Nejvíce citovaný článek - PubMed ID 32918527
Novel ZEB2-PLAG1 fusion gene identified by RNA sequencing in a case of lipoblastoma
With the expanding possibilities of human genome research in recent years, the number of cases of soft tissue tumors that we are able to classify into the correct subgroups and to reveal their molecular profile is increasing. Among such tumors, we can also consider neoplasms that have a specific fusion of genes, in our case namely the pleomorphic adenoma gene 1 (PLAG1) and its partner. PLAG1 gene fusions were previously associated mainly with salivary gland pleomorphic adenomas, lipoblastomas, myoepithelial tumors, uterine epitheloid, myxoid leiomyosarcomas, and, recently, with PLAG1-rearranged fibromyxoid soft tissue tumors. To our knowledge, we report the first case of a soft tissue tumor with a PLAG1 fusion gene in an adult. In our case, we detected a new H3-3B::PLAG1 fusion in a soft tissue tumor, which originally appeared as nodular fasciitis.
- Klíčová slova
- H3‐3B, PLAG1, NGS, fibromyxoid soft tissue tumor, mesenchymal neoplasm, nodular fasciitis,
- MeSH
- DNA vazebné proteiny * genetika MeSH
- dospělí MeSH
- fibrom genetika patologie MeSH
- fúze genů MeSH
- fúzní onkogenní proteiny genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory měkkých tkání * genetika patologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- DNA vazebné proteiny * MeSH
- fúzní onkogenní proteiny MeSH
- PLAG1 protein, human MeSH Prohlížeč