PEComa-like Neoplasms Characterized by ASPSCR1-TFE3 Fusion: Another Face of TFE3-related Mesenchymal Neoplasia.
PEComa-like Neoplasms Characterized by ASPSCR1-TFE3 Fusion: Another Face of TFE3-related Mesenchymal Neoplasia.
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DOI：
10.1097/pas.0000000000001894
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发表时间：
2022-08-01
影响因子：
5.6
通讯作者：
Antonescu, Cristina R.
中科院分区：
文献类型：
--
作者：
Argani, Pedram;Wobker, Sara E.;Gross, John M.;Matoso, Andres;Fletcher, Christopher D. M.;Antonescu, Cristina R.
相同的TFE3相关基因融合可在肾细胞癌和间充质肿瘤如肺泡软组织肉瘤和TFE3重排PEComa中发现。在间充质肿瘤中，ASPSCR1-TFE3基因融合以前只在肺泡软组织肉瘤中被描述过。我们报告了三种不同寻常的间充质肿瘤携带ASPSCR1-TFE3基因融合，其形态表型更接近PEComa而不是肺泡软组织肉瘤。这3例肿瘤均发生于18至34岁的女性，均位于脏器（肾、膀胱和子宫）。这三种细胞都含有由纤维血管间隔包围的上皮样细胞巢。然而，所有病例均伴有间质透明化，巢状结构紧密，梭形细胞和上皮样结构混合，细胞质透明，缺乏明显的脱落。整体形态特征与PEComa相似，不同于典型的肺泡软组织肉瘤表型。虽然没有肿瘤标记为HMB45，细胞角蛋白或PAX8，但所有肿瘤均显示TFE3和组织蛋白酶K阳性，除一例外，所有肿瘤均呈SMA阳性。1例患者在肾切除术后7年发生肝转移。这些病例填补了两种TFE3重排肿瘤，特别是肺泡软组织肉瘤和Xp11易位PEComa之间的空白，突出了Xp11易位肿瘤之间的相关性和重叠性。虽然大多数TFE3重排肿瘤可以确定地归为特定的诊断类别，如肺泡软部肉瘤、PEComa或Xp11易位性肾细胞癌，但偶尔病例具有重叠特征，突出了起源细胞和特定基因融合在这些肿瘤表型中的潜在作用。
Identical TFE3 related gene fusions may be found in renal cell carcinoma and mesenchymal neoplasms such as alveolar soft part sarcoma and TFE3-rearranged PEComa. Among mesenchymal neoplasms, the ASPSCR1-TFE3 gene fusion has previously been described only in alveolar soft part sarcoma. We report three unusual mesenchymal neoplasms harboring the ASPSCR1-TFE3 gene fusion, the morphologic phenotype of which more closely matches PEComa rather than alveolar soft part sarcoma. All three neoplasms occurred in females ranging in age from 18 to 34 years and were located in the viscera (kidney, bladder and uterus). All three contained nests of epithelioid cells bounded by fibrovascular septa. However, all were associated with hyalinized stroma, tight nested architecture, mixed spindle cell and epithelioid pattern, clear cytoplasm, and lacked significant discohesion. Overall morphologic features closely resembled PEComa, being distinct from typical alveolar soft part sarcoma phenotype. While none of the neoplasms labeled for HMB45, Cytokeratin, or PAX8, all showed positivity for TFE3 and cathepsin K, and all except one were positive for SMA. One patient developed a liver metastasis 7 years after nephrectomy. These cases bridge the gap between two TFE3 rearranged neoplasms, specifically alveolar soft part sarcoma and Xp11 translocation PEComa, highlighting the relatedness and overlap among Xp11 translocation neoplasms. While most TFE3 rearranged neoplasms can be confidently placed into a specific diagnostic category such as alveolar soft part sarcoma, PEComa, or Xp11 translocation renal cell carcinoma, occasional cases have overlapping features, highlighting the potential role that the cell of origin and the specific gene fusion play in the phenotype of these neoplasms.