表现为皮下肿块的恶性 TFE3 重排的血管周上皮样细胞肿瘤（PEComa）。
Malignant TFE3-rearranged perivascular epithelioid cell neoplasm (PEComa) presenting as a subcutaneous mass.
机构信息
Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, 4800 SW 35th Drive, PO Box 100275, Gainesville, FL, 32610, U.S.A.
Laboratory of Medicine and Pathology, Mayo Clinic, 200 1st Street, Rochester, MN 55905, U.S.A.
出版信息
Br J Dermatol. 2016 Mar;174(3):617-20. doi: 10.1111/bjd.14173. Epub 2015 Nov 24.
Perivascular epithelioid cell neoplasms (PEComas) are a group of mesenchymal tumours with concurrent melanocytic and myogenic differentiation. Although many cases are sporadic, PEComas can be associated with tuberous sclerosis. A distinct subset of deep-seated PEComas has been shown to carry TFE3 fusions. To our knowledge, this is the first reported case of primary subcutaneous malignant PEComa with molecular confirmation of TFE3 gene rearrangement.
血管周上皮样细胞肿瘤（PEComas）是一组具有黑色素细胞和肌源性分化特征的间叶性肿瘤。虽然许多病例是散发性的，但PEComas 可与结节性硬化症相关。已经证实深部 PEComas 的一个明显亚组存在 TFE3 融合。据我们所知，这是首例经分子证实存在 TFE3 基因重排的原发性皮下恶性 PEComa 病例报告。
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