针对儿童癌症的循环瘤DNA的基因组分析
Shaohua Lei1,2, Sujuan Jia3, Sunitha Takalkar3
1Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Leukemia
|November 10, 2024
概括
Pecan-Seq检测了儿童癌症,特别是白血病中循环瘤DNA (ctDNA). 这种深度测序方法从血中识别出各种基因组变异,帮助诊断和监测.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子诊断学 分子诊断学
背景情况:
- 在儿科癌症,特别是白血病中,循环瘤DNA (ctDNA) 的实用性尚不清楚.
- 无细胞DNA的深度测序为癌症分析提供了一种非侵入性的方法.
研究的目的:
- 开发和验证PeCan-Seq,一种深度测序方法,用于使用血ctDNA检测儿童癌症的体基因组变异.
- 评估ctDNA分析在儿科血液和固体瘤的疾病检测和监测方面的敏感性和实用性.
主要方法:
- 开发了PeCan-Seq,这是一个深度测序试验,针对各种体质基因组变异.
- 在诊断时从233名患有血液,固体和脑瘤的儿童收集了血样本.
- 在B细胞急性淋巴细胞白血病 (B-ALL) 患者中,相关的ctDNA变异具有最小残留疾病 (MRD) 水平.
主要成果:
- 在所有177名患有血液性恶性瘤的儿童中都发现了可检测的ctDNA (中位数ctDNA分数为0.77%).
- Pecan-Seq确定了97%的预期瘤变异,包括突变,副本数和结构变异.
- 在19/38例固体瘤患者和1/18例脑瘤患者中检测到ctDNA;在B-ALL中,ctDNA与MRD相关.
结论:
- Pecan-Seq从最小的血体积灵敏地检测到儿童血液恶性瘤和一些固体瘤中的异质ctDNA变异.
- 这种方法提供了一个强大的,非侵入性的方法,用于诊断时的全面基因组分析和治疗期间的突变特异性监测.
相关概念视频
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...