子宫多发性平滑肌瘤中延胡索酸水合酶的表达研究  

Expression of fumarate hydratase in multiple leiomyoma of the uterus

作　　者：魏晓霞[1] 李雷[1] 刘天明 王梅[1] 于娜[1] 黄芹[1] 刘千琪 陈铌[2] WEI Xiaoxia;LI Lei;LIU Tianming;WANG Mei;YU Na;HUANG Qin;LIU Qianqi;CHEN Ni(Department of Pathology,West China Second University Hospital,Sichuan University/Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,Chengdu,Sichuan 610041,P.R.China;Department of Pathology,West China Hospital,Sichuan University Chengdu,Sichuan 610041,P.R.China)

机构地区：[1]四川大学华西第二医院病理科/出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]四川大学华西医院病理科,成都610041

出　　处：《华西医学》2022年第8期1197-1202,共6页West China Medical Journal

基　　金：国家自然科学基金(81872107);四川省科学技术厅科技计划项目(2021YFS0114)。

摘　　要：目的探讨子宫多发性平滑肌瘤中延胡索酸水合酶(fumarate hydratase,FH)的表达及临床病理学特点。方法收集四川大学华西第二医院病理科2018年9月1日—2019年8月31日病理诊断为子宫多发性平滑肌瘤患者的临床病理资料。观察其形态学、FH表达以及FH阴性患者预后。结果共纳入患者900例。其中,普通型平滑肌瘤825例,伴奇异核的平滑肌瘤36例,富于细胞型平滑肌瘤34例,核分裂活跃的平滑肌瘤5例。FH表达阴性69例,平均年龄(37.28±8.22)岁;其中,普通型平滑肌瘤43例,伴奇异核的平滑肌瘤19例,富于细胞型平滑肌瘤6例,核分裂活跃的平滑肌瘤1例。在低倍镜下,FH表达阴性患者可见鹿角样薄壁血管、肺泡样水肿、平滑肌细胞栅栏状分布及核怪异的平滑肌细胞;在高倍镜下,FH表达阴性患者可见胞浆嗜酸性小体和环绕空晕的嗜酸性核仁。在69例FH表达阴性患者中,获得随访60例(86.96%,60/69),患者均存活,其中24例(40%,24/60)复发。结论子宫多发性平滑肌瘤进行免疫组化FH筛查有助于在临床工作中提升对FH缺失型平滑肌瘤的识别,以及对遗传性平滑肌瘤肾细胞癌综合征患者的早期识别。Objective To investigate the expression and clinicopathological features of fumarate hydratase(FH in multiple leiomyoma of the uterus.Methods Relevant clinicopathological data of patients with multiple leiomyoma of the uterus diagnosed pathologically between September 1,2018 and August 31,2019 were collected from the Department of Pathology of West China Second University Hospital.The morphology,FH protein expression and prognosis of FH negative patients were observed.Results A total of 900 patients were included.Among them,there were 825 cases of nonatypical leiomyomas,36 cases of leiomyoma with bizarre nuclei,34 cases of cellular leiomyoma and 5 cases of mitotically active leiomyoma.A total of 69 patients with negative FH expression were included,with an average age of(37.28±8.22)years.Among them,there were 43 cases of nonatypical leiomyomas,19 cases of leiomyoma with bizarre nuclei,6 cases of cellular leiomyoma,and 1 cases of mitotically active leiomyoma.At low magnification,staghorn shaped blood vessels,alveolar pattern edema,palisade distribution of smooth muscle cells and bizarre nuclei smooth muscle cells could be seen in patients with negative FH expression.At high magnification,cytoplasmic eosinophilicglobules andeosinophilic nucleolus surrounded by a halo could be seen in patients with negative FH expression.Among the 69cases with negative FH expression,60 cases(86.96%,60/69)were followed up.All patients survived,of which 24 cases(40%,24/60)recurred.Conclusion Immunohistochemically,the marker FH for multiple leiomyoma of the uterus is helpful to improve the identification of FH deficient leiomyoma in clinical work as well as early diagnosis in hereditary leiomyomatosis renal cell cancer syndrome.

关 键 词：平滑肌瘤 延胡索酸水合酶 奇异核 遗传性平滑肌瘤肾细胞癌综合征 

分 类 号：R737.33[医药卫生—肿瘤]