【摘要】 目的:探讨延胡索酸水合酶缺陷型子宫平滑肌瘤(fumarate hydratase-deficient uterine leiomyoma, FH-DUL)的临床病理特点以及鉴别诊断。方法:回顾性分析9例确诊的FH-DUL临床病理资料，总结其形态学特点，进行免疫组织化学分析和鉴别诊断，复习相关文献。结果:9例FH-DUL患者临床上与一般子宫平滑肌瘤无异，光镜下观察组织散在分布血管外皮瘤样血管，间质呈肺泡状水肿，局灶或弥漫分布奇异型细胞、细胞质内嗜酸性小球、嗜酸性大核仁及核周空晕。免疫化学染色：FH表达缺失，2SC阳性，Ki-67阳性指数1%～3%。所有病例均获得随访，患者未见复发且无疾病进展证据。结论:FH-DUL病理形态学和免疫表型与恶性潜能未定的平滑肌肿瘤(smooth muscle tumor of uncertain malignant potential, STUMP)均有重叠，镜下易相互混淆。肿瘤组织中鹿角样血管、疏松水肿区、胞质内嗜酸性小球等是该肿瘤的重要组织学特征，对FH-DUL的诊断有重要提示作用。免疫组织化学有助于该肿瘤的诊断和鉴别诊断，必要时行FH基因检测以辅助诊断。更多还原

【Abstract】 Objective:To investigate the clinicopathological features and differential diagnosis of fumarate hydratase-deficient uterine leiomyoma(FH-DUL).Methods:The clinicopathological data of 9 cases with confirmed FH-DUL were retrospectively analyzed to characterize their morphological features, and perform immunohistochemical analysis and differential diagnosis, and the relevant literatures were reviewed.Results:The 9 cases of FH-DUL were clinically similar to the normal uterine leiomyoma.Histologically, the tissue was composed of scattered hemangiopericytoma-like vessels, alveolar pattern edema, focal or diffuse distribution of bizarre cells, cytoplasmic eosinophilic globules, eosinophilic nucleoli and perinuclear halos.Immunohistochemical staining showed that FH expression was absent, 2SC was positive and Ki-67 positive index was 1%～3%.All cases were followed up and the patients survived without evidence of disease progression.Conclusion:The pathological morphology and immunophenotype of FH-DUL overlap with smooth muscle tumor of uncertain malignant potential(STUMP),and are easily confused with each other.Antler vessels, loose edema area, cytoplasmic eosinophilic globules are important histological features of this tumor, which play an important role in the diagnosis of FH-DUL.Immunohistochemical FH negative and 2SC positive are helpful for the diagnosis and differential diagnosis of this tumor.If necessary, FH gene detection should be performed to assist the diagnosis.更多还原