Andrieu V, Radford-Weiss I, Troussard X, Chane C, Valensi F, Guesnu M, Haddad E, Viguier F, Dreyfus F, Varet B, Flandrin G, Macintyre E
Department of Haematology, Hôpital Necker Enfants-Malades, Paris, France.
Br J Haematol. 1996 Mar;92(4):855-65. doi: 10.1046/j.1365-2141.1996.415954.x.
The t(8;21) identifies a subgroup of acute myeloid leukaemia (AML) with a relatively good prognosis which may merit different treatment. It is associated predominantly, but not exclusively, with AML M2, and corresponds to rearrangements involving the AML1 and ETO genes. AML1-ETO positive, t(8;21) negative cases are well recognized but their incidence is unknown. In order to determine optimal prospective AML1-ETO RT-PCR screening strategies, we analysed 64 unselected AML M1 and M2 cases and correlated the results with other biological parameters. Molecular screening increased the overall detection rate from 8% to 14%. AML1-ETO was found in 3% (1/32) of AML M1 and 25% (8/32) of M2, including three patients without a classic (8;21) but with chromosome 8 abnormalities. It was more common in younger patients. Correlation with morphology enabled development of a scoring system which detected all nine AML1-ETO-positive cases with a false positive rate of 7% (4/55). Although certain AML1-ETO-positive cases demonstrated characteristic immunological features (CD19 and CD34 expression, CD33 negativity), each of these markers was insufficiently specific to permit prediction in an individual case. We conclude that initial routine prospective molecular screening for AML1-ETO in all AMLs, combined with standardized morphological and immunological analysis, is desirable in order to produce improved prognostic stratification and to determine whether screening can ultimately be restricted to appropriate subgroups.
t(8;21) 可识别出预后相对较好的急性髓系白血病（AML）亚组，其可能需要不同的治疗方法。它主要（但并非唯一）与AML M2相关，对应于涉及AML1和ETO基因的重排。AML1-ETO阳性、t(8;21)阴性的病例已得到充分认识，但其发病率尚不清楚。为了确定最佳的前瞻性AML1-ETO逆转录聚合酶链反应（RT-PCR）筛查策略，我们分析了64例未经选择的AML M1和M2病例，并将结果与其他生物学参数进行关联。分子筛查使总体检测率从8%提高到了14%。在AML M1中发现AML1-ETO的比例为3%（1/32），在M2中为25%（8/），其中包括3例没有典型（8;21）但有8号染色体异常的患者。在年轻患者中更为常见。与形态学的关联使得能够开发一种评分系统，该系统检测出了所有9例AML1-ETO阳性病例，假阳性率为7%（4/55）。尽管某些AML1-ETO阳性病例表现出特征性的免疫特征（CD19和CD34表达、CD33阴性），但这些标志物中的每一个特异性都不足以在个体病例中进行预测。我们得出结论，对所有AML进行初始常规前瞻性AML1-ETO分子筛查，并结合标准化的形态学和免疫分析，对于改善预后分层以及确定筛查最终是否可仅限于适当的亚组是可取的。
