Moyo Tamara K, Savona Michael R
Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Vanderbilt-Ingram Cancer Center, 2220 Pierce Avenue, 777 Preston Research Building, Nashville, TN, 37232, USA.
Curr Hematol Malig Rep. 2016 Dec;11(6):441-448. doi: 10.1007/s11899-016-0356-8.
Myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal hematologic malignancies characterized by a hypercellular bone marrow and morphologic dysplasia in one or more lineage (i.e., myeloid, erythroid, or megakaryocytic), presenting clinically with leukopenia, anemia, and/or thrombocytopenia and with a propensity to transform to acute myelogenous leukemia. Newer technologies such as next-generation sequencing have allowed better understanding of the genetic landscape in MDS. Nearly 80 % of MDS patients have at least one mutation, and approximately 40 recurrent somatic mutations have been identified to occur in >1 % of cases. Many of these mutations are relevant for prognosis, help with selection of therapy, and/or have specific targeted treatment options. In this article, we will explore the impact of molecular testing on diagnosis, prognosis, and treatment decisions in patients with suspected MDS.
骨髓增生异常综合征（MDS）是一组异质性的克隆性血液系统恶性肿瘤，其特征为骨髓细胞增多以及一个或多个细胞系（即髓系、红系或巨核细胞系）存在形态学发育异常，临床上表现为白细胞减少、贫血和/或血小板减少，并具有转化为急性髓系白血病的倾向。新一代测序等新技术使人们能更好地了解MDS的基因图谱。近80%的MDS患者至少有一个突变，并且已确定约40种复发性体细胞突变在超过1%的病例中出现。这些突变中的许多与预后相关，有助于治疗选择，和/或具有特定的靶向治疗方案。在本文中，我们将探讨分子检测对疑似MDS患者诊断、预后及治疗决策的影响。
