6月23日，我所孙爱宁教授课题组和陈苏宁教授课题组在《Cancer Genetics》上发表题为“Monosomalkaryotype of chromosome 5/7 was an independent poor prognostic factor forChinese myelodysplastic syndrome patients”的论文，研究发现8.1%的MDS患者具有单体核型，MK的发生与细胞遗传学异常数量成正相关。5号和7号染色体单体累及频率最高，是MDS患者的独立不良预后因素。孙爱宁教授和陈苏宁教授为该文的共同通讯作者。

单体核型(monosomalkaryotype，MK)是指细胞遗传学分析结果存在2个以上常染色体单体或单独1个常染色体单体但同时存在至少1个额外的结构异常。据文献报道单体核型的发生率在骨髓增生异常综合征患者中约占6.4%-16.3%，且与不良预后相关。我们为了进一步明确单体核型的特征及预后，本中心回顾性分析了2080例初诊MDS患者，其中550拥有完整的随访信息，中位随访时间18个月。

结果显示8.1%（168/2080）的MDS患者具有单体核型，且5号和7号常染色体单体是最为常见的。与MK-患者（n=491）相比，MK+ MDS患者（n=59）年龄较大(P=0.001)，骨髓原始细胞比例较高(P<0.001)，预后明显较差(P<0.001，中位生存期6个月和33个月)。在109例相对较差核型组（IPSS-Rpoor and very poor）中，MK+（n=56）和MK-（n=53）组的总体生存亦差异明显（P=0.0025，中位生存期6个月15个月）。另外，多因素分析结果显示5号和7号常染色体单体对MDS患者具有独立的预后意义(HR?=?2.709，P?<?0.001)。

原文摘要：Monosomalkaryotype (MK) was defined as the presence of at least 2 autosomal monosomiesor of a single monosomy associated with at least one additional structuralabnormality. 6.4-16.3% myelodysplastic syndrome (MDS) patients were reported tofulfill the criteria for MK and associated with poor prognosis in the majorityof patients with MDS. In order to further clarify the prognostic significanceof MK in Chinese MDS patients, 2080 primary patients were retrospectivelyanalyzed in our center. MK was observed in 8.1% patients (168/2080), andmonosomies of chromosome 5/7 were the most frequent types of MK. We furtherfound that MK was significantly associated with elderly patients, higher bonemarrow blasts and relatively poor cytogenetics. In addition, MDS patients withMK (n?=?59) had poor survival than those without MK (n?=?491) in total cohort(P?<?0.001), and there was significant difference in the OS between thepatients with MK (n?=?56) and without MK (n?=?53) in the relatively poorcytogenetics group (P?=?0.0025). Incorporation of MK into IPSS-R could furtherstratify MDS patients into different prognostic groups (P?<?0.001).Interestingly, monosomies of chromosome 5/7 rather than MK were significantlyrelated to shorter OS (HR?=?2.709, P?<?0.001) by multivariate analysis. Inconclusion, our results suggested that 8.1% MDS patients were presented withMK, and the incidence of MK increased with the number of cytogeneticabnormalities. Monosomies of chromosome 5/7 were the most frequent MK as wellas an independent poor risk factor for OS in Chinese MDS patients.

原文链接：http://dx.doi.org/10.1016/j.cancergen.2016.06.007