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目的分析列入 ALL-XH-99治疗方案患儿的细胞遗传学特征与预后的关系,比较其与国外 ALL 患儿细胞遗传学特征的差异。方法根据细胞遗传学表现将115例 ALL 患儿分为4组:正常核型组、超二倍体组、亚二倍体组及假二倍体组。结果①正常核型患儿53例(46.09%),超二倍体患儿29例(25.22%),亚二倍体患儿9例(7.83%),亚二倍体与超二倍体共表达4例(3.48%),假二倍体患儿20例(17.39%);4组患儿5年无事件生存(EFS)率分别为(78.28±6.34)%、(86.07±6.47)%、(53.85±13.83)%与(40.10±12.17)%,差异有统计学意义(P=0.0041)。②4组患儿临床特征及对治疗的反应差异均无统计学意义(P>0.05),但复发、死亡及第二肿瘤的发生差异有统计学意义(P<0.05)。③亚二倍体组与非亚二倍体核型组患儿5年 EFS 率分别为(53.85±13.83)%与(69.98±5.94)%,差异无统计学意义(P>0.05)。④115例 ALL 患儿中,7例有确定的 Ph 染色体,其与 Ph 阴性患儿的4年 EFS 率分别为(28.57±17.07)%与(70.85±5.60)%,差异有统计学意义(P=0.0009)。⑤多因素分析显示年龄(<1岁或>12岁)、不同染色体倍体、Ph 染色体、外周血白细胞数及诱导治疗第19天骨髓幼稚淋巴细胞数≥0.050均具有独立的预后价值。结论纳入 ALL-XH-99治疗方案患儿的细胞遗传学表现与国外报道的 ALL 患儿细胞遗传学表现基本相似,细胞遗传学表现特别是 Ph 染色体核型可有效地用于评估 ALL 患儿的预后。
Objective To analyze the relationship between the cytogenetic features and the prognosis of children with ALL-XH-99 treatment and to compare their differences with the cytogenetic characteristics of children with ALL. Methods According to cytogenetic analysis, 115 children with ALL were divided into 4 groups: normal karyotype group, diploid group, sub-diploid group and pseudodiploid group. Results ① There were 53 cases (46.09%) with normal karyotype, 29 cases (25.22%) with hyperdiploid, 9 cases (7.83%) with sub-diploid, sub-diploid and diploid The 5-year event-free survival (EFS) rate was (78.28 ± 6.34)%, (86.07 ± 6.47)% in 4 cases (3.48%) and 20 pseudo-diploid children (53.85 ± 13.83)% and (40.10 ± 12.17)% respectively, the difference was statistically significant (P = 0.0041). There was no significant difference in the clinical features and response to treatment between the 4 groups (P> 0.05), but the recurrence, death and the occurrence of the second tumor were statistically significant (P <0.05). (5) The 5-year EFS rates in sub-diploid and non-sub-diploid karyotype groups were 53.85 ± 13.83% and 69.98 ± 5.94%, respectively, with no significant difference (P> 0.05). ④ Among 115 cases of ALL children, 7 had definite Ph chromosome, and the 4-year EFS rates of children with Ph-negative were (28.57 ± 17.07)% and (70.85 ± 5.60)%, respectively, with statistical significance (P = 0.0009). ⑤Multivariate analysis showed that age (<1 year or> 12 years old), different chromosome ploidy, Ph chromosome, peripheral blood leukocytes and induced bone marrow marrow lymphocyte number ≥0.050 on the 19th day had independent prognostic value. Conclusion The cytogenetic findings of children with ALL-XH-99 treatment are similar to those reported in foreign countries. The cytogenetic findings, especially the Ph chromosome karyotype, can be effectively used to evaluate the clinical features of children with ALL Prognosis.