Abstract
BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSIONS: 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.