骨髓增生异常综合征染色体核型连续性监测的临床意义

目的　探讨骨髓增生异常综合征 (MDS)患者染色体核型演变与病情变化之间的相互关系以及异基因造血干细胞移植对高危患者的疗效。方法　采用骨髓短期培养和G显带技术对 4 1例MDS患者的染色体核型进行连续性监测至少 2次 ,同时密切追踪随访其临床病情进展情况。结果　4 1例患者中初诊时具有异常克隆者 2 4例 ,占 5 8.5 %。随访 7～ 72个月 (中位随访时间为 34个月 ) ,病情有进展者 12例 ,其中 6例具有染色体核型异常克隆演变 ,病情无进展者 18例 ,其中只有 1例出现核型演变。 7例核型演变的附加异常主要累及 2 ,4 ,7,8,10 ,11,17,2 1号染色体。 4 1例中 4例患者经治疗后临床病情缓解的同时染色体异常克隆消失 ,7例接受异基因造血干细胞移植患者除 1例早期死亡外 ,6例完全治愈 ,染色体异常克隆消失。结论　连续监测证实MDS染色体核型演变与病情进展密切相关 ,病情有进展者出现克隆演变的比例远高于病情稳定者。在MDS疾病进展过程中出现附加染色体异常者预后更差 ,提示异基因造血干细胞移植可作为具有克隆性染色体异常的MDS患者的首选治疗方案。

Clinical significance of continuous karyotyping in myelodysplastic syndromes

OBJECTIVE: To explore the relationship between evolution of karyotype and clinical progress in myelodysplastic syndromes (MDS) and estimate the clinical outcomes of high risk patients received allogeneic hematopoietic stem cell transplantation (allo-HSCT). METHODS: Continuous karyotyping were performed using short-term culture of bone marrow cells and G-banding technique to follow up 41 cases of MDS patients. RESULTS: Karyotype analysis showed that 24 cases (58.5%) had clonal karyotypic abnormalities. In a median follow up of 34 months (7 approximately 72 months), 6 cases had karyotype evolution in 12 cases with clinical deterioration, while only one had karyotype evolution in 18 cases without clinical progression. The involved chromosomes included No. 2, 4, 7, 8, 10, 11, 17 and 21. Six out of 7 patients who received allo-HSCT attained complete remission and their abnormal karyotypes returned to normal. Four patients with clinical remission after therapy attained cytogenetic remission too. CONCLUSION: Karyotype evolution showed a strong relationship with clinical progress in MDS patients, and indicated a very poor prognosis. Patients with clinical progress had much higher incidence of clonal evolution than those with relatively stable clinical course. Allo-HSCT should be considered the first choice of therapy for MDS patients with clonal karyotypic abnormalities.