延胡索酸水合酶与2琥珀酸半胱氨酸在初筛延胡索酸水合酶缺陷型子宫平滑肌瘤的应用价值  

Application value of fumarate hydratase and 2-succinocysteine in primary screening of fumarate hydratase-deficient uterine leiomyoma

作　　者：方甜甜 施凤[1] 钱宁[1] 张维菊 顾芸[1] FANG Tiantian;SHI Feng;QIAN Ning;ZHANG Weiju;GU Yun(Department of Pathology,Women’s Hospital of Nanjing Medical University,Nanjing Women and Children’s Healthcare Hospital,Nanjing 210004,China)

机构地区：[1]南京医科大学附属妇产医院(南京市妇幼保健院)病理科,南京210004

出　　处：《临床与实验病理学杂志》2024年第3期251-254,共4页Chinese Journal of Clinical and Experimental Pathology

基　　金：国家自然科学基金(81802105);江苏省重点研发计划(社会发展)(BE2017619)。

摘　　要：目的探讨延胡索酸水合酶(fumarate hydratase,FH)和2琥珀酸半胱氨酸(2-succinocysteine,2SC)在具有奇异核特征平滑肌瘤中的表达,分析2种蛋白在初筛延胡索酸水合酶缺陷型(fumarate hydratase-deficient,FH-d)平滑肌瘤中的诊断价值。方法收集67例具有奇异核特征平滑肌瘤的临床资料,采用免疫组化EnVision两步法染色,分析FH、2SC表达与FH-d型平滑肌瘤形态学特征的相关性,并复习相关文献。结果67例患者有27例为FH-d型平滑肌瘤,FH在FH-d型平滑肌瘤中的阳性率为(2/27,7.41%),低于无FH-d形态平滑肌瘤(31/40,77.50%);2SC在FH-d型平滑肌瘤中的阳性率为(26/27,96.30%),高于无FH-d形态平滑肌瘤(11/40,27.50%)。统计学显示FH和2SC的表达存在相关性(P<0.05),且FH、2SC阳性与显著嗜酸性核仁、核仁周围空晕、嗜酸性包涵体和鹿角形血管均有关(P<0.05)。FH免疫组化染色显示FH-d型平滑肌瘤的敏感度为92.59%,特异度77.50%。2SC免疫组化染色显示FH-d型平滑肌瘤的敏感度为96.30%,特异度为72.50%。结论多数FH-d形态的平滑肌瘤中FH阴性和2SC阳性,对两者行联合检测可显著提高FH-d型平滑肌瘤的诊断准确性。Purpose To investigate the expression of fumarate hydratase(FH)and 2-succinocysteine(2SC)in leiomyoma with singular nuclear features,and to analyze the diagnostic value of these two proteins in fumarase hydratase-deficient(FH-d)uterine leiomyomas.Methods Sixty-seven cases of leiomyoma with singular nuclear features were collected.The expression was detected by immunohistochemical EnVision method,and the relationship between the expression of FH,2SC and the morphological characteristics of FH-d uterine leiomyomas was analyzed,and the relevant literature was reviewed.Results There were 67 patients of leiomyoma with singular nuclear features,among which 27 had FH-d leiomyoma.The positive rate of FH was(2/27,7.41%),significantly lower than that of leiomyomas without FH-d(31/40,77.50%).The positive rate of 2SC(26/27,96.30%)was significantly higher than that of leiomyomas without FH-d(11/40,27.50%).The statistical results showed that there was a correlation between the expression of FH and 2SC(P<0.05);positive expression of FH and 2SC was associated with significant eosinophilic nucleoli,perinucleolar vacuoles,eosinophilic inclusions and antler vessels(P<0.05).The sensitivity and specificity of FH immunohistochemical identification of FH defective leiomyoma were 92.59%and 77.50%,respectively.The sensitivity and specificity of 2SC immunohistochemical were 96.30%and 72.50%for FH defective leiomyomas,respectively.Conclusion In most leiomyomas with FH-d morphology,FH expression is negative and 2SC expression is positive.The combined detection of FH and 2SC can significantly improve the diagnosis of FH defective leiomyoma.

关 键 词：FH缺陷型平滑肌瘤 奇异核平滑肌瘤 延胡索酸水合酶 2琥珀酸半胱氨酸 

分 类 号：R737.33[医药卫生—肿瘤]