PDF(Pubmed)
Abstract：
UNASSIGNED: Next generation sequencing (NGS) has increased the detection of fusion genes in cancer. NGS has found multiple fusions in single tumor samples; however, the incidence of this in pediatric soft tissue and bone tumors (PSTBTs) is not well documented. The aim of this study is to catalogue the incidence of multiple fusions in a series of PSTBTs, and apply a modified gene fusion classification system to determine clinical relevance.
UNASSIGNED: RNA from 78 bone and soft tissue tumors and 7 external quality assessment samples were sequenced and analyzed using recently-described Metafusion (MF) software and classified using a modification of previously-published schema for fusion classification into 3 tiers: 1, strong clinical significance; 2, potential clinical significance; and 3, unknown clinical significance.
UNASSIGNED: One-hundred forty-five fusions were detected in 85 samples. Fifty-five samples (65%) had a single fusion and 30 (35%) had more than 1 fusion. No samples contained more than 1 tier 1 fusion. There were 40 tier 1 (28%), 36 tier 2 (24%), and 69 (48%) tier 3 fusions.
UNASSIGNED: A significant percentage of PSTBTs harbor more than 1 fusion, and by applying a modified fusion classification scheme, the potential clinical relevance of such fusions can be determined.
UNASSIGNED: RNA from 78 bone and soft tissue tumors and 7 external quality assessment samples were sequenced and analyzed using recently-described Metafusion (MF) software and classified using a modification of previously-published schema for fusion classification into 3 tiers: 1, strong clinical significance; 2, potential clinical significance; and 3, unknown clinical significance.
UNASSIGNED: One-hundred forty-five fusions were detected in 85 samples. Fifty-five samples (65%) had a single fusion and 30 (35%) had more than 1 fusion. No samples contained more than 1 tier 1 fusion. There were 40 tier 1 (28%), 36 tier 2 (24%), and 69 (48%) tier 3 fusions.
UNASSIGNED: A significant percentage of PSTBTs harbor more than 1 fusion, and by applying a modified fusion classification scheme, the potential clinical relevance of such fusions can be determined.
摘要：
■下一代测序（NGS）增加了对癌症中融合基因的检测。NGS在单个肿瘤样本中发现了多种融合；然而，这种情况在小儿软组织和骨肿瘤(PSTBTs)中的发生率尚不明确.这项研究的目的是对一系列PSTBT中多次融合的发生率进行分类，并应用改进的基因融合分类系统来确定临床相关性。
■使用最近描述的Metafusion（MF）软件对来自78个骨和软组织肿瘤和7个外部质量评估样本的RNA进行测序和分析，并使用先前发表的融合分类方案的修改分为3层：1，具有很强的临床意义；2，潜在的临床意义；和3，未知的临床意义。
■在85个样品中检测到一百四十五个融合。55个样品(65%)具有单个融合,30个样品(35%)具有多于1个融合。没有样品包含超过1层1融合。有40个一级(28%)，36个二级（24%），和69（48%）三级融合。
■相当比例的PSTBT含有1个以上的聚变，并通过应用改进的融合分类方案，可以确定此类融合的潜在临床相关性。
■使用最近描述的Metafusion（MF）软件对来自78个骨和软组织肿瘤和7个外部质量评估样本的RNA进行测序和分析，并使用先前发表的融合分类方案的修改分为3层：1，具有很强的临床意义；2，潜在的临床意义；和3，未知的临床意义。
■在85个样品中检测到一百四十五个融合。55个样品(65%)具有单个融合,30个样品(35%)具有多于1个融合。没有样品包含超过1层1融合。有40个一级(28%)，36个二级（24%），和69（48%）三级融合。
■相当比例的PSTBT含有1个以上的聚变，并通过应用改进的融合分类方案，可以确定此类融合的潜在临床相关性。
