已经报道了含有 Xp11.2 易位的极其罕见的原发性肾血管周围上皮样细胞瘤 (PEComas) 的子集，但尚未发表专门讨论该主题的更大系列文章。我们描述了 10 种肾 PEComas 的临床病理学和分子特征，这些特征来自于我们的日常和咨询文件。其中有 5 名女性和 5 名男性患者，年龄 14-65 岁（中位年龄：32 岁）。一名患者有儿童期神经母细胞瘤病史，但尚无患者患有结节性硬化症或其他遗传性疾病。完全手术切除是所有患者的治疗方法。对 5 名患者的现有随访表明 4/5 病例的结果良好。肿瘤大小范围为 2.8 至 15.2 厘米（中位值 5.2 厘米）。免疫组织化学显示所有肿瘤中 TFE3 均持续强表达，而 PAX8 和角蛋白混合物均呈阴性。其他阳性标记物包括 HMB45（7/9 肿瘤）、CathepsinK（7/9 肿瘤）和 CD117 (KIT)（3/5 肿瘤）。在 8/9 的肿瘤中检测到 TFE3 重排（通过靶向 RNA 测序检测到 7 个肿瘤，通过 FISH 检测到 1 个肿瘤）。确定的融合伙伴包括 SFPQ (n = 2) 和一个肿瘤，各具有 ASPSCR1、ZC3H4、MED15、RBMX 和 PRCC。通过新一代测序 (NGS) 和荧光原位杂交 (FISH) 检测一种缺乏 TFE3 重排的肿瘤，基于 DNA 的 NGS 揭示了涉及 PKD1 和 TSC2 的染色体内大缺失。这项研究强调了 TFE3 重排原发肿瘤的形态和遗传多样性肾 PEComas 并强调了替代 TFE3 免疫组织化学在识别它们方面的价值。 PAX8 和角蛋白表达的缺乏是区分这些肿瘤与 MiTF 相关肾细胞癌的主要依据。此外，我们报告了 PEComa 中罕见的（ZC3H4、RBMX）和新颖的（MED15）TFE3 融合伙伴。© 2024 作者。组织病理学由约翰·威利出版

A subset of exceptionally rare primary renal perivascular epithelioid cell tumours (PEComas) that harbour Xp11.2 translocation have been reported, but no larger series devoted to this topic have been published.We describe the clinicopathological and molecular features of 10 renal PEComas, collected from our routine and consultation files. There were five female and five male patients aged 14-65 (median: 32 years). One patient had a history of childhood neuroblastoma, but no patients were known to have a tuberous sclerosis complex or other hereditary disorder. Complete surgical excision was the treatment for all patients. The available follow-up in five patients indicated a favourable outcome in 4/5 cases. Tumour size ranged from 2.8 to 15.2 cm (median, 5.2 cm). Immunohistochemistry revealed consistently strong TFE3 expression in all tumours, whereas PAX8 and keratin cocktails were uniformly negative. Other positive markers included HMB45 (7/9 tumours), CathepsinK (7/9 tumours), and CD117 (KIT) (3/5 tumours). TFE3 rearrangements were detected in 8/9 tumours (by targeted RNA sequencing in seven and by FISH in one). The identified fusion partners included SFPQ (n = 2) and one tumour each with ASPSCR1, ZC3H4, MED15, RBMX, and PRCC. One tumour that lacked TFE3 rearrangement by next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH) revealed a large intrachromosomal deletion involving PKD1 and TSC2 by DNA-based NGS.This study highlights the morphologic and genetic diversity of TFE3-rearranged primary renal PEComas and underlines the value of surrogate TFE3 immunohistochemistry in identifying them. The lack of PAX8 and keratin expression represents the mainstay for distinguishing these tumours from MiTF-associated renal cell carcinomas. In addition, we report rare (ZC3H4, RBMX) and novel (MED15) TFE3 fusion partners in PEComa.© 2024 The Author(s). Histopathology published by John Wiley & Sons Ltd.