Wang Hong, Wang Xiao-Qin, Xu Xiao-Ping, Lin Guo-Wei
Department of Hematology, Huashan Hospital, Fudan University, 12 Wulumuqi Road central, Shanghai 200040, China.
Cancer Genet Cytogenet. 2010 Jan 15;196(2):159-66. doi: 10.1016/j.cancergencyto.2009.09.015.
Clonal chromosomal abnormalities are observed in 30-50% of primary myelodysplastic syndrome (MDS) patients. Although the prognostic relevance of cytogenetics is generally appreciated, the prognostic value of cytogenetic evolution has rarely been evaluated. In this study, we retrospectively analyzed cytogenetic features at diagnosis and during follow-up in 85 patients with primary MDS. Cytogenetic evolution occurred in 18 of the 85 patients (21%), with chromosomes 8, 5, and 1 most often involved. Patients with higher levels of marrow blasts (P = 0.034), more advanced stages of World Health Organization (WHO) subtypes (44% vs. 16%, P = 0.035), and higher risk International Prognostic Scoring System (IPSS) subgroups (47% vs. 16%, P = 0.021) had higher incidences of developing cytogenetic evolution. Furthermore, the median survival of patients in the group with cytogenetic evolution was 25.8 months, compared with 45.4 months for patients in the group without cytogenetic evolution (P = 0.01). The same result was also found for time to progression: patients with cytogenetic evolution progressed more rapidly than those without cytogenetic evolution (P = 0.007). Knowledge of cytogenetic evolution offers useful information for clinicians to make more accurate prognostic assessments for patients with MDS.
30%-50%的原发性骨髓增生异常综合征（MDS）患者存在克隆性染色体异常。虽然细胞遗传学的预后相关性已得到普遍认可，但细胞遗传学演变的预后价值却很少被评估。在本研究中，我们回顾性分析了85例原发性MDS患者诊断时及随访期间的细胞遗传学特征。85例患者中有18例（21%）发生了细胞遗传学演变，其中8号、5号和1号染色体最常受累。骨髓原始细胞比例较高（P = 0.034）、世界卫生组织（WHO）亚型分期较晚（44%对16%，P = 0.035）以及国际预后评分系统（IPSS）高危亚组（47%对16%，P = 0.021）的患者发生细胞遗传学演变的发生率更高。此外，发生细胞遗传学演变的患者组中位生存期为25.8个月，而未发生细胞遗传学演变的患者组为45.4个月（P = 0.01）。疾病进展时间也得到了相同结果：发生细胞遗传学演变的患者比未发生演变的患者进展更快（P = 0.007）。细胞遗传学演变的相关知识为临床医生对MDS患者进行更准确的预后评估提供了有用信息。
