorhinolaryngology

§§Oncology and Radiotherapy, Oncological Clinic

∥∥Clinical Oncology, Oncological Clinic, Faculty of Medicine in Plzen

††Biomedical Center, Faculty of Medicine in Pilsen, Charles University

Bioptic Laboratory Ltd

Bioptic Laboratory Ltd, Molecular Pathology Laboratory

##Faculty of Education, University of West Bohemia, Plzen, Czech Republic

§Department of Pathology, University Health Network, Toronto, ON, Canada

Department of Pathology, University of Alabama at Birmingham, Birmingham, AL

Department of Anatomical Pathology, University of Calgary and Foothills Medical Centre, Calgary, AB

#Department of Pathology and Molecular Medicine, St. Joseph’s Healthcare & Hamilton Health Sciences, McMaster University, Vancouver, BC, Canada

**Department of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland

¶¶Department of Oral and Maxillofacial Pathology, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran

***Ignyta Inc. San Diego, California, United States

Conflicts of Interest and Source of Funding: Supported in parts by the National Sustainability Program I (NPU I) Nr. LO1503 and by the grant SVV–2017 No. 260 391 provided by the Ministry of Education Youth and Sports of the Czech Republic. The NGS analysis was in part supported by Ignyta Inc., San Diego, CA. The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.

Correspondence: Alena Skalova, MD, PhD, Sikl’s Department of Pathology, Medical Faculty of Charles University, Faculty Hospital, E. Benese 13, Plzen 305 99, Czech Republic (e-mail: skalova@fnplzen.cz).

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