Hayashi Y, Eguchi M, Sugita K, Nakazawa S, Sato T, Kojima S, Bessho F, Konishi S, Inaba T, Hanada R
Division of Hematology/Oncology, Saitama Children's Medical Center, Japan.
Blood. 1988 Jul;72(1):15-23.
Cytogenetic, immunologic, and electron microscopic studies were performed on the blast cells of 28 pediatric patients with Down's syndrome, 13 with acute leukemia (DS-AL) and 15 with transient myeloproliferative disorders (DS-TMD). Clonal chromosome abnormalities were found in the cells of all patients with DS-AL but not those with DS-TMD. The younger ages and higher hemoglobin concentrations, platelet counts, and WBC counts of DS-TMD patients provided a clinical contrast with the frankly leukemic cases. Myelodysplastic syndrome, characterized by a small percentage of leukemic blast cells, was observed in 11 of the 13 patients with DS-AL compared with none in the DS-TMD group. Electron microscopy disclosed a positive platelet peroxidase reaction in each of the 11 DS-TMD patients and in nine of the 13 DS-AL patients. Immunologic studies revealed antiplatelet-megakaryocyte antigens on the blast cells of the majority of patients in both study groups. Our findings suggest that the blast cells in cases of DS-AL and DS-TMD arise from cells of the megakaryocytic lineage or from a myeloid progenitor with the capacity for megakaryocytic differentiation. The high risk of the development of AL in patients with DS who are less than 3 years old may be related to increased megakaryocyte proliferation in this age group.
对28例患有唐氏综合征的儿科患者的原始细胞进行了细胞遗传学、免疫学和电子显微镜研究，其中13例患有急性白血病（唐氏综合征相关急性白血病，DS-AL），15例患有短暂性骨髓增殖性疾病（唐氏综合征相关短暂性骨髓增殖性疾病，DS-TMD）。在所有DS-AL患者的细胞中均发现了克隆性染色体异常，而DS-TMD患者中未发现。DS-TMD患者年龄较小，血红蛋白浓度、血小板计数和白细胞计数较高，与明显白血病病例形成临床对比。在13例DS-AL患者中，有11例观察到以少量白血病原始细胞为特征的骨髓增生异常综合征，而DS-TMD组无一例出现。电子显微镜显示，11例DS-TMD患者和13例DS-AL患者中的9例血小板过氧化物酶反应呈阳性。免疫学研究显示，两个研究组中大多数患者的原始细胞上存在抗血小板-巨核细胞抗原。我们的研究结果表明，DS-AL和DS-TMD病例中的原始细胞起源于巨核细胞系细胞或具有巨核细胞分化能力的髓系祖细胞。3岁以下唐氏综合征患者发生急性白血病的高风险可能与该年龄组巨核细胞增殖增加有关。
