并且是小儿患者化疗前胚胎型与肺泡型横纹肌肉瘤鉴别诊断的候选基因。
and are candidate genes for differential diagnosis between pre-chemotherapy embryonic and alveolar rhabdomyosarcoma in pediatric patients.
作者信息
Sun Nian, Yang Yeran, Wang Shengcai, Zhang Jie, Gui Jingang, Tai Jun, He Lejian, Xu Jiatong, Li Yanzhen, Zhang Xuexi, Liu Qiaoyin, Liu Zhiyong, Guo Yongli, Ni Xin
机构信息
Department of Otolaryngology, Head and Neck Surgery Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
出版信息
Pediatr Investig. 2021 Jun 18;5(2):106-111. doi: 10.1002/ped4.12278. eCollection 2021 Jun.
IMPORTANCE
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. More than 90% of cases are classified as embryonic RMS (ERMS) or alveolar RMS (ARMS). ERMS has a worse prognosis than ARMS. Early differential diagnosis is of paramount importance for optimization of treatment.
OBJECTIVE
To identify genes that are differentially expressed between ARMS and ERMS, which can be used for accurate rhabdomyosarcoma classification.
METHODS
Three Gene Expression Omnibus datasets composed of ARMS and ERMS samples were screened and 35 differentially expressed genes (DEGs) were identified. Receiver operating characteristic curve analysis and area under the curve analysis was performed for these 35 DEGs and seven candidate genes with the best differential expression scores between ARMS and ERMS were determined. The expression of these seven candidate genes was validated by immunohistochemical analysis of pre-chemotherapy ARMS and ERMS specimens.
RESULTS
The levels of DCX and CRABP2 were confirmed to be remarkably different between paraffin-embedded ARMS and ERMS tissues, while EGFR abundance was only marginally different between these two RMS subtypes.
INTERPRETATION
DCX and CRABP2 are potential biomarkers for distinguishing ARMS from ERMS in pre-chemotherapy pediatric patients.
重要性
横纹肌肉瘤（RMS）是儿童最常见的软组织肉瘤。超过90%的病例被归类为胚胎型横纹肌肉瘤（ERMS）或腺泡状横纹肌肉瘤（ARMS）。ERMS的预后比ARMS差。早期鉴别诊断对于优化治疗至关重要。
目的
鉴定在ARMS和ERMS之间差异表达的基因，可用于准确的横纹肌肉瘤分类。
方法
筛选了三个由ARMS和ERMS样本组成的基因表达综合数据集，鉴定出35个差异表达基因（DEG）。对这35个DEG进行了受试者工作特征曲线分析和曲线下面积分析，确定了ARMS和ERMS之间差异表达得分最佳的七个候选基因。通过对化疗前ARMS和ERMS标本进行免疫组化分析，验证了这七个候选基因的表达。
结果
在石蜡包埋的ARMS和ERMS组织之间，DCX和CRABP2的水平被证实有显著差异，而在这两种RMS亚型之间，EGFR丰度仅有微小差异。
解读
DCX和CRABP2是化疗前儿科患者区分ARMS和ERMS的潜在生物标志物。
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