摘要
目的分析单中心儿童肉瘤致病基因谱系特点与组织病理学特点的一致性。方法采用回顾性分析的方法,选取2017年1月至2023年1月于首都医科大学附属北京同仁医院儿科住院治疗,并对手术切除或活检标本进行二代测序检测的32例儿童肉瘤的临床资料进行统计学分析,总结分析相关致病基因谱系特点及其与组织病理学一致性。结果78.13%(25/32)检测出辅助诊断相关的基因异常。88.89%(16/18)横纹肌肉瘤明确存在融合基因及相关致病基因突变,主要基因型特点为:PAX-FOXO1基因重排。组织病理学诊断与基因型一致性分析结果为:腺泡型横纹肌肉瘤病理分型与分子病理分型一致率100.00%(4/4)。10例胚胎型横纹肌肉瘤中检测出PAX-FOXO1融合基因阳性3例,病理分型与分子病理分型不一致率为30.00%(3/10)。6例恶性横纹肌样瘤病理分型与分子病理分型一致率为50.00%(3/6)。结论儿童肉瘤组织病理学明确诊断率较高,其辅助诊断的基因异常检出比例高,必要时进行分子病理学检测,能为明确分子病理学分型提供依据。
Objective The aim of this study is to analyze the consistency between the pathogenic gene lineage characteristics and the histopathological features of single-center pediatric sarcoma.Methods This article adopts a retrospective analysis method.Statistical analysis was conducted on the clinical data of 32 pediatric sarcomas treated in the Pediatric Department of Beijing Tongren Hospital affiliated with Capital Medical University from January 2017 to January 2023,and second-generation sequencing was performed on surgical resection or biopsy specimens.The relevant pathogenic gene lineage characteristics and their consistency with histopathology were summarized and analyzed.Results There were 78.13%(25/32)of cases in which genetic abnormalities related to auxiliary diagnosis were detected.Meanwhile,88.89%(16/18)of rhabdomyosarcoma cases have clear mutations in fusion genes and related pathogenic genes,with the main genotype characteristic being PAX-FOXO1 gene rearrangement.The consistency analysis between histopathological diagnosis and genotype showed that the consistency rate between the pathological and molecular pathological classifications of alveolar rhabdomyosarcoma was 100.00%(4/4).Among 10 cases of embryonal rhabdomyosarcoma,3 cases were detected to be positive for PAX-FOX1 fusion gene,and the inconsistency rate between pathological classification and molecular pathological classification was 30.00%(3/10).The consistency rate between pathological classification and molecular pathological classification of 6 cases of malignant rhabdoid tumor was 50.00%(3/6).Conclusions The clear diagnosis rate of childhood sarcoma tissue pathology and the proportion of gene abnormalities detected as auxiliary diagnosis are high.If necessary,molecular pathological testing can provide a basis for clarifying molecular pathological subtypes.
作者
胡慧敏
张伟令
张谊
文圆
支天
李静
黄东生
Hu Huimin;Zhang Weiling;Zhang Yi;Wen Yuan;Zhi Tian;Li Jing;Huang Dongsheng(Department of Pediatrics,Beijing Tongren Hospital,Capital Medical University,Beijing 100176,China)
出处
《中国医学前沿杂志(电子版)》
北大核心
2025年第9期33-38,共6页
Chinese Journal of the Frontiers of Medical Science(Electronic Version)
