Barinfeld Orit, Zahavi Alon, Weiss Shirel, Toledano Helen, Michowiz Shalom, Goldenberg-Cohen Nitza
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
The Krieger Eye Research Laboratory, Bruce and Ruth Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Front Surg. 2022 Apr 28;9:880048. doi: 10.3389/fsurg.2022.880048. eCollection 2022.
To investigate pediatric low-grade gliomas for alterations in .
DNA and RNA were extracted from 62 pediatric gliomas. Molecular methods included PCR, RT-PCR, and RNA sequencing; Sanger sequencing was used for validation.
Analysis for hotspot genetic alterations in R132 and R172 (45 and 33 samples) was negative in all cases. deletions were detected in exons 1 and 2 in 1 (pleomorphic xanthoastrocytoma) sample of 9 samples analyzed. Of 10 samples analyzed for translocation, 4 each were positive for translocations with exon 2 and exon 3 of . Six samples showed rearrangement. The lack of genetic alterations is in accordance with the literature in pediatric tumors. Alterations in were recently reported to characterize diffuse grade II, but not grade I, gliomas.
We optimized methods for analyzing gene variations and correlated the findings to pathological grade. The high incidence of MYB and MYBL need further evaluation. We also compared DNA, RNA, and RNA sequencing results for fusion, translocation, and genetic alterations. More accurate identification of the underlying biology of pediatric gliomas has implications for the development of targeted treatment.
研究儿童低级别胶质瘤的[具体内容缺失]改变。
从62例儿童胶质瘤中提取DNA和RNA。分子方法包括聚合酶链反应（PCR）、逆转录聚合酶链反应（RT-PCR）和RNA测序；采用桑格测序进行验证。
对[具体基因名称缺失]132和[具体基因名称缺失]172（45和33个样本）的热点基因改变分析在所有病例中均为阴性。在分析的9个样本中的1个（多形性黄色星形细胞瘤）样本中检测到外显子1和2的[具体基因名称缺失]缺失。在分析的10个[具体基因名称缺失]易位样本中，4个分别与[具体基因名称缺失]外显子2和外显子3的易位呈阳性。6个样本显示[具体基因名称缺失]重排。[具体基因名称缺失]基因改变的缺乏与儿童肿瘤的文献一致。最近报道[具体基因名称缺失]改变可表征弥漫性二级而非一级胶质瘤。
我们优化了分析基因变异的方法，并将结果与病理分级相关联。MYB和MYBL的高发生率需要进一步评估。我们还比较了DNA、RNA和RNA测序结果的融合、易位和基因改变情况。更准确地识别儿童胶质瘤的潜在生物学特性对靶向治疗的发展具有重要意义。
