相关实验视频

Updated: Jun 12, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

儿科慢性髓性白血病中高比例的生殖系变异

Manuela Krumbholz^1,2,3, Anna Dolnik⁴, Eric Sträng⁴

¹Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Loschgestrasse 15, 91054, Erlangen, Germany.

Molecular cancer

|September 26, 2024

概括

儿童慢性髓性白血病 (CML) 是罕见的. 在患有CML的儿童中,造血基因的生殖系变异很常见,在与BCR::ABL1融合基因结合时,可能会增加白血病风险.

科学领域:

血液学血液学血液学
遗传学遗传学是一个
在瘤学瘤学.

背景情况:

慢性髓性白血病 (CML) 通常在成年人中被诊断出来.
儿科CML是一种罕见的血液性恶性瘤.
BCR::ABL1融合基因是所有CML病例的主要驱动因素,但其他基因组事件也与白血病发生有关,特别是在儿科CML中.

研究的目的:

为了调查儿科CML的突变格局.
确定与年龄相关的生殖系和体质变异,有助于早期发病的白血病.
探索在儿科CML发育中诱导生殖系变异的作用.

主要方法:

采用了整体外因子测序和向测序.
分析了儿童和成人CML患者的样本.
除了BCR::ABL1转位,还确定了生殖系和体质变异.

主要成果:

在大约60%的儿科CML患者中发现了生殖系变异,经常影响血液生成基因 (ASXL1,NOTCH1,KDM6B,TET2).
成年CML患者中,生殖系变异的发生频率明显较低.
确定的致病性生殖系变异,被认为是致癌的诱因,发生在约10%的儿科CML病例中.

结论:

与克隆性血液形成相关的基因中的生殖系变异可能会使儿童易患CML.
生殖系变异和BCR::ABL1瘤基因之间的相互作用可能会促进儿科患者早期白血病的发展.
这些发现凸显了遗传遗传因素在儿科CML病变发生过程中的潜在作用.

关键词:

癌症倾向性癌症倾向性慢性骨髓性白血病慢性骨髓性白血病生殖系变体的生殖系变体儿科的CML患者

更多相关视频

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

相关概念视频

Mutations

Mutations

Histone Variants at the Centromere

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...