We present the clinicopathological and molecular genetic characteristics of a neuroepithelial tumor (NET), EWSR1::PATZ1 fusion-positive with a literature review. This fusion has recently been discovered in rare central nervous system tumors and soft tissue sarcomas and was not included in the fifth edition of the WHO classifications. We identified this fusion in 2 NETs. The first case involved a 7-year-old girl and the second case occurred in a 53-year-old man; both presented with headaches and vomiting. The pediatric case initially showed an intermediate grade of the tumor, but upon recurrences, it transformed into a high-grade tumor with 2 relapses in 8.3 years. This case exhibited high mitotic activity (20/10 high-power fields), and a high Ki-67 index (21%). The TERT promoter (TERTp) mutation was present in both initial and recurrent tumors. In contrast, the adult case was a low-grade tumor with no mitotic activity or recurrence over 13.5 months after subtotal resection and gamma knife surgery. Interestingly, the pediatric case demonstrated a longer survival time compared to conventional glioblastoma. The TERTp mutation, similar to being a molecular signature in adult-type glioblastoma, could also be an indicator of high-grade behavior in PATZ1 fusion NET.

中文翻译：

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具有 EWSR1::PATZ1 融合的神经上皮肿瘤：文献综述。

我们通过文献综述介绍了 EWSR1::PATZ1 融合阳性神经上皮肿瘤 (NET) 的临床病理学和分子遗传学特征。最近在罕见的中枢神经系统肿瘤和软组织肉瘤中发现了这种融合，但并未包含在第五版世界卫生组织分类中。我们在 2 个 NET 中发现了这种融合。第一宗个案涉及一名7岁女童，第二宗个案涉及一名53岁男子；两人均出现头痛和呕吐症状。该儿科病例最初为中度肿瘤，但复发后转变为高度肿瘤，8.3年内复发了2次。该病例表现出高有丝分裂活性（20/10高倍视野）和高Ki-67指数（21%）。TERT 启动子 (TERTp) 突变存在于初始肿瘤和复发肿瘤中。相比之下，成人病例是低度肿瘤，在次全切除和伽玛刀手术后 13.5 个月内没有有丝分裂活性或复发。有趣的是，与传统的胶质母细胞瘤相比，该儿科病例的生存时间更长。TERTp 突变类似于成人型胶质母细胞瘤的分子特征，也可能是 PATZ1 融合 NET 高级行为的指标。