Rau A T K, Shreedhara A K, Kumar S
Department of Pediatrics and Department of Pathology, M. S. Ramaiah Medical College, Bangalore, India.
Ochsner J. 2012 Fall;12(3):216-20.
Myelodysplastic syndromes (MDSs) and other myeloproliferative disorders (MPDs) are rare entities, particularly in children. The latest classification of MPDs separates them into 3 major groups: MDS, juvenile myelomonocytic leukemia, and Down syndrome-associated myeloid leukemia.Although the blast count plays a central role in differentiating leukemias from MDSs, it is by no means sacrosanct; biological features as well as disease characteristics are also important considerations for diagnosis. Genetic alterations in MDSs have increasingly been noted in a majority of patients and when detected make diagnosis easy. Hematopoietic stem cell transplant is the treatment of choice, while newer agents have shown promise in adults and are presently in the advanced stages of clinical trials.
骨髓增生异常综合征（MDS）和其他骨髓增殖性疾病（MPD）是罕见病，尤其是在儿童中。MPD的最新分类将它们分为三大类：MDS、青少年粒单核细胞白血病和唐氏综合征相关髓系白血病。虽然原始细胞计数在区分白血病和MDS中起着核心作用，但它绝非神圣不可侵犯；生物学特征以及疾病特点也是诊断时的重要考虑因素。越来越多的MDS患者被发现存在基因改变，一旦检测到，诊断就会变得容易。造血干细胞移植是首选治疗方法，而新型药物在成人中已显示出前景，目前正处于临床试验的后期阶段。
