Tefferi A, Mesa R A, Schroeder G, Hanson C A, Li C Y, Dewald G W
Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Br J Haematol. 2001 Jun;113(3):763-71. doi: 10.1046/j.1365-2141.2001.02796.x.
The prognostic significance of bone marrow cytogenetic lesions in myelofibrosis with myeloid metaplasia (MMM) was investigated in a retrospective series of 165 patients. An abnormal karyotype was demonstrated in 57% of patients. At diagnosis (n = 92), 48% of the patients had detectable cytogenetic abnormalities, and clonal evolution was frequently demonstrated in sequential studies. More than 90% of the anomalies were represented by 20q-, 13q-, +8, +9, 12p-, and abnormalities of chromosomes 1 and 7. Of these, 20q-, 13q- and +8 were the most frequent sole abnormalities, each occurring in 15-25% of the abnormal cases. Trisomy 9 and abnormalities of chromosomes 1 and 7 were equally prevalent but were usually associated with additional cytogenetic lesions. Chromosome 5 abnormalities were infrequent but were over-represented in the group of patients exposed to genotoxic therapy. In a multivariate analysis that incorporated other clinical and laboratory variables, the presence of an abnormal karyotype did not carry an adverse prognosis. Instead, +8, 12p-, advanced age and anaemia were independent prognostic determinants of inferior survival. In particular, survival was not adversely affected by the presence of either 20q- or 13q-.
在一项对165例患者的回顾性研究中，调查了骨髓化生伴骨髓纤维化（MMM）中骨髓细胞遗传学病变的预后意义。57%的患者显示核型异常。在诊断时（n = 92），48%的患者有可检测到的细胞遗传学异常，并且在系列研究中经常显示克隆进化。超过90%的异常表现为20号染色体长臂缺失（20q-）、13号染色体长臂缺失（13q-）、8号染色体三体（+8）、9号染色体三体（+9）、12号染色体短臂缺失（12p-）以及1号和7号染色体异常。其中，20q-、13q-和+8是最常见的单一异常，每种异常在异常病例中出现的比例为15% - 25%。9号染色体三体以及1号和7号染色体异常同样普遍，但通常与其他细胞遗传学病变相关。5号染色体异常不常见，但在接受基因毒性治疗的患者组中过度存在。在纳入其他临床和实验室变量的多变量分析中，核型异常的存在并不预示不良预后。相反，+8、12p-、高龄和贫血是生存较差的独立预后决定因素。特别是，20q-或13q-的存在对生存没有不利影响。
