一名患有急性髓系白血病骨髓增生异常综合征前期的3岁男孩患前B细胞急性淋巴细胞白血病：常见早期祖细胞个体发生的细胞遗传学证据
Pre-B acute lymphoblastic leukemia in a 3-year-old boy with pre-acute myelogenous leukemia myelodysplastic syndrome: cytogenetic evidence of common early progenitor cell ontogeny.
作者信息
Rossbach H C, Sutcliffe M J, Chamizo W, Haag M M, Grana N H, Washington K R, Barbosa J L
机构信息
Division of Pediatric Hematology/Oncology and Bone Marrow Transplantation, All Children's Hospital, University of South Florida College of Medicine, St. Petersburg, USA.
出版信息
J Pediatr Hematol Oncol. 1998 Jul-Aug;20(4):347-52. doi: 10.1097/00043426-199807000-00014.
PURPOSE
Myelodysplastic syndromes in children commonly evolve into acute leukemia, usually acute myelogenous leukemia (AML) and rarely acute lymphoblastic leukemia (ALL). The lineage of the leukemia can be predicted based on characteristic morphologic and cytogenetic findings of the marrow and peripheral blood.
PATIENT AND METHODS
A 3-year-old boy had refractory anemia with excess blasts and abnormalities suggestive of pre-AML with highly unusual cytogenetic changes. ALL of pre-B phenotype developed.
RESULTS
Leukoerythroblastic anemia, pseudo Pelger-Huet neutrophils, and dysmyelopoietic hyperplasia of the marrow suggested likely early progression to AML. Complex cytogenetic abnormalities (monosomy 17 and 20, ring chromosome 11 with deletion of bands q23, and a derivative dicentric chromosome 12) were present in both the myelodysplastic marrow and the subsequent ALL.
CONCLUSION
This case presents cytogenetic evidence of common early progenitor cell ontogeny of both malignancies (refractory anemia with excess blasts and ALL).
目的
儿童骨髓增生异常综合征通常会演变为急性白血病，通常是急性髓系白血病（AML），很少会演变为急性淋巴细胞白血病（ALL）。白血病的谱系可以根据骨髓和外周血的特征性形态学和细胞遗传学发现来预测。
患者与方法
一名3岁男孩患有伴有过多原始细胞的难治性贫血以及提示为AML前期且细胞遗传学改变极为异常的情况。最终发展为前B表型的ALL。
结果
白细胞红细胞性贫血、假性Pelger-Huet中性粒细胞以及骨髓的骨髓造血异常增生提示可能早期进展为AML。骨髓增生异常的骨髓以及随后的ALL中均存在复杂的细胞遗传学异常（17号和20号染色体单体、11号环状染色体带q23缺失以及衍生的双着丝粒12号染色体）。
结论
该病例提供了两种恶性肿瘤（伴有过多原始细胞的难治性贫血和ALL）共同早期祖细胞起源的细胞遗传学证据。
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