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慢性粒单核细胞白血病基因突变的预后意义及治疗反应相关性:一项回顾性队列研究

Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study.

作者信息

Di Jing, Yenwongfai Leonard N, Arshad Talal, Huang Bin, McDowell Jaclyn K, Durbin Eric B, Munker Reinhold, Wei Sainan

机构信息

Department of Pathology & Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USA.

Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

出版信息

Biomedicines. 2024 Oct 28;12(11):2476. doi: 10.3390/biomedicines12112476.

Abstract

This retrospective cohort study investigates the prognostic significance of genetic mutations in Chronic Myelomonocytic Leukemia (CMML) and their association with treatment responses among patients treated at a single institution, juxtaposed with a statewide dataset from Kentucky. The study includes 51 patients diagnosed with CMML under the World Health Organization criteria from January 2005 to December 2023. It examines their genomic profiles and subsequent survival outcomes. The analysis also categorizes patients into CMML-1 and CMML-2 subtypes and assesses survival differences between transformed and non-transformed cases. Mutations in TET2, ASXL1, and SRSF2 were found to significantly influence survival, establishing their roles as critical prognostic markers. Additionally, the cohort from the University of Kentucky exhibited distinct survival patterns compared to the broader Kentucky state population, suggesting that demographic and treatment-related factors could underlie these variances. This research underscores the pivotal role of targeted genetic profiling in deciphering the progression of CMML and refining therapeutic strategies. The findings emphasize the necessity for advanced genetic screening in managing CMML to better understand individual prognoses and optimize treatment efficacy, thereby offering insights that could lead to personalized treatment approaches.

摘要

这项回顾性队列研究调查了慢性粒单核细胞白血病(CMML)中基因突变的预后意义及其与在单一机构接受治疗的患者治疗反应的关联,并与来自肯塔基州的全州数据集进行了对比。该研究纳入了2005年1月至2023年12月期间根据世界卫生组织标准诊断为CMML的51例患者。研究检查了他们的基因组概况和随后的生存结果。分析还将患者分为CMML-1和CMML-2亚型,并评估转化型和非转化型病例之间的生存差异。发现TET2、ASXL1和SRSF2中的突变对生存有显著影响,确立了它们作为关键预后标志物的作用。此外,与更广泛的肯塔基州人群相比,肯塔基大学的队列表现出不同的生存模式,这表明人口统计学和治疗相关因素可能是这些差异的基础。这项研究强调了靶向基因分析在解读CMML进展和完善治疗策略方面的关键作用。研究结果强调了在管理CMML时进行先进基因筛查的必要性,以便更好地了解个体预后并优化治疗效果,从而提供可能导致个性化治疗方法的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7444/11591710/c6492d682c63/biomedicines-12-02476-g001.jpg

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