Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Kaohsiung J Med Sci. 2011 Feb;27(2):49-54. doi: 10.1016/j.kjms.2010.09.001.
The Philadelphia (Ph) chromosome and/or Breakpoint cluster region-Abelson leukemia virus oncogene transcript are unique markers for chronic myeloid leukemia (CML). However, CML demonstrates heterogeneous presentations and outcomes. We analyzed the cytogenetic and molecular results of CML patients to evaluate their correlation with clinical presentations and outcome. A total of 84 newly diagnosed CML patients were enrolled in the study. Patients were treated according to disease status. Bone marrow samples were obtained to perform cytogenetic and molecular studies. Clinical presentations, treatment courses, and survival were reviewed retrospectively. Among 84 patients, 72 had chronic phase and 12 had accelerated phase CML. Cytogenetic study showed 69 (82.1%) with the classic Ph chromosome, 6 (7.2%) with a variant Ph chromosome, and 9 (10.7%) with additional chromosome abnormalities. Fifty-four (64.3%) cases harbored b3a2 transcripts, 29 (34.5%) had b2a2 transcript, and 1 had e19a2 transcript. There was no difference in clinical presentations between different cytogenetic and molecular groups; however, additional chromosome abnormalities were significantly associated with the accelerated phase. Imatinib therapy was an effective treatment, as measured by cytogenetic response, when administered as first- and second-line therapy in chronic phase patients. Survival analysis showed that old age, additional chromosome abnormalities, high Sokal score, and no cytogenetic response in second-line therapy had a significant poor impact (p<0.05). In conclusion, we presented the cytogenetic and molecular pattern of CML patients and demonstrated that the additional chromosome abnormality was associated with poor outcome.
费城（Ph）染色体和/或断裂簇区-Abelson 白血病病毒致癌基因转录本是慢性髓细胞白血病（CML）的独特标志物。然而，CML 表现出异质性的临床表现和结局。我们分析了 CML 患者的细胞遗传学和分子结果，以评估它们与临床表现和结果的相关性。共有 84 例新诊断的 CML 患者纳入本研究。根据疾病状况对患者进行治疗。采集骨髓样本进行细胞遗传学和分子研究。回顾性分析临床表型、治疗过程和生存情况。84 例患者中，72 例为慢性期，12 例为加速期 CML。细胞遗传学研究显示，69 例（82.1%）具有经典 Ph 染色体，6 例（7.2%）具有变异 Ph 染色体，9 例（10.7%）具有额外染色体异常。54 例（64.3%）携带 b3a2 转录本，29 例（34.5%）携带 b2a2 转录本，1 例携带 e19a2 转录本。不同细胞遗传学和分子组之间的临床表现无差异；然而，额外染色体异常与加速期显著相关。伊马替尼治疗是一种有效的治疗方法，作为慢性期患者的一线和二线治疗，其细胞遗传学反应得到了证实。生存分析显示，年龄较大、额外染色体异常、高 Sokal 评分和二线治疗无细胞遗传学反应与预后不良显著相关（p<0.05）。总之，我们呈现了 CML 患者的细胞遗传学和分子模式，并表明额外染色体异常与不良预后相关。
