Chen Cuimin, Lu Junliang, Wu Huanwen
Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
Department of Pathology, Peking Union Medical College Hospital, Peking, China.
Front Oncol. 2022 Sep 6;12:935914. doi: 10.3389/fonc.2022.935914. eCollection 2022.
Gastroblastoma is a rare biphasic tumor of the stomach that generally presents in young patients. - gene fusion was considered to be the characteristic molecular alteration of this tumor in previous reports. Herein, we described a 58-year-old man with a mass mainly located in the submucosa of the stomach. Microscopic examination showed a biphasic morphology with the same immunohistochemical phenotype as gastroblastoma. Interestingly, a novel fusion rather than fusion was detected in the tumor by RNA-based next generation sequencing (NGS). This was the first report that demonstrated a novel gene fusion in gastroblastoma, and thus expanded the molecular spectrum of this tumor. The underlying pathogenesis merits further investigation.
胃母细胞瘤是一种罕见的胃部双相肿瘤,通常发生于年轻患者。在以往的报道中,基因融合被认为是这种肿瘤的特征性分子改变。在此,我们描述了一名58岁男性,其肿块主要位于胃黏膜下层。显微镜检查显示为双相形态,免疫组化表型与胃母细胞瘤相同。有趣的是,通过基于RNA的二代测序(NGS)在肿瘤中检测到一种新的融合而非融合。这是首次报道在胃母细胞瘤中发现新的基因融合,从而扩展了该肿瘤的分子谱。其潜在的发病机制值得进一步研究。