236例骨髓增生异常综合征患者细胞遗传学特征与临床预后分析

Analysis of Cytogenetic Characteristics and Clinical Prognosis in 236 Patients with Myelodysplastic Syndrome

目的:探讨骨髓增生异常综合征(MDS)患者的细胞遗传学特征、临床特点和预后的关系。方法:回顾性分析2013年1月至2017年9月徐州医科大学附属医院收治的236例MDS初诊患者的临床特征及预后情况,随访观察并进行相关性分析。结果:难治性血细胞减少伴单系发育异常(RCUD)33例,难治性贫血伴环状铁粒幼红细胞(RARS)8例,难治性血细胞减少伴多系发育异常(RCMD)70例,难治性贫血(RA)23例,难治性贫血伴原始细胞过多(RAEB-1)46例,(RAEB-2)48例,MDS-U2例,单纯del(5q)6例。RAEB组(RAEB-1+RAEB-2)染色体异常检出率及复杂染色体异常检出率与非RAEB组(RARS+RCMD+RCUD+RA)分别为48.94%vs43.94%和18.09%vs12.69%,差异无明显统计学意义。根据IPSS-R及IPSS积分系统分组,随着危险分层的增高,染色体异常检出率逐渐增加(P<0.05)。在细胞遗传学特征方面:共108例检出染色体异常,检出率为45.76%;其中复杂核型36例,占所有患者的15.25%。染色体异常类型主要包括数目、结构及混合性异常。检出率最高的染色体异常是+8,占染色体异常患者的30.56%(33/108);其次为-7/7q-、del(5q)、del(20q)等。-7/7q-染色体异常占所有核型异常的29.63%(包括单独-7/7q-染色体异常及其合并其他染色体异常)。236例MDS患者中位年龄61(13-88)岁,男女比为1.36∶1。在血细胞特征方面:3系呈不同程度降低或增加,中位WBC数为2.8(0.3-267.1)×10^9/L,中位Hb为69(20-156)g/L,中位Plt为55(2-1733)×10^9/L。32例7号染色体异常患者与128例正常染色体患者1年OS率比较(25%vs44.53%),差异有统计学意义(χ^2=4.05,P<0.05)。结论:染色体核型是影响MDS患者预后的一个独立因素,对于MDS的诊断、治疗及预后评估均有重要意义。7号染色体异常患者总体预后差。

Objective:To investigate the relationship of cytogenetic features,clinical characteristics and prognosis in patients with myelodysplastic syndrome.Methods:The clinical characteristics and prognosis of 236 patients with MDS admitted to the Affiliated Hospital of Xuzhou Medical University from January 2013 to September 2017 were analyzed retrospectively,the follow-up observation and correlation analysis were performed.Results:There were 33 cases of refractory cytopenia with unilateral dysplasia ( RCUD),8 cases of refractory anemia with ring-shaped iron granulocytes ( RARS),70 cases of refractory cytopenia with multiple dysplasia ( RCMD),23 cases of refractory anemia ( RA),46 cases of refractory anemia with excessive blasts ( RAEB-1),48 cases of ( RAEB-2),MDS-U 2 cases,simple del( 5q) 6 cases.The detection analysis showed that the chromosome abnormality rate and complex chromosome abnormality rate in RAEB group ( RAEB-1 + RAEB-2) and in non-RAEB group ( RARS + RCMD + RCUD + RA) were 48.94% vs 43. 94%,and 18.09% vs 12.69%,respectively,which were no statistically different.The grouping according to IPSSR and IPSS showed that the chromosome abnormality rate gradually increased along with enhancement of risk stratification ( P < 0.05 ).The cytogenetic characteristics analysis showed that a total of 108 cases had chromosomal abnormalities,the detection rate was 45.76%,Out of 108 cases,36 cases had complicated karyotypes,accounted for 15.25% of all patients.The types of chromosomal abnormalities mainly include numbers,structural abnormalities and mixed abnormalities.The chromosome abnormality with the highest detection rate was + 8,accounted for 30.56%( 33 / 100) of patients with chromosome abnormalities;followed by -7 /7q-,del( 5q),del( 20q),etc.-7 /7q-chromosome abnormalities accounted for 29.63% of all karyotypic abnormalities ( including -7 /7q-chromosome abnormalities alone and other chromosome abnormalities).The median age of the patients with MDS was 61 ( 13 - 88) years old,and the male-female ratio was 1.36 ∶ 1.Analysis of blood cell characteristics showed that the three lines were reduced or increased to varying degrees.The median WBC count was 2.8 ( 0.3 - 267.1)× 10^9 /L,the median Hb level was 69 ( 20 - 156) g /L,and the median Plt count was 55 ( 2 - 1733)× 10^9 /L.The 1 year OS rate in 32 cases of chromosome 7 abnormality and 128 cases of normal chromosome was 25% and 44.53%,respectively,the difference was statistically significant (χ^2 = 4.05,P < 0.05).Conclusion:Chromosome karyotype is an independent factor affecting the prognosis of patients with MDS.It is important for the diagnosis,treatment and prognosis evalnation of patients with MDS.The overall prognosis of patients with abnormal chromosome 7 is poor.