文章：

详细分析骨髓增生异常综合征（MDS）及相关髓系疾病患者的克隆演化和细胞遗传学演化模式

Detailed analysis of clonal evolution and cytogenetic evolution patterns in patients with myelodysplastic syndromes (MDS) and related myeloid disorders

原文发布日期：2018-03-07

DOI: 10.1038/s41408-018-0061-z

类型: Article

开放获取: 是

英文摘要：

Clonal cytogenetic evolution (CE) (i.e., acquisition of new chromosomal aberrations over time) is relevant for the progression of myelodysplastic syndromes (MDS). We performed detailed analysis of CE in 729 patients with MDS and related disorders. Patients with CE showed shorter survival (median OS 18.0 versus 53.9 months; P < 0.01), higher leukemic transformation rate (48.0% versus 21.4%; P < 0.01) and shorter intervals to leukemic transformation (P < 0.01). Two main CE patterns were detected: early versus late CE (median onset 5.3 versus 21.9 months; P < 0.01) with worse survival outcomes for early CE. In the case of CE, del (7q)/−7 (P = 0.020) and del (17p) (P = 0.002) were especially unfavorable. Extending the evolution patterns from Tricot et al. (1985) forming five subgroups, prognosis was best (median OS not reached) in patients with “transient clones/changing clone size”, whereas those with “CE at diagnosis” showed very poor outcomes (P < 0.01 for comparison of all). Detailed sequential cytogenetic analysis during follow-up improves prognostication in MDS patients and acknowledges the dynamic biology of the disease. Evidence, time-point, and patterns of cytogenetic clonal evolution should be included into future prognostic scoring systems for MDS.

摘要翻译： 

克隆性细胞遗传学演变（CE）（即随时间获得新的染色体畸变）与骨髓增生异常综合征（MDS）的进展相关。我们对729例MDS及相关疾病患者进行了详细的CE分析。发生CE的患者总生存期更短（中位OS 18.0个月 vs 53.9个月；P＜0.01）、白血病转化率更高（48.0% vs 21.4%；P＜0.01）且白血病转化间隔时间更短（P＜0.01）。检测到两种主要CE模式：早期CE与晚期CE（中位发生时间5.3个月 vs 21.9个月；P＜0.01），其中早期CE患者生存结局更差。发生CE时，del(7q)/-7（P=0.020）和del(17p)（P=0.002）预后尤为不良。基于Tricot等（1985）提出的五种进化模式亚组扩展分析显示，“一过性克隆/克隆大小变化”患者预后最佳（中位OS未达到），而“诊断时即存在CE”患者预后极差（各组间比较P＜0.01）。随访期间进行详尽的连续细胞遗传学分析可改善MDS患者预后判断，并揭示该疾病的动态生物学特征。细胞遗传学克隆演变的证据、时间点和模式应纳入未来MDS预后评分系统。

原文链接：

Detailed analysis of clonal evolution and cytogenetic evolution patterns in patients with myelodysplastic syndromes (MDS) and related myeloid disorders