单体核型急性髓系白血病的细胞遗传学和预后特点

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.