Department of Hematology-Blood Transfusion, Hospital Jihlava, Jihlava, Czech Republic.
Acta Haematol. 2011;126(3):129-34. doi: 10.1159/000328199. Epub 2011 Jun 24.
Patients with near-tetraploid acute myeloid leukemia (NT-AML) typically have poor survival. We present the case of a 67-year-old Caucasian male with NT-AML M0 who had an unusually long first complete remission of 51 months and an overall survival of 80 months. The only characteristic distinguishing him from other previously described patients with NT-AML was the absence of erythroblastic and/or megakaryocytic dysplasia (EMD) at diagnosis. Molecular-genetic testing for AML fusion transcripts associated with a favorable prognosis (PML/RARα,AML1/ETO, and CBFβ/MYH11) were negative, as were other prognostic markers like MLL-PTD,FLT3-ITD, or mutations of FLT3-D835,NPM1, or CEBPA. Expression studies of ERG,MN1, and EVI1 revealed overexpression of ERG only. The absence of EMD may be a useful prognostic/diagnostic feature of this new rare subtype of NT-AML.
患有近四倍体急性髓细胞白血病(NT-AML)的患者通常生存状况较差。我们报告了一例 67 岁的高加索男性 NT-AML M0 患者,他的首次完全缓解期异常长,达到 51 个月,总生存期为 80 个月。他与其他已描述的 NT-AML 患者唯一不同的特征是在诊断时不存在红系和/或巨核细胞发育异常(EMD)。与预后良好相关的 AML 融合转录本(PML/RARα、AML1/ETO 和 CBFβ/MYH11)的分子遗传学检测均为阴性,其他预后标志物如 MLL-PTD、FLT3-ITD 或 FLT3-D835、NPM1 或 CEBPA 的突变也均为阴性。ERG、MN1 和 EVI1 的表达研究显示仅 ERG 过表达。缺乏 EMD 可能是这种新的罕见 NT-AML 亚型的有用预后/诊断特征。