31例延胡索酸水合酶缺陷型子宫平滑肌肿瘤临床病理学特征分析  

Fumarate hydratase-deficient uterine smooth muscle tumors:a clinicopathological analysis of 31 cases

作　　者：张雯 张海雁 胡娜 ZHANG Wen;ZHANG Hai-yan;HU Na(Department of Pathology,Northwest Women and Children’s Hospital,Xi’an 710000,China)

机构地区：[1]西北妇女儿童医院病理科,西安710000

出　　处：《诊断病理学杂志》2023年第7期657-660,664,共5页Chinese Journal of Diagnostic Pathology

基　　金：西北妇女儿童医院院内项目(2022YN16);陕西省科技厅一般项目——青年项目(2023-JC-QN-0887)。

摘　　要：目的探讨延胡索酸水合酶缺陷型子宫平滑肌肿瘤(FH-DSMTs)的临床病理学特征。方法分析31例FH-DSMTs的临床特点、病理组织学特征及免疫表型,并复习相关文献。结果31例FH-DSMTs患者年龄22~51岁,平均35.5岁;患多发性肌瘤占比为55.6%(15/27);肿瘤最大径范围0.3~19 cm,平均5.5 cm;复发病例占比为12%(3/25);孕晚期发生率为11.1%(3/27)。组织学形态特点显示:具有奇异型细胞比例25/31(80.6%),胞浆内嗜酸性包涵体占比为29/31(93.5%),嗜酸性核仁伴周围空晕占比为31/31(100%),肺泡水肿样改变占比为12/31(38.7%),鹿角样血管占比为10/31(32.3%),链状排列占比为11/31(35.5%),富于细胞型占比为21/31(67.7%)。2例出现坏死,其中1例具有显著的细胞异型性且核分裂象>10个/10 HPF,符合平滑肌肉瘤诊断标准。免疫表型:31例FH均完全缺失,2-琥珀酸-半胱氨酸(2SC)均弥漫阳性,Ki-67增殖指数1%~15%,平均5.3%,1例结合分子检测结果提示平滑肌肉瘤。结论FH-DSMTs是子宫平滑肌肿瘤的特殊亚型,在既往病例中相当一部分可能被错误地归类为非典型、富于细胞型、恶性潜能未定的、具有奇异型核的平滑肌瘤等,因此结合其特征性组织形态特点及好发于年轻患者(<51岁)、复发病例等临床特征提示病理医生应行FH及2SC免疫组化标记对FHDSMTs进行协助诊断,有助于临床对遗传性平滑肌瘤病和肾细胞癌综合征的筛查,必要时行FH基因检测。Objective To investigate the clinicopathological features of fumarate hydratase-deficient uterine smooth muscle tumours(FH-DSMTs).Methods The clinical features,histopathological features and immunophenotype of 31 cases of FH-DSMTs were retrospectively analyzed,and the relevant literature was reviewed.Results The age of the patients ranged from 22 to 51 years(mean 35.5 years).The proportion of multiple uterine smooth muscle tumours was 55.6%(15/27).The maximum diameter of the tumor ranged from 0.3 to 19 cm,with an average of 5.5 cm.Recurrent cases accounted for 12%(3/25).The incidence in the third trimester was 11.1%(3/27).Histologic features showed there were 25 cases(80.6%)of bizarre cells,29 cases(93.5%)of eosinophilic inclusions in cytoplasm,31 cases(100%)of eosinophilic nucleoli with perinucleolar halos,12 cases(38.7%)of alveolar edema,and 10 cases(32.3%)of staghorn vessels.The proportion of chain arrangement was 11/31(35.5%),and the proportion of cellular leiomyoma was 21/31(67.7%).Necrosis was observed in 2 cases,and one of them had significant cellular atypia and mitotic figures were>10/10 HPFs,which met the diagnostic criteria for leiomyosarcoma.Immunohistochemically,31 cases showed complete absence of FH and diffusely positive 2-succino-cysteine(2SC).The Ki-67 proliferation index ranged from 1%to 15%(mean value 5.3%).One case was diagnosed as leiomyosarcoma combined with molecular detection.Conclusion FH-DSMTs is a special subtype of uterine smooth muscle tumors,and a considerable proportion of previous cases may be misclassified as atypical,cellular,indeterminate malignant potential,and bizarre nuclear leiomyomas.It is suggested that pathologists should perform FH and 2SC immunohistochemical staining for the diagnosis of DSMTs combined with its characteristic histology,and clinical features as young patients(<51 years old)and recurrent cases.It is helpful for clinical screening of hereditary leiomyomatosis and renal cell carcinoma(HLRCC)syndrome,and FH gene tests should be performed when it is necessary

关 键 词：延胡索酸水合酶 子宫平滑肌瘤 子宫平滑肌肉瘤 FH缺陷型子宫平滑肌肿瘤 FH缺陷型子宫平滑肌瘤 

分 类 号：R737.33[医药卫生—肿瘤]