Molecular Profiling of Hyalinizing Clear Cell Carcinomas Revealed a Subset of Tumors Harboring a Novel EWSR1-CREM Fusion: Report of 3 Cases
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu kazuistiky, časopisecké články
- MeSH
- adenokarcinom z jasných buněk genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- modulátor elementu responzivního pro cyklický AMP genetika MeSH
- nádory jazyka genetika patologie MeSH
- nádory nosohltanu genetika MeSH
- nádory plic genetika patologie MeSH
- onkogenní fúze MeSH
- protein EWS vázající RNA genetika MeSH
- senioři MeSH
- stanovení celkové genové exprese MeSH
- transkriptom MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- CREM protein, human MeSH Prohlížeč
- EWSR1 protein, human MeSH Prohlížeč
- modulátor elementu responzivního pro cyklický AMP MeSH
- protein EWS vázající RNA MeSH
We describe a novel gene fusion, EWSR1-CREM, identified in 3 cases of clear cell carcinoma (CCC) using anchored multiplex polymerase chain reaction, a next-generation sequencing-based technique. CCC is a low-grade salivary tumor recently characterized to have EWSR1-ATF1 fusions in the majority of cases. Three cases of malignant tumor presenting in the base of tongue, lung, and nasopharynx were studied. All cases shared a clear cell morphology with hyalinized stroma, presence of mucin and p63 positivity and were initially diagnosed as mucoepidermoid carcinoma but were negative for evidence of any of the expected gene fusions. Anchored multiplex polymerase chain reaction demonstrated a EWSR1-CREM fusion in all 3 cases to confirm a diagnosis of CCC. This finding is biologically justified as CREM and ATF1 both belong to the CREB family of transcription factors. EWSR1-CREM fusions have not been previously reported in CCC and have only rarely been reported in other tumors. We show that the ability to discover novel gene variants with next-generation sequencing-based assays has clinical utility in the pathologic classification of fusion gene-associated tumors.
Anatomic Pathology St Paul's Hospital Vancouver BC Canada
Czech Republic Bioptic Laboratory Ltd Molecular Pathology Laboratory Plzen Czechia
Czech Republic Medicyt Ltd Kosice Slovak Republic
Department of Anatomical Pathology Vancouver General Hospital
Department of Pathology and Laboratory Medicine University of British Columbia
Department of Pathology Beaumont Hospital and the Royal College of Surgeons Dublin Ireland
Department of Pathology Faculty of Medicine in Plzen Charles University
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Molecular pathology in diagnosis and prognostication of head and neck tumors
