摘要
目的探讨延胡索酸水合酶(fumarate hydratase,FH)缺陷型子宫平滑肌瘤(fumarate hydratase-deficiency in uterine leiomyomas,FH-DUL)的临床病理学特征。方法回顾性分析29例FH-DUL的临床病理学特征及免疫表型等,并复习相关文献。结果患者年龄27~52岁,平均43岁。镜检:肿瘤有两种类型,经典型占62.1%(18/29),可见数量不等的核大深染细胞和局灶或多灶的奇异型细胞,有嗜酸性核仁及核周空晕;类似“普通型平滑肌瘤(usual leiomyomas,UL)”样型占37.9%(11/29),细胞轻度异型性,无明显嗜酸性大核仁。免疫表型:28例FH完全缺失,1例FH和29例2-琥珀酸-半胱氨酸(2-succino-cysteine,2SC)均弥漫阳性。1例行分子遗传学检测,未检测到FH基因胚系突变。29例均行手术切除,术后均无瘤生存。结论FH-DUL属于子宫平滑肌瘤的罕见亚型,诊断依赖于临床影像学、病理形态学及免疫表型,必要时行FH基因检测辅助诊断,需与UL及其它子宫间叶源性肿瘤鉴别,治疗以手术切除为主,预后较好。
Purpose To investigate the clinical and pathological features of fumarate hydratase(FH)deficiency in uterineleiomyomas(FH-DUL).Methods Twenty-nine cases of FH-DUL were collected.The clinical and pathological features and immunophenotype were retrospectively analogized with review of the literature.Results The ages ranged from 27 to 52 years(average 43 years).Microscopically,there were two types:classic type(18/29,62.1%)and usual type(11/29,37.9%).There were numbers of large nuclear stained cells and focal or multi-focal bizarre cells with eosinophilic nucleoli and pernucleolar haloes In the classic type.The usual type was similar to“usual leiomyomas(UL)”,with mild atypia,while there was no eosinophilic nucleoli.Immunohistochemically,28 cases were negative for FH,except one positive.The 29 cases were positive for 2-succino-cysteine(2SC).1 case underwent molecular genetic testing,and no germline mutations in the FH gene was detected.All were alive without disease after surgical resection.Conclusion FH-DUL is a rare type of uterine leiomyomas.Its diagnosis depends on clinical imaging,histopathology and immunophenotype.The FH gene detection is necessary to assist the diagnosis.Clinicopathologically,it needs to be differentiated from UL and other uterine mesenchymal tumors.Completely surgical resection is the main treatment.The follow-up is required after surgery.The prognosis is good.
作者
许倩雯
黄海建
李柏成
孙鹏远
俞训彬
陈新
陈小岩
郑松龄
XU Qian-wen;HUANG Hai-jian;LI Bai-cheng;SUN Peng-yuan;YU Xun-bin;CHEN Xin;CHEN Xiao-yan;ZHENG Song-ling(Department of Pathology,Fuding Hospital,Fuding 355200,China;Department of Pathology,Fujian Provincial Hospital,Fujian Provincial Clinical Medical College,Fujian Medical University,Fuzhou 350001,China;Department of Pathology,Binzhou People’s Hospital of Shandong Province,Binzhou 256610,China;Department of Surgery,Binzhou Boxing County Hubin Central Health Center of Shandong Province,Binzhou 256512,China;Department of Pathology,Taijiang Hospital of Fuzhou,Fuzhou 350001,China)
出处
《临床与实验病理学杂志》
CAS
CSCD
北大核心
2022年第3期299-303,共5页
Chinese Journal of Clinical and Experimental Pathology
关键词
子宫肿瘤
子宫间叶源性肿瘤
平滑肌肿瘤
FH缺陷型子宫平滑肌瘤
免疫组织化学
uterine neoplasm
mesenchymal tumor of uterus
smooth muscle tumors
fumarate hydratase-deficiency in uterine leiomyoma
immunohistochemistry
