Fleĭshman E V, Sokova O I, Kirichenko O P, Konstantinova L N, Metel'kova N F, Popa A V, Shneĭder M M
Vestn Ross Akad Med Nauk. 2008(5):3-7.
A majority of the data on the prognostic significance of distinct chromosome changes and combinations of them in pediatric acute myeloid leukemia (AML) has been derived from adult studies, with not numerous published data in pediatric patients. One of points needed to be clarified is prognostic significance of complex karyotype (at least 3 unrelated abnormalities). We investigated characteristic features of complex karyotype in newly diagnosed pediatric AML de novo. Cell clones with complex karyotype were found in 35 of 254 (13.8%) patients at the age from 0 to 15 years studied prior to therapy. The group was divided into 2 subgroups depending on presence of favorable chromosome abnormalities, i.e. (see symbols)(8;21), t(15;17) and inv(16). The abnormalities were absent in 20 cases (1st subgroup), in 15 remaining patients they were identified (2nd subgroup). In 2nd subgroup karyotypes were not so considerably changed and no adverse risk markers were detected as distinct from 1st subgroup. New data were obtained for complex karyotype differences of adult and pediatric AML. In the great majority (76%) of complex karyotypes in our adult patients chromosome abnormalities associated with adverse risk were found but in pediatric patients their frequency was significantly less (30%). The highest rate of complex karyotype we observed in children at the age from 0 to 3 years. Similar data were not published earlier. Complex karyotype is considered to be characteristic of older AML patients and in the majority of the patients the karyotype contains markers of adverse risk. Possibly, worse outcome in older AML patients is connected with the markers but not with multiple chromosome changes. New data of frequency and the peculiarities of complex karyotype in pediatric AML are important for understanding of AML pathogenesis and for development a more effective AML treatment.
关于不同染色体变化及其组合在儿童急性髓系白血病（AML）中的预后意义的大多数数据来自成人研究，儿科患者中发表的数据并不多。需要阐明的一点是复杂核型（至少3种不相关异常）的预后意义。我们研究了新诊断的儿童原发性AML中复杂核型的特征。在接受治疗前研究的254例0至15岁患者中，有35例（13.8%）发现了具有复杂核型的细胞克隆。根据是否存在有利的染色体异常，即（见符号）(8;21)、t(15;17)和inv(16)，将该组分为2个亚组。20例（第1亚组）不存在这些异常，其余15例患者发现存在这些异常（第2亚组）。与第1亚组不同，第2亚组的核型变化不那么明显，未检测到不良风险标志物。获得了成人和儿童AML复杂核型差异的新数据。在我们的成年患者中，绝大多数（76%）复杂核型中发现了与不良风险相关的染色体异常，但在儿科患者中其频率显著较低（30%）。我们观察到0至3岁儿童中复杂核型的发生率最高。类似的数据此前未发表过。复杂核型被认为是老年AML患者的特征，并且在大多数患者中核型包含不良风险标志物。老年AML患者较差的预后可能与这些标志物有关，而不是与多个染色体变化有关。儿童AML中复杂核型频率和特点的新数据对于理解AML发病机制和开发更有效的AML治疗方法很重要。
