Ilyas Asad Muhammad, Ahmad Sultan, Faheem Muhammad, Naseer Muhammad Imran, Kumosani Taha A, Al-Qahtani Muhammad Hussain, Gari Mamdooh, Ahmed Farid
BMC Genomics. 2015;16 Suppl 1(Suppl 1):S5. doi: 10.1186/1471-2164-16-S1-S5. Epub 2015 Jan 15.
Acute myeloid leukemia (AML) is a clonal disorder of the blood forming cells characterized by accumulation of immature blast cells in the bone marrow and peripheral blood. Being a heterogeneous disease, AML has been the subject of numerous studies that focus on unraveling the clinical, cellular and molecular variations with the aim to better understand and treat the disease. Cytogenetic-risk stratification of AML is well established and commonly used by clinicians in therapeutic management of cases with chromosomal abnormalities. Successive inclusion of novel molecular abnormalities has substantially modified the classification and understanding of AML in the past decade. With the advent of next generation sequencing (NGS) technologies the discovery of novel molecular abnormalities has accelerated. NGS has been successfully used in several studies and has provided an unprecedented overview of molecular aberrations as well as the underlying clonal evolution in AML. The extended spectrum of abnormalities discovered by NGS is currently under extensive validation for their prognostic and therapeutic values. In this review we highlight the recent advances in the understanding of AML in the NGS era.
急性髓系白血病（AML）是一种造血细胞的克隆性疾病，其特征是骨髓和外周血中不成熟的原始细胞积聚。作为一种异质性疾病，AML一直是众多研究的主题，这些研究专注于揭示临床、细胞和分子变异，旨在更好地理解和治疗该疾病。AML的细胞遗传学风险分层已得到充分确立，临床医生在治疗染色体异常病例时普遍使用。在过去十年中，新的分子异常的相继纳入极大地改变了AML的分类和认识。随着下一代测序（NGS）技术的出现，新分子异常的发现加速了。NGS已成功应用于多项研究，并提供了AML分子畸变以及潜在克隆进化的前所未有的概述。NGS发现的异常谱扩展目前正在对其预后和治疗价值进行广泛验证。在本综述中，我们重点介绍了NGS时代对AML认识方面的最新进展。
