Tavil Betul, Cetin Mualla, Tuncer Murat
Pediatric Hematolog Unit, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Leuk Res. 2006 Feb;30(2):222-4. doi: 10.1016/j.leukres.2005.06.019. Epub 2005 Aug 10.
Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal stem cell disorders that are characterized by morphology identifying dysplastic changes in one or more cell lineages, peripheral blood cytopenias and a propensity to evolve into secondary acute myeloid leukemia (AML). CD34 is commonly expressed in all types of childhood leukemias, whereas CD117 is a reliable and specific marker to detect leukemia cells committed to myeloid lineage. Co-expression of CD34/CD117 may strongly suggest the diagnosis of AML (Rytting ME. Pediatric myelodysplastic syndromes. Curr hematol Rep 2004;3(3):173-7. May; Uçkan D, Hiçsönmez G, Yetgin S, Gürgey A, Cetin M, Karaağaoğlu E, et al. CD34/CD117 co-expression in childhood acute leukemia. Leukemia Res 2000;24:201-6.). We describe the case of a 22 month-old-girl with MDS and Down syndrome who was presented with severe anemia and thrombocytosis at diagnosis, transformed into AML-M7. In our patient, CD34 and CD117 markers were positive on the blast cells of the BM 6 months before the chemotherapy decision. As the disease progressed, CD34/117 co-existence was increased and MDS transformed into AML. As a result, an increase in CD34 and CD117 positivity of the BM blast cells may be associated with a higher risk of leukemic transformation.
骨髓增生异常综合征（MDS）是一组异质性克隆性干细胞疾病，其特征为形态学上可识别一个或多个细胞系的发育异常改变、外周血细胞减少以及演变为继发性急性髓系白血病（AML）的倾向。CD34在所有类型的儿童白血病中通常均有表达，而CD117是检测髓系定向白血病细胞的可靠且特异性标志物。CD34/CD117的共表达可能强烈提示AML的诊断（Rytting ME. 儿童骨髓增生异常综合征。《当代血液学报告》2004年；3(3):173 - 177. 5月；Uçkan D, Hiçsönmez G, Yetgin S, Gürgey A, Cetin M, Karaağaoğlu E等。儿童急性白血病中CD34/CD117的共表达。《白血病研究》2000年；24:201 - 206.）。我们描述了一名22个月大患有MDS和唐氏综合征的女孩的病例，其诊断时表现为严重贫血和血小板增多症，随后转变为AML - M7。在我们的患者中，化疗决定前6个月骨髓原始细胞上的CD34和CD117标志物呈阳性。随着疾病进展，CD34/117的共存增加，MDS转变为AML。因此，骨髓原始细胞CD34和CD117阳性率的增加可能与白血病转化的较高风险相关。
