Bao Liming, Wang Xiaoqin, Ryder John, Ji Meirong, Chen Yan, Chen Hui, Sun Hengjuan, Yang Yongchen, Du Xinyu, Kerzic Patrick, Gross Sherilyn A, Yao Lihong, Lv Ling, Fu Hua, Lin Guowei, Irons Richard D
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, College of Medicine, University of Cincinnati, Cincinnati, OH 45229, USA.
Eur J Haematol. 2006 Jul;77(1):35-45. doi: 10.1111/j.1600-0609.2006.00660.x. Epub 2006 Mar 27.
We report a prospective study of 174 unselected adult de novo acute myeloid leukemia (AML) cases diagnosed using the WHO classification. Of those, 57 (33%) were AML with recurrent cytogenetic abnormalities, 41 were (24%) AML with multilineage dysplasia, 74 (42%) were AML not otherwise categorized, and two were acute leukemias of ambiguous lineage. Clonal cytogenetic abnormalities were detected in 64% of the WHO AML cases with t(15;17) (15%), t(8;21) (12%), +8 (11%), -7/del7q (8%) and del9q (5%) being the most common ones. The FLT3/ITD mutations (FMS-like tyrosine kinase 3/internal tandem duplication) were observed in 12% of the WHO AML cases, which is much lower than ones in the literature, while the 6% incidence of the FLT3-activating loop mutations (either FLT3/D835 or FLT3/I836) was comparable with others. Both mutations were associated with leukocytosis. Our study also suggests that the FLT3 mutations are biomarkers independent of cytogenetic characteristics.
我们报告了一项对174例未经过挑选的初发成人急性髓系白血病(AML)病例的前瞻性研究,这些病例采用世界卫生组织(WHO)分类法进行诊断。其中,57例(33%)为伴有复发性细胞遗传学异常的AML,41例(24%)为伴有多系发育异常的AML,74例(42%)为其他未分类的AML,2例为谱系不明确的急性白血病。在64%的WHO AML病例中检测到克隆性细胞遗传学异常,其中t(15;17)(15%)、t(8;21)(12%)、+8(11%)、-7/del7q(8%)和del9q(5%)最为常见。FLT3/ITD突变(FMS样酪氨酸激酶3/内部串联重复)在12%的WHO AML病例中被观察到,这一比例远低于文献报道,而FLT3激活环突变(FLT3/D835或FLT3/I836)6%的发生率与其他研究相当。两种突变均与白细胞增多有关。我们的研究还表明,FLT3突变是独立于细胞遗传学特征的生物标志物。