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将突变变异等位基因频率纳入髓系恶性肿瘤的临床实践。

Integrating mutation variant allele frequency into clinical practice in myeloid malignancies.

作者信息

Sallman David A, Padron Eric

机构信息

Department of Malignant Hematology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.

Department of Malignant Hematology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.

出版信息

Hematol Oncol Stem Cell Ther. 2016 Sep;9(3):89-95. doi: 10.1016/j.hemonc.2016.04.003. Epub 2016 May 11.

Abstract

Hematologic myeloid neoplasms represent a heterogeneous group of disorders with defined clinical and pathologic characteristics. However, intensive investigation into the genetic abnormalities of these diseases has not only significantly advanced our understanding, but also revolutionized our diagnostic and prognostic capabilities. Moreover, more recent discovery on the impact of clonal burden has highlighted the critical and dynamic role of clonal evolution over time, which is integrally linked to a patient's clinical trajectory. This review will highlight the evidence supporting the incorporation of allelic burden of somatic mutations into clinical practice for the diagnosis and prognosis of myeloid neoplasms.

摘要

血液系统髓系肿瘤是一组具有明确临床和病理特征的异质性疾病。然而,对这些疾病基因异常的深入研究不仅显著推进了我们的认识,还彻底改变了我们的诊断和预后评估能力。此外,最近关于克隆负担影响的发现突出了克隆随时间演变的关键和动态作用,这与患者的临床病程密切相关。本综述将重点介绍支持将体细胞突变的等位基因负担纳入髓系肿瘤诊断和预后临床实践的证据。

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