Cytogenetic studies among 809 consecutive patients with essential thrombocythemia (ET; median age 59 years; 65% females) revealed normal karyotype in 754 (93%), loss of chromosome Y only (-Y) in 16 (2%), and abnormalities other than -Y in 39 (4.8%), the most frequent being sole 20q- (n = 8). At presentation, abnormal karyotype, excluding -Y, was associated with older age (p = 0.04), higher leukocyte count (p = 0.03) and arterial thrombosis history (p = 0.02); no associations were apparent for JAK2/CALR/MPL mutations whereas ASXL1 mutations clustered with normal karyotype/-Y and TP53 with abnormal karyotype. Survival was significantly shorter in patients with abnormal karyotype or -Y, compared to those with normal karyotype (median 12, 10, and 21 years, respectively; p < 0.0001). During multivariable analysis that included IPSET (international prognostic score for ET) variables, abnormal karyotype (p < 0.01, HR 2.0), age >60 years (p < 0.01, HR 4.5), leukocytosis >11 × 109/L (p < 0.01, HR 1.5), and male gender (p < 0.01, HR 1.4) were independently associated with inferior survival; abnormal karyotype and age >60 years remained significant, along with SF3B1/SRSF2/U2AF1/TP53 mutations (p = 0.04; HR 2.9), when the latter was included in the multivariable model. The current study suggests prognostic relevance for karyotype in ET.
在809例连续收治的原发性血小板增多症（ET；中位年龄59岁；65%为女性）患者中进行的细胞遗传学研究显示，754例（93%）核型正常，仅16例（2%）存在Y染色体缺失（-Y），39例（4.8%）存在除-Y以外的核型异常，其中最常见的是单纯性20q-（8例）。初诊时，排除-Y的异常核型与较高年龄（p=0.04）、较高白细胞计数（p=0.03）及动脉血栓病史（p=0.02）相关；与JAK2/CALR/MPL突变未见明显关联，而ASXL1突变多出现于核型正常/-Y患者，TP53突变则多见于异常核型患者。与核型正常患者相比，核型异常或-Y患者的生存期显著缩短（中位生存期分别为21年、12年和10年；p<0.0001）。在多变量分析（包含国际原发性血小板增多症预后评分变量）中，异常核型（p<0.01，HR 2.0）、年龄>60岁（p<0.01，HR 4.5）、白细胞增多>11×10⁹/L（p<0.01，HR 1.5）及男性（p<0.01，HR 1.4）均与较差的生存率独立相关；当多变量模型纳入基因突变变量时，异常核型和年龄>60岁仍具有显著意义，同时SF3B1/SRSF2/U2AF1/TP53突变（p=0.04；HR 2.9）也显示预后影响。本研究提示核型对ET具有预后参考价值。
肿瘤(癌症)患者之家