在患有基本血小板血病的患者中检测多个驱动突变
Shivani Sharma1, Manasa Morisetti2, Nitesh Gandhi1
1Department of Internal Medicine, Louisiana State University Health Shreveport, Shreveport, LA, USA.
The American journal of case reports
|February 4, 2024
概括
基本血小板血的诊断需要对JAK2,CALR和MPL突变进行测试. 一个病例显示了低JAK2变体等位基因频率,需要进一步的突变分析来准确诊断和治疗.
科学领域:
- 血液学 血液学 血液学
- 分子生物学分子生物学
- 在瘤学瘤学.
背景情况:
- 基本血小板血 (ET) 具有三个主要驱动突变的特征:JAK2 V617F,CALR和MPL.
- 其中JAK2 V617F突变是最常见的,它们通常被认为是相互排斥的.
- 最初的诊断工作可能并不总是识别所有潜在的驱动器突变,因为他们的个人测试方法.
研究的目的:
- 为了呈现一种与同时发生的JAK2和CALR突变的基本血小板血症病例.
- 突出ET诊断中综合突变查的重要性.
- 强调CALR作为决定疾病表型的主导突变的作用.
主要方法:
- 一个55岁的女性患有无症状血栓细胞瘤的病例报告.
- 最初的JAK2 V617F突变测试通过异位基因特异性聚合酶链反应 (AS-PCR).
- 骨髓活检与随后的下一代测序 (NGS) 进行全面的突变分析.
主要成果:
- AS-PCR检测到一个JAK2 V617F突变,具有低变异异基因频率 (2%).
- NGS发现了具有更高变异异基因频率 (7%) 的CALR外形9删除突变,并且由于敏感性限制,没有检测到JAK2突变.
- 该患者接受了阿司匹林治疗,并且在两年内保持无事件状态.
结论:
- 在具有低JAK2 V617F变异基因频率的ET患者中,建议对其他驱动突变 (如CALR) 进行测试.
- 该JAK2突变可能代表不确定潜力的克隆血液形成 (CHIP).
- 在这种情况下,CALR突变是主要的驱动因素,决定了疾病表型.
更多相关视频
相关概念视频
01:39Mutations
Overview
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...