Reilly J T, Snowden J A, Spearing R L, Fitzgerald P M, Jones N, Watmore A, Potter A
Department of Molecular Haematology, Royal Hallamshire Hospital, Sheffield.
Br J Haematol. 1997 Jul;98(1):96-102. doi: 10.1046/j.1365-2141.1997.1722990.x.
The prognostic significance of cytogenetic abnormalities was determined in 106 patients with well-characterized idiopathic myelofibrosis who were successfully karyotyped at diagnosis. 35% of the cases exhibited a clonal abnormality (37/106), whereas 65% (69/106) had a normal karyotype. Three characteristic defects, namely del(13q) (nine cases), del(20q) (eight cases) and partial trisomy 1q (seven cases), were present in 64.8% (24/37) of patients with clonal abnormalities. Kaplan-Meier plots and log rank analysis demonstrated an abnormal karyotype to be an adverse prognostic variable (P<0.001). Of the eight additional clinical and haematological parameters recorded at diagnosis, age (P<0.01), anaemia (haemoglobin < or = 10 g/dl: P<0.001), platelet (< or = 100 x 10(9)/l, P<0.0001) and leucocyte count (> 10.3 x 10(9)/l; P=0.06) were also associated with a shorter survival. In contrast, sex, spleen and liver size, and percentage blast cells were not found to be significant. Multivariate analysis, using Cox's regression, revealed karyotype, haemoglobin concentration, platelet and leucocyte counts to retain their unfavourable prognostic significance. A simple and useful schema for predicting survival in idiopathic myelofibrosis has been produced by combining age, haemoglobin concentration and karyotype with median survival times varying from 180 months (good-risk group) to 16 months (poor-risk group).
在106例确诊时成功进行核型分析且特征明确的特发性骨髓纤维化患者中，确定了细胞遗传学异常的预后意义。35%的病例表现出克隆性异常（37/106），而65%（69/106）的核型正常。三种特征性缺陷，即13q缺失（9例）、20q缺失（8例）和1q部分三体（7例），在64.8%（24/37）的克隆性异常患者中出现。Kaplan-Meier曲线和对数秩分析表明异常核型是一个不良预后变量（P<0.001）。在诊断时记录的另外八项临床和血液学参数中，年龄（P<0.01）、贫血（血红蛋白≤10g/dl：P<0.001）、血小板（≤100×10⁹/L，P<0.0001）和白细胞计数（>10.3×10⁹/L；P=0.06）也与较短的生存期相关。相比之下，性别、脾脏和肝脏大小以及原始细胞百分比未发现具有显著性。使用Cox回归进行的多变量分析显示，核型、血红蛋白浓度、血小板和白细胞计数保留了其不良预后意义。通过将年龄、血红蛋白浓度和核型相结合，产生了一种简单且有用的预测特发性骨髓纤维化生存期的模式，中位生存期从180个月（低风险组）到16个月（高风险组）不等。
