中文摘要：

目的探讨成人单体核型急性髓系白血病（AML）的细胞遗传学和预后特点。方法2002年9月至2014年11月在中国医学科学院血液病医院诊断、治疗的96例细胞遗传学预后不良AML患者和1例预后中等单纯单体核型AML患者纳人研究，对比分析单体核型患者与其他不良遗传学预后患者的临床特征。结果97例患者中，单体核型者31例（占同期收治的AML患者的2．5％），按照美国西南肿瘤研究组预后分层标准，其中30例染色体异常／〉3种的复杂核型者归人预后不良组，另1例单纯单体核型者归入预后中等组；非单体核型者66例。单体核型常见的染色体单体为-17、-5、-7、-21、-8、-22。96例细胞遗传学预后不良患者中，单体核型患者中位总生存（OS）时间为6．1个月，非单体核型患者中位OS时间未达到，两组中位无复发生存（RFS）时间分别为3．1和18．6个月，差异均有统计学意义（P值分别为0．001和〈0．001）。49例复杂核型患者中，单体核型（30例）和非单体核型（19例）组中位OS时间分别为6．1和10．8个月（P=0．088），中位RFS时间分别为3．1和8．6个月（P=0．009）。结论单体核型主要见于预后不良组中的复杂核型患者，在预后不良及复杂核型群体中单体核型患者具有比非单体核型患者更差的预后。

英文摘要：

Objective To explore the cytogenetic and prognostic significance of monosomal karyotype（MK） in adult patients with acute myeloid leukemia（AML）. Methods From September 2002 to November 2014 in Blood Diseases Hospital, Chinese Academy of Medical Sciences, 97 cases with AML were enrolled, including 96 cases within unfavorable cytogenetic category and an MK case within the intermediate category. The clinical data of MK-positive cases and unfavorable risk MK-negative cases were analyzed. Results There were 31 MK cases, accounting for 2.5% of the AML patients treated at the same period. Thirty of them were complex aberrant karyotypes defined as showing three or more clonal abnormalities and classified into adverse group based on SWOG criteria. The rest one of these 31 MK was intermediate risk according to SWOG criteria. Among MK cases, the most frequent monosomal chromosome were- 17,- 5,- 7,- 21,-8,- 22. In 96 cytogenetic unfavorable AML cases, the median OS period was 6.1 months for MK, the median OS period did not reach for non-MK AML（P=-0.001 ）. And the median relapse free survival （RFS） period was 3.1 and 18.6 months for MK and non-MK AML（P〈0.001 ）, respectively. Both overall survival （OS） and RFS varied significantly between MK and non-MK categories. In 49 complex karyotype AML cases, the median OS was 6.1 and 10.8 months for MK and non- MK AML（P=0.088）, respectively. And the median RFS was 3.1 and 8.6 months for MK and non-MK AML （P=-0.009）, respectively. The RFS varied significantly between MK and non-MK categories. Conclusion Most MK patients were complex karyotype in cytogenetic unfavorable group. Within unfavorable or complex karyotype categories, MK-positive cases had a more adverse prognosis than MK-negative cases.