延胡索酸水合酶缺陷型平滑肌瘤的研究进展  

Research progress on fumarate hydratase-deficient unterine leiomyoma

作　　者：王晴 郑晶莹[1] 丁连英 赵韦欣 王梦齐 赵淑华[1] Wang Qing;Zheng Jingying;Ding Lianying;Zhao Weixin;Wang Mengqi;Zhao Shuhua(Department of Gynaecology and Obstetrics,the Second Hospital of Jilin University,Changchun 130000,China)

机构地区：[1]吉林大学第二医院妇产科,长春130000

出　　处：《新医学》2022年第1期10-13,共4页Journal of New Medicine

摘　　要：延胡索酸水合酶(FH)缺陷型平滑肌瘤是子宫平滑肌瘤的一种罕见病理类型,它是FH基因胚系或体系突变引起,且以后者居多。该病虽较为罕见,但当它作为遗传性平滑肌瘤病和肾细胞癌(HLRCC)综合征的前哨表现时,严重的症状体征导致的早期手术以及术后病理为HLRCC综合征提供了早期诊断的可能。FH缺陷型平滑肌瘤的诊断以系统化的诊断方法为主,形态学和免疫组织化学染色有助于提高检出率,但价值有限。虽然FH缺陷型平滑肌瘤的生物学潜能低,但突变来源不同导致患者治疗和预后也大不相同。因此对于临床医师而言,散发性和遗传性FH缺陷型子宫肌瘤的鉴别是一个巨大挑战。该文就FH缺陷型子宫平滑肌瘤的临床表现、形态学特征、诊断与鉴别诊断、治疗及预后做一综述。Fumarate hydratase(FH)-deficient uterine leiomyoma is a rare pathological type of uterine leiomyoma,which is caused by FH gene germ-line or system mutations,primarily the latter cause.Although this disease is rare,when it is a sentinel manifestation of hereditary leiomyomatosis and renal cell carcinoma(HLRCC)syndromes,its severe symptoms and signs lead to early surgery and post-operative pathology that offers the possibility of early diagnosis of the aggressive consequences of this hereditary disease.Systematic diagnosis is the main diagnostic methods.Morphological and immunohistochemical staining are helpful to improve the detection rate,whereas their values are limited.Although the biological potential of FH-deficient uterine leiomyoma is low,the treatment and prognosis of patients significantly vary due to different sources of mutations.Therefore,how to distinguish sporadic and hereditary uterine fibroids is a great challenge for clinicians.In this article,clinical manifestations,morphological features,diagnosis and differential diagnosis,treatment and prognosis of FH-deficient uterine leiomyoma were reviewed.

关 键 词：子宫平滑肌瘤 延胡索酸水合酶 遗传性平滑肌瘤病和肾细胞癌 基因突变 鉴别诊断 

分 类 号：R737.33[医药卫生—肿瘤]