在胃肠胰腺神经内分泌瘤中瘤突变负担
Sun Young Jeong1,2, Young Suk Park1, Jeeyun Lee1
1Division of Hematology/Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Journal of gastrointestinal oncology
|September 18, 2023
概括
微卫星不稳定性 (MSI) 和瘤突变负担 (TMB) 是罕见神经内分泌瘤 (NEN) 的新兴生物标志物. 这项研究发现,虽然大多数胃肠胰腺 (GEP) -NENs具有低TMB,但一些罕见的病例表现出高TMB,这表明精准医学的潜力.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 生物标志物发现发现
背景情况:
- 神经内分泌瘤 (NENs) 是一种罕见的瘤,治疗选择有限.
- 微卫星不稳定性 (MSI) 和瘤突变负担 (TMB) 越来越多地被认为是各种癌症的预测生物标志物.
- 在胃肠胰腺 (GEP) -NEN中对MSI和TMB的研究很少.
研究的目的:
- 研究MSI和TMB作为GEP-NEN中的潜在生物标志物的实用性.
- 分析MSI和TMB在GEP-NEN患者队列中的患病率.
- 探索TMB与GEP-NENs临床病理特征的相关性.
主要方法:
- 在2013年至2022年期间诊断的31名GEP-NEN患者的分析.
- 下一代测序 (NGS) 使用Illumina TruSightTM瘤500测定用于TMB和MSI分析.
- TMB与主要瘤部位和世界卫生组织 (WHO) 级别的相关性.
主要成果:
- 最常见的主要部位是胰腺 (38.7%) 和直肠 (22.6%).
- 大多数瘤是分化良好的神经内分泌瘤 (61.3%),其中2级是最常见的 (48.4%).
- 中位数TMB为4.7个突变/Mb,所有瘤都被归类为微卫星稳定性 (MSS). 一名患有3级胰腺神经内分泌瘤的患者表现出高TMB (266.4突变/Mb).
结论:
- 尽管GEP-NENs很罕见,但可以呈现出高的TMB.
- 对MSI和TMB的测试对于指导GEP-NEN中的精准医学策略至关重要.
- 需要进一步的研究来阐明这些生物标志物在NENs中的作用.
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