Tremblay Douglas, Sokol Kelsey, Bhalla Sheena, Rampal Raajit, Mascarenhas John O
Oncology (Williston Park). 2018 Apr 15;32(4):e38-e44.
The advent of high-throughput gene sequencing has revolutionized our understanding of the genetic mutations that drive myeloid malignancies. While these mutations are of interest pathobiologically, they are increasingly being recognized as clinically meaningful in providing diagnostic, prognostic, and therapeutic information to guide patient care. In this first part of our two-part review, we introduce mutation profiling as a relevant clinical tool for hematologists treating patients with myeloid malignancies. Next, we discuss the diagnostic and prognostic role of mutation profiling in myelodysplastic syndrome and acute myeloid leukemia. Finally, we detail the therapeutic implications of specific mutations in myelodysplastic syndrome and acute myeloid leukemia. In Part 2, we will discuss similar clinical approaches using mutation profiling in myeloproliferative neoplasms and other myeloid malignancies.
高通量基因测序的出现彻底改变了我们对驱动髓系恶性肿瘤的基因突变的理解。虽然这些突变在病理生物学方面具有研究价值，但它们在提供诊断、预后和治疗信息以指导患者护理方面的临床意义正日益得到认可。在我们这篇分两部分的综述的第一部分中，我们将突变谱分析作为血液科医生治疗髓系恶性肿瘤患者的一种相关临床工具进行介绍。接下来，我们将讨论突变谱分析在骨髓增生异常综合征和急性髓系白血病中的诊断和预后作用。最后，我们将详细阐述骨髓增生异常综合征和急性髓系白血病中特定突变的治疗意义。在第二部分中，我们将讨论在骨髓增殖性肿瘤和其他髓系恶性肿瘤中使用突变谱分析的类似临床方法。
