PDF(Pubmed)
Abstract：
UNASSIGNED: Cytogenetic analysis encompasses a suite of standard-of-care diagnostic testing methods that is routinely applied in cases of acute myeloid leukemia (AML) to assess chromosomal changes that are clinically relevant for risk classification and treatment decisions.
UNASSIGNED: In this study, we assess the use of Genomic Proximity Mapping (GPM) for cytogenomic analysis of AML diagnostic specimens for detection of cytogenetic risk variants included in the European Leukemia Network (ELN) risk stratification guidelines.
UNASSIGNED: Archival patient samples (N=48) from the Fred Hutchinson Cancer Center leukemia bank with historical clinical cytogenetic data were processed for GPM and analyzed with the CytoTerra® cloud-based analysis platform.
UNASSIGNED: GPM showed 100% concordance for all specific variants that have associated impacts on risk stratification as defined by ELN 2022 criteria, and a 72% concordance rate when considering all variants reported by the FH cytogenetic lab. GPM identified 39 additional variants, including variants of known clinical impact, not observed by cytogenetics.
UNASSIGNED: GPM is an effective solution for the evaluation of known AML-associated risk variants and a source for biomarker discovery.
UNASSIGNED: In this study, we assess the use of Genomic Proximity Mapping (GPM) for cytogenomic analysis of AML diagnostic specimens for detection of cytogenetic risk variants included in the European Leukemia Network (ELN) risk stratification guidelines.
UNASSIGNED: Archival patient samples (N=48) from the Fred Hutchinson Cancer Center leukemia bank with historical clinical cytogenetic data were processed for GPM and analyzed with the CytoTerra® cloud-based analysis platform.
UNASSIGNED: GPM showed 100% concordance for all specific variants that have associated impacts on risk stratification as defined by ELN 2022 criteria, and a 72% concordance rate when considering all variants reported by the FH cytogenetic lab. GPM identified 39 additional variants, including variants of known clinical impact, not observed by cytogenetics.
UNASSIGNED: GPM is an effective solution for the evaluation of known AML-associated risk variants and a source for biomarker discovery.
摘要：
细胞遗传学分析包括一套标准的诊断测试方法，这些方法通常应用于急性髓细胞性白血病（AML）病例，以评估与风险分类和治疗决策临床相关的染色体变化。
■在这项研究中，我们评估了使用基因组邻近图谱(GPM)对AML诊断标本进行细胞基因组分析,以检测欧洲白血病网络(ELN)风险分层指南中包含的细胞遗传学风险变异.
来自FredHutchinson癌症中心白血病库的具有历史临床细胞遗传学数据的存档患者样本(N=48)针对GPM进行处理,并用基于CytoTerra®云的分析平台进行分析。
■GPM对ELN2022标准定义的对风险分层有相关影响的所有特定变体显示100％一致，考虑到FH细胞遗传学实验室报告的所有变异，一致率为72％。GPM鉴定出39个额外的变体，包括已知临床影响的变体，没有被细胞遗传学观察到。
■GPM是评估已知AML相关风险变异的有效解决方案，也是发现生物标志物的来源。
■在这项研究中，我们评估了使用基因组邻近图谱(GPM)对AML诊断标本进行细胞基因组分析,以检测欧洲白血病网络(ELN)风险分层指南中包含的细胞遗传学风险变异.
来自FredHutchinson癌症中心白血病库的具有历史临床细胞遗传学数据的存档患者样本(N=48)针对GPM进行处理,并用基于CytoTerra®云的分析平台进行分析。
■GPM对ELN2022标准定义的对风险分层有相关影响的所有特定变体显示100％一致，考虑到FH细胞遗传学实验室报告的所有变异，一致率为72％。GPM鉴定出39个额外的变体，包括已知临床影响的变体，没有被细胞遗传学观察到。
■GPM是评估已知AML相关风险变异的有效解决方案，也是发现生物标志物的来源。
