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一名原发性骨髓增生异常综合征患者中有两个核型不相关的克隆,分别存在5号染色体长臂缺失和20号染色体长臂缺失,该患者随后演变为急性非淋巴细胞白血病。

Two karyotypically unrelated clones with 5q- and 20q- in a primary myelodysplastic syndrome patient evolving into acute nonlymphocytic leukemia.

作者信息

Hirokawa M, Miura I, Miura A B

机构信息

Department of Internal Medicine III, Akita University School of Medicine, Japan.

出版信息

Int J Hematol. 1995 Aug;62(2):121-5. doi: 10.1016/0925-5710(95)00387-8.

Abstract

We describe a patient with primary myelodysplastic syndrome (MDS) evolving into acute nonlymphocytic leukemia (ANLL) who had two cytogenetically unrelated abnormal clones. A 68-year-old man presented with refractory anemia with excess of blasts (RAEB) and developed overt ANLL. Two cytogenetically independent clones, one with 5q- and the other with 20q-, were observed when the patient developed ANLL. The clones carrying both 5q- and 20q- were not detected. Leukemic blast cells were positive for peroxidase, naphtol ASD chloroacetate esterase, CD13, CD33, CD34 and HLA-DR, but negative for alpha-naphthyl butyrate esterase, CD14, CD10, CD19, CD20, CD1, CD2, CD3, CD5 and CD7. Although there have been a few reports describing the presence of multiple cytogenetically unrelated clones in one patient with MDS, this is the first case report that the 5q- and 20q- anomalies are derived from independent clones.

摘要

我们描述了一名原发性骨髓增生异常综合征(MDS)演变为急性非淋巴细胞白血病(ANLL)的患者,该患者有两个细胞遗传学上不相关的异常克隆。一名68岁男性患者最初表现为难治性贫血伴原始细胞增多(RAEB),随后发展为明显的ANLL。当患者发展为ANLL时,观察到两个细胞遗传学上独立的克隆,一个带有5号染色体长臂缺失(5q-),另一个带有20号染色体长臂缺失(20q-)。未检测到同时携带5q-和20q-的克隆。白血病原始细胞过氧化物酶、萘酚ASD氯乙酸酯酶、CD13、CD33、CD34和HLA-DR呈阳性,但α-萘丁酸酯酶、CD14、CD10、CD19、CD20、CD1、CD2、CD3、CD5和CD7呈阴性。虽然已有一些报道描述了一名MDS患者中存在多个细胞遗传学上不相关的克隆,但这是第一例关于5q-和20q-异常源自独立克隆的病例报告。

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