Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Bioxsys Ltd., Czech Republic.
Genes Chromosomes Cancer. 2024 Nov;63(11):e70011. doi: 10.1002/gcc.70011.
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.
近年来，随着人类基因组研究的可能性不断扩大，我们能够将越来越多的软组织肿瘤正确分类并揭示其分子特征。在这些肿瘤中，我们还可以考虑具有特定基因融合的肿瘤，在我们的病例中，即多形性腺瘤基因 1 (PLAG1)及其伙伴。PLAG1 基因融合以前主要与唾液腺多形性腺瘤、脂肪母细胞瘤、肌上皮肿瘤、子宫上皮样、黏液样平滑肌肉瘤相关，最近也与 PLAG1 重排纤维黏液样软组织肿瘤相关。据我们所知，我们报告了首例成人软组织肿瘤中存在 PLAG1 融合基因的病例。在我们的病例中，我们在最初表现为结节性筋膜炎的软组织肿瘤中检测到一种新的 H3-3B::PLAG1 融合。
