骨髓增生异常综合征患者转化为急性髓系白血病与染色体异常核型的关系

The relevance between quantitative and type of chromosomal abnormality and leukemia transformation in myelodysplastic syndrome

目的探讨骨髓增生异常综合征（MDS）患者向急性髓系白血病（AML）的转化率与染色体异常核型数量及类型的关系。方法对138例资料完整的MDS患者进行回顾性分析，按WHO2001标准重新诊断分型，统计MDS患者AML转化率（转白率）、MDS转化为AML时间（转白时间），G显带分析患者初治时染色体核型。结果138例MDS患者中29例转化为AML，转白率为21．01％，中位转白时间为8（3～24）个月。其中正常核型、染色体异常核型分裂相≤5个、染色体异常核型分裂相〉5个的转白率分别为6．2％、23．8％、38．5％，中位转白时间为17（13～22）、13（5—23）、7（3—10）个月。随着染色体异常核型数量增多，转白率有升高的趋势（x^2=14．185，P〈0．01），转白时间与异常核型数量等级呈负相关（r=-0．631，P〈0．01）。-7／7q-、＋8、＋11、复杂核型的MDS患者累积转白率（65．0％、50．O％、30．8％、28．6％）差异有统计学意义（x。=21．555，P〈0．01），经趋势检验，复杂核型、-7／7q-核型异常转白率略高于＋8、＋11核型异常，但二者转白率均显著高于正常核型（x。=8．054，P=0．005），而5q-、20q-、-Y、＋21核型未见转白病例。结论MDS患者有无染色体核型异常、异常核型数量、类型均对早期预测MDS向急性白血病转化具有重要的临床价值。

] Objective To investigate leukemia transformation rate in myelodysplastic syndrome （MDS） and the relationship with quantitative and type of chromosomal abnormality. Methods This study retrospectively analyzed and rediagnosed 138 MDS patients with complete data, investigated the rate and time of leukemia transformation, and analyzed characteristics of chromosome karyotype of de novo patients. Results 29 （21.01%） of 138 patients transformed into leukemia, the rate and the median time of leukemia transformation were 21.01% and 8 （ 3 - 24） months, respectively, among which, the rate of leukemia transformation in normal karyotype, abnormal karyotype analysis of ≤ 5 mitotic cells, and 〉 5 mitotic cells in split phase groups were 6.2% , 23.8% and 38.5% , respectively, and median time of which were 17（ 13 -22）, 13 （5 -23 ）, and 7 （3 -10） months, respectively. Increased trend of leukemia conversion rate along with increased quantity of chromosomal abnormality was observed（ X2 = 14. 185 ,P 〈 0.01 ）. Leukemia transformation time negatively correlated with quantity grade of abnormal karyotype （ r = - 0. 631, P 〈 0.01 ） , The leukemi- a transformation rates in monosomy 7/del 7 q, trisomy 8, trisomy 11, complex karyotype and normal karyo- type groups were 65.0%, 50.0%, 30. 8% and 28.6%, being significantly different （ X2 = 21. 555, P 〈 0.01 ）. Leukemia transformation rate of complex karyotype and monosomy 7/del 7 q was slightly higher than of trisomy 8 and trisomy 11, but both of them were significantly higher than of normal karyotype （ X2 = 8. 054, P = 0.005）. There were no leukemia transformation cases in del 5q, del 20q, monosomy Y, and trisomy 21 group. Conclusion With or without abnormal chromosome karyotype,quantity and types of abnormal karyotype had important clinical value to predict leukemia transformation in patients with MDS.