Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion-The First Case in an Adult Patient.

Autor: Strnadová M; Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Balko J; Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Brož P; Bioxsys Ltd., Czech Republic.; Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Wagenknecht L; Department of Adult and Pediatric Orthopedic Surgery and Traumatology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Krsková L; Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Jazyk: angličtina
Zdroj: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Nov; Vol. 63 (11), pp. e70011.
DOI: 10.1002/gcc.70011
Abstrakt: 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.
(© 2024 The Author(s). Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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