横纹肌肉瘤及其亚型中FOXO1、Olig-2、ALK的表达与诊断意义OA
Expression and diagnostic significance of FOXO1,Olig-2 and ALK in rhabdomyo-sarcoma and its subtypes
目的 探讨FOXO1、Olig-2以及ALK在横纹肌肉瘤(rhabdomyosarcoma,RMS)及其亚型中的表达及诊断价值.方法 回顾性分析27例RMS与60例相关肿瘤(30例非RMS小圆细胞肿瘤、30例其他软组织肿瘤)的临床病理资料,采用免疫组化法检测FOXO1、Olig-2、ALK、MyoD1、Myogenin和desmin的表达,应用ROC曲线分析Olig-2、MyoD1和Myogenin在RMS诊断以及腺泡状横纹肌肉瘤(alveolar rhabdomyosarcoma,ARMS)与胚胎型横纹肌肉瘤(embryonal rhabdomyosarcoma,ERMS)鉴别中的诊断效能.结果 ARMS中FOXO1、Olig-2阳性率均显著高于ERMS(P<0.05),ALK在两亚型间差异无统计学意义,在非ARMS/ERMS亚型均阴性.对照组中FOXO1和Olig-2偶见阳性,ALK均阴性.ROC分析显示,Olig-2在鉴别ARMS与ERMS中的AUC为0.88,诊断效能明显优于MyoD1和Myogenin(AUC分别为0.60和0.58),三者联合应用时AUC可达0.97.在区分RMS与非RMS肿瘤时,MyoD1和Myogenin的AUC均在0.82以上,而Olig-2表现为特异度高、敏感度低.结论 FOXO1是筛查ARMS的敏感标志物,但特异性有限;ALK对提示RMS诊断有参考价值.ARMS中Olig-2强阳性,是ARMS/ERMS鉴别的有用标志;联合MyoD1和Myogenin免疫组化染色,有望优化RMS的亚型分层并减少部分FISH检测需求.
Objective To investigate the expression patterns and diagnostic value of FOXO1,Olig-2 and ALK in rhabdomyosarcoma(RMS)and its subtypes.Methods Clinicopathological data of 27 cases with RMS and 60 cases with related tumors(30 non-RMS small round cell tumors and 30 other soft-tissue tumors)were retrospectively ana-lyzed.Immunohistochemistry was performed to detect the immunoreactivity of FOXO1,Olig-2,ALK,MyoD1,Myo-genin and desmin.ROC curve analysis was adopted to evaluate the diagnostic performance of Olig-2,MyoD1,and Myogenin for the diagnosis of RMS and the differentiation between alveolar rhabdomyosarcoma(ARMS)and embryo-nal rhabdomyosarcoma(ERMS).Results The positive rates of FOXO1 and Olig-2 in ARMS were significantly higher than those in ERMS(P<0.05),while ALK expression showed no significant difference between the two subtypes.All three markers were negative in non-ARMS/non-ERMS subtypes.Focal positivity of FOXO1 and Olig-2 was occa-sionally seen in control groups,while ALK staining was entirely negative.ROC analysis revealed that the AUC of Olig-2 for differentiating ARMS from ERMS was 0.88,which was markedly superior to that of MyoD1 and Myogenin(AUC values were 0.60 and 0.58,respectively).The combined detection of the three markers achieved an AUC of 0.97.When differentiating RMS from non-RMS tumors,both MyoD1 and Myogenin had AUC values greater than 0.82,whereas Olig-2 exhibited high specificity and low sensitivity.Conclusion FOXO1 is a sensitive marker for screening ARMS,yet its diagnostic specificity is limited.ALK staining may provide auxiliary reference evidence for supporting the diagnosis of RMS.Olig-2 is highly expressed in ARMS and serves as a useful marker for distinguishing ARMS from ERMS.Combined immunohistochemical staining of Olig-2,MyoD1,and Myogenin is expected to optimize subtype stratification of RMS and reduce the demand for FISH detection.
刘晓静;王璇;李学广;夏秋媛;王小桐;汪小霞;方茹;饶秋
南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002南京大学医学院附属金陵医院/解放军东部战区总医院病理科,南京 210002
医药卫生
横纹肌肉瘤FOXO1Olig-2ALK免疫组织化学
rhabdomyosarcomaFOXO1Olig-2ALKimmunohistochemistry
《临床与实验病理学杂志》 2026 (7)
881-887,7
国家自然科学基金(82273327)、江苏省自然科学基金青年项目(BK20230193)、江苏省卫健委面上项目(M2021052) Project Supported by the National Natural Science Foundation of China(82273327)the Science Foundation for Distinguished Young Scholars of Jiangsu(BK20230193)Jiangsu Provincial Health Commission Gen-eral Project(M2021052)
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