异常核型骨髓增生异常综合征64例预后分析

Prognosis of 64 cases of myelodysplastic syndrome patients with abnormal karyotypes

目的探讨骨髓增生异常综合征（MDS）患者染色体异常与预后的关系，对治疗效果进行分析。方法回顾性分析122例MDS患者染色体核型，用吉姆萨显带法进行检测。难治性贫血（RA）、环形铁幼粒细胞难治性贫血（RAS）的治疗以诱导分化剂及刺激造血药物为主。原始细胞过多难治性贫血（RAEB）、转化型原始细胞过多难治性贫血（RAEB．t）、慢性粒一单核细胞白血病（CMML）的治疗以小剂量化疗和小剂量联合化疗方案为主。分析异常核型MDS患者疗效，以同期住院的正常核型MDS患者为对照。结果检出异常核型MDS患者64例，治疗后完全缓解（CR）17例，CR率26．6％。同期正常核型MDS患者58例，CR 30例，cR率51．7％。正常和异常核型患者cR率差异有统计学意义（Х^2=8．13，P：0．04）。复杂核型、-7、＋8核型异常者易进展为急性白血病。结论染色体核型分析在MDS的诊断与预后判断中有重要意义，不同的染色体核型改变进展为白血病的风险不同。

Objective To investigate the correlation between the chromosomal abnormalities and prognosis of the myelodysplastic syndrome （MDS） patients, and analyze the effects of treatment. Methods Karyotype analysis of 122 patients according to the international human cytogenetics （ISCN） criteria. Treatment of RA and RAS were mainly dependent on agents to induce differentiation of hematopoietic cells and drugs based. RAEB, RAEB-t, CMML treatment were dependent on low-dose chemotherapy and low-dose combination chemotherapy regimens. The treatments of 64 MDS patients with abnormal karyotype were analyzed and compared with control group, and 58 normal karyotype MDS patients were hospitalized in the same period. Results After treatments, 17 cases gained complete remission among 64 patients with abnormal karyotype MDS patients. The CR rate was 26.6 %. While in control group, 30 gained CR in 58 MDS patients with normal karyotype. The CR rate was 51.7 %. Comparing with the CR patients of normal karyotype, the number of patients with abnormal karyotype of CR was significantly lower （X^2 = 8.13, P 〈 0.05）. Conclusion Karyotype analysis shows important significance in the diagnosis and prognosis of MDS. Karyotype transformation demonstrates differently in the risk of leukemia progress.