Molecular Profiling of Mammary Analog Secretory Carcinoma Revealed a Subset of Tumors Harboring a Novel ETV6-RET Translocation
Alena Skálová(Biopticka Laborator (Czechia)), Tomáš Vaněček(Biopticka Laborator (Czechia)), Petr Martínek(Biopticka Laborator (Czechia)), Ilan Weinreb(University Health Network), Todd M. Stevens(University of Alabama at Birmingham), Roderick H.W. Simpson(University of Calgary), Martin Hyrcza(St. Joseph’s Healthcare Hamilton), Niels J. Rupp(University Hospital of Zurich), Martina Baněčková(Biopticka Laborator (Czechia)), Michael Michal(Charles University), David Slouka(Biopticka Laborator (Czechia)), Tomáš Svoboda(University Health Network), Alena Metelková(University of Alabama at Birmingham), Arghavan Etebarian(Tehran University of Medical Sciences), Jaroslav Pavelka(Biopticka Laborator (Czechia)), Steven J. Potts(Ignyta (United States)), Jason Christiansen(Ignyta (United States)), Petr Šteiner(Biopticka Laborator (Czechia)), Michal Michal(Charles University)
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Abstract
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.
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