Clinical, Molecular, and Prognostic Significance of WHO Type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and Various Other 3q Abnormalities in Acute Myeloid Leukemia
Clinical, Molecular, and Prognostic Significance of WHO Type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and Various Other 3q Abnormalities in Acute Myeloid Leukemia
复制标题
DOI：
10.1200/jco.2010.29.2771
复制
发表时间：
2010-08-20
影响因子：
45.3
通讯作者：
Doehner, Hartmut
中科院分区：
文献类型：
--
作者：
Lugthart, Sanne;Groschel, Stefan;Doehner, Hartmut
目的急性髓系白血病（AML）inv（3）（q21; q26.2）/t（3; 3）（q21; q26.2）inv（3）/t（3; 3）]是WHO分类中公认的一种特殊类型。染色体3q异常的AML的风险分配和临床和遗传学特征以外的inv（3）/t（3; 3）仍然在很大程度上undertaking.Patients和MethodsCytogenetics，分子遗传学，治疗反应，并在6,515新诊断的成人AML患者的结果分析。患者接受了荷兰-比利时血液肿瘤合作组/瑞士临床癌症研究组（HOVON/SAKK; n = 3，501）和德国-奥地利急性髓性白血病研究组（AMLSG; n = 3，014）方案的治疗。采用实时定量聚合酶链反应（RT-PCR）检测EVI 1和MDS 1/EVI 1的表达。定义了4个不同的组：A：inv（3）/t（3; 3），32%; B：平衡t（3q 26），18%; C：平衡t（3q 21），7%; D：其他3q异常，43%。单体7是组（A）中最常见的额外畸变，66%;（B），31%;和（D），37%。N-RAS突变和分离的EVI 1与MDS 1/EVI 1过表达与inv（3）/t（3; 3）相关。诊断时inv（3）/t（3; 3）和平衡t（3q 21）的患者表现出较高的WBC和血小板计数。在多变量分析中，只有inv（3）/t（3; 3），而不是t（3q 26）和t（3q 21），预测无复发生存率降低（风险比[HR]，1.99; P
PurposeAcute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3; 3)(q21; q26.2) inv(3)/t(3; 3)] is recognized as a distinctive entity in the WHO classification. Risk assignment and clinical and genetic characterization of AML with chromosome 3q abnormalities other than inv(3)/t(3; 3) remain largely unresolved.Patients and MethodsCytogenetics, molecular genetics, therapy response, and outcome analysis were performed in 6,515 newly diagnosed adult AML patients. Patients were treated on Dutch-Belgian HematoOncology Cooperative Group/Swiss Group for Clinical Cancer Research (HOVON/SAKK; n = 3,501) and German-Austrian Acute Myeloid Leukemia Study Group (AMLSG; n = 3,014) protocols. EVI1 and MDS1/EVI1 expression was determined by real-time quantitative polymerase chain reaction.Results3q abnormalities were detected in 4.4% of AML patients (288 of 6,515). Four distinct groups were defined: A: inv(3)/t(3; 3), 32%; B: balanced t(3q26), 18%; C: balanced t(3q21), 7%; and D: other 3q abnormalities, 43%. Monosomy 7 was the most common additional aberration in groups (A), 66%; (B), 31%; and (D), 37%. N-RAS mutations and dissociate EVI1 versus MDS1/EVI1 overexpression were associated with inv(3)/t(3; 3). Patients with inv(3)/t(3; 3) and balanced t(3q21) at diagnosis presented with higher WBC and platelet counts. In multivariable analysis, only inv(3)/t(3; 3), but not t(3q26) and t(3q21), predicted reduced relapse-free survival (hazard ratio [HR], 1.99; P