MacDonald William, Avenarius Matthew R, Aziz Jenna, Guo Aaron, D'Souza Desmond M, Satturwar Swati, Shilo Konstantin
Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Int J Surg Pathol. 2025 Sep;33(6):1519-1525. doi: 10.1177/10668969251323936. Epub 2025 Mar 13.
Perivascular epithelioid cell tumor (PEComa) belongs to a family of rare mesenchymal neoplasms that share characteristic morphologic, immunohistochemical and molecular findings. In this report, we provide a detailed clinicopathological characterization of a PEComa incidentally discovered in the right lung of a 53-year-old woman. This tumor with epithelioid cell morphology and myomelanocytic differentiation demonstrated a fusion by targeted RNA sequencing. While a subset of PEComas shows rearrangements, fusion with has not been systematically documented in this entity. Clear cell stromal tumor of the lung and epithelioid hemangioendothelioma characteristically display the fusion; however, as currently defined, both lack myomelanocytic features. Here, we describe a novel fusion partner that further expands the spectrum of molecular alterations seen in PEComa.
血管周上皮样细胞肿瘤（PEComa）属于一类罕见的间叶性肿瘤，具有特征性的形态学、免疫组化和分子学表现。在本报告中，我们详细描述了一名53岁女性右肺偶然发现的PEComa的临床病理特征。该肿瘤具有上皮样细胞形态和肌黑色素细胞分化，通过靶向RNA测序显示有融合。虽然一部分PEComas显示有重排，但与的融合在该实体中尚未有系统记录。肺透明细胞间质瘤和上皮样血管内皮瘤典型地表现出融合；然而，按照目前的定义，两者均缺乏肌黑色素细胞特征。在此，我们描述了一种新的融合伙伴，进一步扩展了PEComa中所见分子改变的范围。
