Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Am J Hematol. 2011 Jun;86(6):490-8. doi: 10.1002/ajh.22047.
The myelodysplastic (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older male and in individuals with prior exposure to cytotoxic therapy.
Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy. Information obtained from additional studies such as karyotype, flow cytometry, or molecular genetics is complementary but not diagnostic. RISK-STRATIFICATION: Prognosis of patients with MDS can be calculated using a number of scoring systems. In general, all these scoring systems include analysis of peripheral cytopenias, percentage of blasts in the bone marrow, and cytogenetic characteristics. The most commonly used system is the International Prognostic Scoring System. This score divides patients into a lower risk subset (low and intermediate-1) and a higher risk subset (int-2 and high). Other more modern systems have been developed that allow more precise risk calculation.
RISK-ADAPTED THERAPY: Therapy is selected based on risk, transfusion needs, percent of bone marrow blasts and more recently cytogenetic profile. Goals of therapy are different in lower risk patients than in higher risk. In lower risk, the goal is to decrease transfusion needs and transformation to higher risk disease or AML. In higher risk, the goal is to prolong survival. Current available therapies include growth factor support, lenalidomide, hypomethylating agents, intensive chemotherapy, and allogeneic stem cell transplantation. The use of lenalidomide has significant clinical activity in patients with lower risk disease, anemia, and a chromosome 5 alteration. 5-azacitidine and decitabine have activity in higher risk MDS. 5-azacitidine has been shown to improve survival in higher risk MDS. Additional supportive care measures may include the use of prophylactic antibiotics and iron chelation.
At the present time, there are no approved interventions for patients with progressive or refractory disease particularly after hypomethylating based therapy. Options include cytarabine-based therapy, transplantation, and participation on a clinical trial.
骨髓增生异常（MDS）是一组非常异质性的髓系疾病，其特征是外周血细胞减少和向急性髓系白血病（AML）转化的风险增加。MDS 更常见于老年男性和有细胞毒性治疗史的个体。
MDS 的诊断基于骨髓抽吸和活检的形态学证据，即观察到的发育不良。从核型、流式细胞术或分子遗传学等其他研究中获得的信息是补充性的，但不是诊断性的。
可以使用多种评分系统来计算 MDS 患者的预后。一般来说，所有这些评分系统都包括外周血细胞减少、骨髓中原始细胞的百分比和细胞遗传学特征的分析。最常用的系统是国际预后评分系统。该评分将患者分为低危亚组（低危和中危-1）和高危亚组（中危-2 和高危）。已经开发出其他更现代的系统，可以更精确地计算风险。
根据风险、输血需求、骨髓原始细胞百分比和最近的细胞遗传学特征选择治疗。低危患者和高危患者的治疗目标不同。在低危患者中，治疗的目的是减少输血需求和向高危疾病或 AML 的转化。在高危患者中，治疗的目的是延长生存期。目前可用的治疗方法包括生长因子支持、来那度胺、低甲基化剂、强化化疗和异基因造血干细胞移植。来那度胺在低危疾病、贫血和 5 号染色体改变的患者中具有显著的临床活性。5-氮杂胞苷和地西他滨在高危 MDS 中有效。5-氮杂胞苷已被证明可改善高危 MDS 患者的生存。其他支持性护理措施可能包括预防性使用抗生素和铁螯合。
目前，对于进展性或难治性疾病患者，特别是在接受低甲基化治疗后，尚无批准的干预措施。选择包括基于阿糖胞苷的治疗、移植和临床试验参与。
