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治疗相关性急性髓系白血病和骨髓增生异常综合征中FLT3基因内部串联重复和激活环突变的低发生率

Low frequency of FLT3 gene internal tandem duplication and activating loop mutation in therapy-related acute myelocyticleukemia and myelodysplastic syndrome.

作者信息

Au Wing Y, Fung Alvin T, Ma Edmond S, Liang Raymond H, Kwong Yok L

机构信息

Department of Medicine, University of Hong Kong, Professorial Block, Queen Mary Hospital, Pokfulam Road, Hong Kong.

出版信息

Cancer Genet Cytogenet. 2004 Mar;149(2):169-72. doi: 10.1016/j.cancergencyto.2003.07.007.

Abstract

FLT3 gene internal tandem duplication (ITD) and activating loop mutations (D835) were determined in 22 cases of therapy-related acute myelocytic leukemia/myelodysplastic syndrome (t-AML/MDS) and 102 cases of de novo AML/MDS. In t-AML/MDS, FLT3 ITD was absent, and D835 was found in only one case of therapy-related acute promyelocytic leukemia (APL). In de novo AML/MDS, however, FLT3 ITD and D835 were significantly more frequent (28 of 102 cases, P=0.024) and were associated with high peripheral blood and marrow blast counts. Our results suggest that different pathogenetic pathways might be involved in t-AML/MDS and de novo AML/MDS.

摘要

在22例治疗相关性急性髓细胞白血病/骨髓增生异常综合征(t-AML/MDS)和102例原发性AML/MDS中检测了FLT3基因内部串联重复(ITD)和激活环突变(D835)。在t-AML/MDS中,未发现FLT3 ITD,仅在1例治疗相关性急性早幼粒细胞白血病(APL)中发现D835。然而,在原发性AML/MDS中,FLT3 ITD和D835的发生率明显更高(102例中有28例,P=0.024),并且与外周血和骨髓原始细胞计数高有关。我们的结果表明,t-AML/MDS和原发性AML/MDS可能涉及不同的致病途径。

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