Xanthogranulomatous 上皮瘤/角蛋白阳性巨细胞瘤中鉴定的新型 HMGA2::COL14A1 融合。
Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin-Positive Giant Cell Tumor.
机构信息
Department of Pathology and Laboratory Medicine, Indiana University, Indianapolis, Indiana, USA.
Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin, USA.
出版信息
Genes Chromosomes Cancer. 2024 Nov;63(11):e70010. doi: 10.1002/gcc.70010.
Xanthogranulomatous epithelial tumor (XGET)/Keratin-positive giant cell tumor (KP-GCT) represents a spectrum of recently described neoplasms characterized by a proliferation of distinctive mononuclear cells expressing keratin within a background of osteoclast-like giant cells, mixed inflammatory cells, and a variably prominent xanthogranulomatous component. Recent studies demonstrated a recurrent HMGA2::NCOR2 fusion in many cases. We herein describe a case of XGET/KP-GCT arising in the right femoral head of a 19-year-old male harboring a rare novel HMGA2::COL14A1 fusion.
黄色肉芽肿性上皮肿瘤（XGET）/角蛋白阳性巨细胞瘤（KP-GCT）是一组最近描述的肿瘤，其特征为在破骨样巨细胞背景下存在独特的表达角蛋白的单核细胞增生，伴有混合炎症细胞和不同程度的黄色肉芽肿成分。最近的研究表明，许多病例存在 HMGA2::NCOR2 融合。本文描述了 1 例 19 岁男性右股骨头发生的 XGET/KP-GCT，该患者携带罕见的新型 HMGA2::COL14A1 融合。
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