Abstract：
We report the novel clinical presentation of a primary brain neoplasm in a 30-year-old man with a mass-like area in the anteromedial temporal lobe. Histopathological analysis revealed a low-grade neuroepithelial tumor with cytologically abnormal neurons and atypical glial cells within the cerebral cortex. Molecular analysis showed a previously undescribed FGFR2::DLG5 rearrangement. We discuss the clinical significance and molecular implications of this fusion event, shedding light on its potential impact on tumor development and patient prognosis. Additionally, an extensive review places the finding in this case in the context of protein fusions in brain tumors in general and highlights their diverse manifestations, underlying molecular mechanisms, and therapeutic implications.
摘要：
我们报告了一名30岁男性的原发性脑肿瘤的新颖临床表现，该男性的前内侧颞叶有肿块样区域。组织病理学分析显示，低度神经上皮肿瘤在大脑皮层内有细胞学异常的神经元和非典型的神经胶质细胞。分子分析显示先前未描述的FGFR2::DLG5重排。我们讨论了这种融合事件的临床意义和分子意义，阐明其对肿瘤发展和患者预后的潜在影响。此外,广泛的综述将这种情况下的发现放在一般脑肿瘤中的蛋白质融合的背景下，并强调了它们的不同表现，潜在的分子机制，和治疗意义。
