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急性髓系白血病的分子特征:预后和治疗意义。

Molecular Landscape of Acute Myeloid Leukemia: Prognostic and Therapeutic Implications.

机构信息

Wellcome Trust-MRC Cambridge Stem Cell Institute, Cambridge Biomedical Campus, Cambridge, UK.

Department of Haematology, University of Cambridge, Cambridge, UK.

出版信息

Curr Oncol Rep. 2020 Jun 1;22(6):61. doi: 10.1007/s11912-020-00918-7.

Abstract

PURPOSE OF REVIEW

The field of acute myeloid leukemia (AML) has been revolutionized in recent years by the advent of high-throughput techniques, such as next-generation sequencing. In this review, we will discuss some of the recently identified mutations that have defined a new molecular landscape in this disease, as well as their prognostic, predictive, and therapeutic implications.

RECENT FINDINGS

Recent studies have shown how many cases of AML evolve from a premalignant period of latency characterized by the accumulation of several mutations and the emergence of one or multiple dominant clones. The pattern of co-occurring mutations and cytogenetic abnormalities at diagnosis defines risk and can determine therapeutic approaches to induce remission. Besides the genetic landscape at diagnosis, the continued presence of particular gene mutations during or after treatment carries prognostic information that should further influence strategies to maintain remission in the long term. The recent progress made in AML research is a seminal example of how basic science can translate into improving clinical practice. Our ability to characterize the genomic landscape of individual patients has not only improved our ability to diagnose and prognosticate but is also bringing the promise of precision medicine to fruition in the field.

摘要

目的综述

近年来,高通量技术(如下一代测序)的出现彻底改变了急性髓细胞白血病(AML)领域。在这篇综述中,我们将讨论一些最近发现的突变,这些突变定义了该疾病的新分子图谱,以及它们的预后、预测和治疗意义。

最新发现

最近的研究表明,许多 AML 病例是从潜伏前期演变而来的,潜伏前期的特征是积累了多个突变,并出现一个或多个优势克隆。诊断时同时发生的突变和细胞遗传学异常模式定义了风险,并可以确定诱导缓解的治疗方法。除了诊断时的遗传图谱外,治疗期间或之后特定基因突变的持续存在具有预后信息,这也应该进一步影响长期维持缓解的策略。AML 研究的最新进展是基础科学如何转化为改善临床实践的典范。我们对个体患者基因组图谱进行特征描述的能力不仅提高了我们的诊断和预后能力,而且也使精准医学在该领域成为现实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56ac/7261725/aa250ebc76e4/11912_2020_918_Fig1_HTML.jpg

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