中国医学前沿杂志（电子版）2025，Vol.17Issue(9)：33-38,6.DOI:10.12037/YXQY.2025.09-06
单中心儿童肉瘤的致病基因谱系特点与组织病理学特点一致性分析
The consistency analysis between the pathogenic gene and histopathological characteristics of pediatric sarcoma in a single center
胡慧敏 1张伟令 1张谊 1文圆 1支天 1李静 1黄东生1
作者信息
- 1. 首都医科大学附属北京同仁医院儿科,北京 100176
- 折叠
摘要
Abstract
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.关键词
儿童/肉瘤/基因/组织病理学Key words
Child/Sarcoma/Gene/Histopathology引用本文复制引用
胡慧敏,张伟令,张谊,文圆,支天,李静,黄东生..单中心儿童肉瘤的致病基因谱系特点与组织病理学特点一致性分析[J].中国医学前沿杂志（电子版）,2025,17(9):33-38,6.
