Chen Zhao-Jing, Cai Juan, Li Lei, Ji Jiale, Yan Xiao-Chu, Bian Xiu-Wu, Cao Mian-Fu, Duan Guang-Jie
Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, 400038, China.
Department of Nephrology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, 400038, China.
World J Surg Oncol. 2025 May 29;23(1):206. doi: 10.1186/s12957-025-03864-5.
TFE3-rearranged perivascular epithelioid cell tumor (PEComa)-like neoplasm is a recently recognized mesenchymal tumor with melanocytic immunophenotype and TFE3 gene rearrangement, but often lacking smooth muscle differentiation. Herein, we present a case of TFE3-rearranged PEComa-like neoplasm of the kidney to expand its clinicopathological characteristics and biological behavior.
A 22-year-old female presented with left lumbago for more than 20 days. Abdominal computed tomography (CT) scan revealed a heterogeneous mass in the upper pole of the left kidney. Nephron-sparing surgery for renal neoplasia was performed. Histology showed carcinoma-like morphology, characterized by nests of large eosinophilic cells with prominent nucleoli and a rich capillary network. Immunohistochemistry demonstrated HMB45, melan-A, and cathepsin K positivity, focal SMA reactivity, and negativity for Pan-CK and PAX8, prompting an initial diagnosis of epithelioid angiomyolipoma/PEComa. Seventeen months post-surgery, rapid recurrence and multiple metastases occurred. A CT-guided needle biopsy revealed similar histological and immunohistochemical characteristics but with increased mitotic activity and necrosis. Subsequent TFE3 immunohistochemistry and fluorescence in situ hybridization confirmed TFE3 gene rearrangement, revising the diagnosis to TFE3-rearranged PEComa-like neoplasm.
This case enhances our understanding of TFE3-rearranged PEComa-like neoplasm, especially its morphological spectrum and aggressive behavior, which are valuable for diagnosis and prognostic prediction.
TFE3重排的血管周上皮样细胞瘤（PEComa）样肿瘤是一种最近才被认识的间叶性肿瘤，具有黑素细胞免疫表型和TFE3基因重排，但通常缺乏平滑肌分化。在此，我们报告一例肾脏TFE3重排的PEComa样肿瘤，以扩展其临床病理特征和生物学行为。
一名22岁女性因左侧腰痛20余天就诊。腹部计算机断层扫描（CT）显示左肾上极有一不均匀肿块。对肾肿瘤进行了保留肾单位手术。组织学显示为癌样形态，其特征为大嗜酸性细胞巢，核仁突出，毛细血管网丰富。免疫组织化学显示HMB45、黑素A和组织蛋白酶K阳性，局灶性平滑肌肌动蛋白（SMA）反应性，而细胞角蛋白（Pan-CK）和配对盒基因8（PAX8）阴性，初步诊断为上皮样血管平滑肌脂肪瘤/PEComa。术后17个月，出现快速复发和多处转移。CT引导下针吸活检显示组织学和免疫组织化学特征相似，但有丝分裂活性增加和坏死。随后的TFE3免疫组织化学和荧光原位杂交证实了TFE3基因重排，将诊断修正为TFE3重排的PEComa样肿瘤。
该病例增进了我们对TFE3重排的PEComa样肿瘤的理解，尤其是其形态谱和侵袭性行为，这对诊断和预后预测具有重要价值。
