子宮血管周上皮樣細胞腫瘤（perivascular epithelioid cell tumor, PEComa）是一種罕見腫瘤，其與子宮平滑肌腫瘤在形態(tài)學和免疫表型上具有一定重疊性。本研究中，我們評估了32例PEComa患者的形態(tài)學、免疫組織化學表型和分子特征，包括11例具有侵襲性生物學行為的患者。子宮PEComa顯示2種不同的形態(tài)學：即經(jīng)典型（n=30)和具有淋巴管肌瘤病形態(tài)特征型（n=2)。經(jīng)典型患者年齡范圍為32~77歲（平均51歲），13%伴有結(jié)節(jié)性硬化癥。腫瘤大小為0.2～17cm(平均5.5cm)，77%發(fā)生在宮體。100%的病例可見上皮樣細胞，37%的病例可見梭形細胞。核異型性為低度(53%)、中度(17%）或高度(30%）。核分裂象0～36(平均：6）個/10高倍視野(high-power field, HPF), 0~133(平均：19）個/50HPF, 30%的病例出現(xiàn)非典型核分裂象。100%的病例可見纖細的血管，93%的病例出現(xiàn)透明/嗜酸性和顆粒狀胞質(zhì)，73%的病例有基質(zhì)玻璃樣變性，30%的病例出現(xiàn)壞死以及10%的病例有淋巴血管浸潤。所有腫瘤均表達HMB-45、組織蛋白酶K和至少一種肌源性標記物，絕大多數(shù)表達melan-A (77%)和/或MiTF(79%)。1例顯示PSF-TFE3融合，另1例顯示RAD51B-OPHN1融合。隨訪2～175個月（平均41個月）后，63%的患者存活且情況良好，20%的患者死于疾病，13%的患者帶病生存，3%的患者死于其他病因。具有淋巴管肌瘤病形態(tài)特征型（n=2)患者年齡分別為39歲和49歲，1例伴有結(jié)節(jié)性硬化癥，另1例伴有肺淋巴管肌瘤病。2例患者的腫瘤細胞均表達HMB-45、組織蛋白酶K和肌源性標志物，但缺乏TFE3和RAD51B重排。目前2例患者均存活且情況良好。婦科專用診斷標準(≥4個特征診斷為惡性：大小≥5cm、高度異型性、核分裂>1/50HPF、壞死和淋巴血管浸潤)用于預測預后，可使36%(4/11）的病例被錯誤地診斷為侵襲性腫瘤；因此，推薦修正的診斷標準，即具有3個以上特征的被診斷為惡性PEComa。

Am J Surg Pathol 2018;42:1370-1383

美國外科病理學雜志中文版2019年第二期摘要No.2

桑偉 翻譯 張巍 審校

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