640例急性髓系白血病患者染色体核型与年龄相关性研究

The study on relationship between age and cytogenetic subgroups in 640 patients with de novo acute myeloid leukemia

目的分析不同年龄组急性髓系白血病（AML）患者细胞遗传学特点，探究AML细胞遗传学与患者年龄的相关性。方法回顾分析2004年1月至2011年12月初诊原发AML患者640例。收集患者治疗前骨髓标本，采用G显带技术分析染色体核型，核型异常按《人类细胞遗传学国际命名体制（ISCN2009）》进行识别和描述。结果正常核型、平衡核型及非平衡核型呈现不同的年龄分布特征。随年龄增加，正常核型的比例从6．67％（0～9岁组）升高到58．33％（≥70岁组）（X^2=20．68，P=0．001），平衡核型的发生率从73．33％（0～9岁组）降低到11．11％（≥70岁组）（X^2=48．22，P〈0．01），非平衡核型的发生率从3．39％（10-19岁组）上升到30．56％（≥70岁组）（X。=18．92，P=0．004）；复杂核型在0～9岁组的发生率为6．67％，10～19岁组及20～29岁组未检出，从30～39岁组到／〉70岁组，其发生率由1．72％升高到11．11％（X^2=8．34，P=0．080）；单体型核型在30岁以下组未检出，30岁以上组其发生率随年龄增加虽有上升趋势，但差异无统计学意义（X^2=4．78，P=0．311）。结论不同染色体核型具有不同的年龄分布特征，这可能为AML病因学研究及预防提供有益参考。

Objective To analyze the cytogenetic characteristics of different age subgroups in pa- tients with acute myeloid leukemia （AML） , and to explore the relationship between age and cytogenetics. Methods Between January 2004 and December 2011, Bone marrow（ BM ） samples from 640 patients with de novo AML were analyzed retrospectively. The analyses were performed according to standard culturing and banding techniques, and clonal abnormalities were defined and described according to the International System for Human Cytogenetic Nomenclature （ ISCN 2009）. The cytogenetic subtypes were performed as normal, bal- anced, and unbalanced karyotypes. In the last group, the age distribution of complex and monosomal karyo- types were further analyzed. The patients were divided into 8 age groups： 0 -9, 10 - 19, 20 -29, 30 -39, 40 -49, 50 -59, 60 -69, and ≥70 year old groups. Results The distribution of normal, balanced, and unbalanced karyotypes showed age specific characteristics. The incidence of normal karyotype increased from 6.67 % （0 - 9 year old ） to 58.33 % （ ≥ 70 ） （ X^2 = 20.68, P = 0.001 ） and balanced karyotype decreased from 73.33% （0 - 9） to 11.11% （≥70） （ X^2 = 48.22, P 〈 0.01 ）. The frequency of unbalanced karyotypes in- creased from 20.0% （0 - 9） to 30.56% （ ≥ 70） （ X^2 = 18. 963, P = 0. 008）. The frequency of complex kar- yotype was 6.67% in 0 -9 year old group, followed by 0% in 10 - 19 and 20 -29 year old group, and from 1.72% to 11.11% from 30 - 39 to ≥70 year old group （X^2 = 8. 341, P = 0.08）. Monosomal karyotype was only detected in patients in 30 year old or older groups. Although an increased tendency was observed with ages, there was no significant difference （X^2 = 4. 778, P = 0.311 ）. Conclusion The different age profiles of the cytogenetic subtypes may indicate the different mechanisms of the pathogenesis of AML, which may also offer beneficial information for etiological research of AML.