SRSF2/TET2共突变髓系肿瘤的分子格局和临床结果

IF 2.2 4区 医学 Q3 HEMATOLOGY Leukemia & Lymphoma Pub Date : 2025-03-01 Epub Date: 2024-11-29 DOI:10.1080/10428194.2024.2432581
Samuel G Cockey, Hailing Zhang, Mohammed Hussaini, Ling Zhang, Lynn Moscinski, Ethan Yang, Julie Li, Le Wang, Jinming Song
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引用次数: 0

摘要

SRSF2和TET2基因的突变经常出现在各种髓系肿瘤中。SRSF2/TET2共突变对患者生存的潜在影响尚不完全清楚。我们从NextGen约8000名患者的测序数据库中确定了412名SRSF2/TET2共突变患者,并报告了可能是最大的队列研究。我们的研究表明这些共突变存在于髓系肿瘤的谱中,表现出不同的遗传和分子特征。大多数具有这些共突变的患者核型正常。有趣的是,我们的研究提供了关于ASXL1、RUNX1和KRAS等其他突变的患病率及其对患者预后的潜在影响的见解。我们发现ASXL1、RUNX1和KRAS会对这些患者的生存产生负面影响,但在不同的形态学诊断类别中影响不同,表明这些基因之间存在复杂的相互作用。这项研究强调了髓系肿瘤治疗中个性化方法的必要性。
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Molecular landscape and clinical outcome of SRSF2/TET2 Co-mutated myeloid neoplasms.

The mutations in SRSF2 and TET2 genes are frequently present in various myeloid neoplasms. The potential impact of SRSF2/TET2 co-mutations on patient survival is incompletely understood. We identified 412 patients with SRSF2/TET2 co-mutations from our NextGen sequencing database of around 8000 patients and reported likely the largest cohort study. Our study demonstrated the presence of these co-mutations in a spectrum of myeloid neoplasms, which show different genetic and molecular characteristics. Most of the patients with these co-mutations had normal karyotype. Interestingly, our study provided insights into the prevalence of additional mutations such as ASXL1, RUNX1, and KRAS with this co-mutation and their potential impact on patients' prognosis. We found that ASXL1, RUNX1, and KRAS can negatively impact these patients' survival with different impacts in different morphological diagnosis categories, suggesting a complex interaction between these genes. This study underscores the need for personalized approaches in the treatment of myeloid neoplasms.

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来源期刊
Leukemia & Lymphoma
Leukemia & Lymphoma 医学-血液学
CiteScore
4.10
自引率
3.80%
发文量
384
审稿时长
1.8 months
期刊介绍: Leukemia & Lymphoma in its fourth decade continues to provide an international forum for publication of high quality clinical, translational, and basic science research, and original observations relating to all aspects of hematological malignancies. The scope ranges from clinical and clinico-pathological investigations to fundamental research in disease biology, mechanisms of action of novel agents, development of combination chemotherapy, pharmacology and pharmacogenomics as well as ethics and epidemiology. Submissions of unique clinical observations or confirmatory studies are considered and published as Letters to the Editor
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