Since their original description as a distinctive neoplastic entity, ~50 TFE3-rearranged perivascular epithelioid cell tumors (PEComas) have been reported. We herein report 25 new TFE3-rearranged PEComas and review the published literature to further investigate their clinicopathologic spectrum. Notably, 5 of the 25 cases were associated with a prior history of chemotherapy treatment for cancer. This is in keeping with prior reports, based mainly on small case series, with overall 11% of TFE3-rearranged PEComas being diagnosed postchemotherapy. The median age of our cohort was 38 years. Most neoplasms demonstrated characteristic features such as nested architecture, epithelioid cytology, HMB45 positive, and muscle marker negative immunophenotype. SFPQ was the most common TFE3 fusion partner present in half of the cases, followed by ASPSCR1 and NONO genes. Four of 7 cases in our cohort with meaningful follow-up presented with or developed systemic metastasis, while over half of the reported cases either recurred locally, metastasized, or caused patient death. Follow-up for the remaining cases was limited (median 18.5 months), suggesting that the prognosis may be worse. Size, mitotic activity, and necrosis were correlated with aggressive behavior. There is little evidence that treatment with MTOR inhibitors, which are beneficial against TSC-mutated PEComas, is effective against TFE3-rearranged PEComas: only one of 6 reported cases demonstrated disease stabilization. As co-expression of melanocytic and muscle markers, a hallmark of conventional TSC-mutated PEComa is uncommon in the spectrum of TFE3-rearranged PEComa, an alternative terminology may be more appropriate, such as "TFE3-rearranged PEComa-like neoplasms," highlighting their distinctive morphologic features and therapeutic implications.

中文翻译：

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TFE3 重排的 PEComa/PEComa 样肿瘤：25 例新病例的报告扩大了临床病理学谱并强调其与先前接受化疗的关联。


自从最初将其描述为一种独特的肿瘤实体以来，已有约 50 个 TFE3 重排的血管周围上皮样细胞肿瘤 (PEComas) 被报道。我们在此报告了 25 种新的 TFE3 重排 PEComas 并回顾了已发表的文献以进一步研究其临床病理学谱。值得注意的是，25 例中有 5 例有癌症化疗史。这与之前的报告一致，主要基于小病例系列，总共有 11% 的 TFE3 重排 PEComas 在化疗后被诊断出来。我们队列的中位年龄为 38 岁。大多数肿瘤表现出诸如巢状结构、上皮样细胞学、HMB45 阳性和肌肉标志物阴性免疫表型等特征。 SFPQ 是半数病例中最常见的 TFE3 融合伴侣，其次是 ASPSCR1 和 NONO 基因。在我们进行有意义随访的队列中，7 例病例中有 4 例出现或出现全身转移，而超过一半的报告病例要么局部复发、转移，要么导致患者死亡。其余病例的随访时间有限（中位 18.5 个月），表明预后可能更差。大小、有丝分裂活性和坏死与攻击行为相关。几乎没有证据表明 MTOR 抑制剂治疗（对 TSC 突变的 PEComas 有益）对 TFE3 重排的 PEComas 有效：6 例报告病例中只有 1 例显示疾病稳定。 作为黑素细胞和肌肉标记物的共表达，传统 TSC 突变 PEComa 的标志在 TFE3 重排 PEComa 谱系中并不常见，替代术语可能更合适，例如“TFE3 重排 PEComa 样肿瘤”，强调它们独特的形态特征和治疗意义。