Testa Ugo, Pelosi Elvira
Department of Hematology, Oncology and Molecular Medicine, Upper Health Institute, Viale Regina Elena 299, 00161 Rome, Italy.
Leuk Res Treatment. 2013;2013:275760. doi: 10.1155/2013/275760. Epub 2013 Jul 9.
The development of the genetic studies on acute myeloid leukemias (AMLs) has led to the identification of some recurrent genetic abnormalities. Their discovery was of fundamental importance not only for a better understanding of the molecular pathogenesis of AMLs, but also for the identification of new therapeutic targets. In this context, it is essential to identify AML-associated "driver" mutations, which have a causative role in leukemogenesis. Evidences accumulated during the last years indicate that activating internal tandem duplication mutations in FLT3 (FLT3-ITD), detected in about 20% of AMLs, represents driver mutations and valid therapeutic targets in AMLs. Furthermore, the screening of FLT3-ITD mutations has also considerably helped to improve the identification of more accurate prognostic criteria and of the therapeutic selection of patients.
急性髓系白血病(AML)遗传学研究的发展已导致一些复发性基因异常的鉴定。它们的发现不仅对于更好地理解AML的分子发病机制至关重要,而且对于鉴定新的治疗靶点也具有根本重要性。在这种情况下,识别AML相关的“驱动”突变至关重要,这些突变在白血病发生过程中起致病作用。过去几年积累的证据表明,在约20%的AML中检测到的FLT3内部串联重复激活突变(FLT3-ITD)代表AML中的驱动突变和有效的治疗靶点。此外,FLT3-ITD突变的筛查也极大地有助于改进更准确的预后标准的识别和患者的治疗选择。