AbstractObjective: To investigate the clinical characteristics and prognostic factors in childhood acute lymphoblastic leukemia with MLL gene-rearrangement-positive (MLL-r+ ALL).
Methods: The clinical data of 1 414 newly diagnosed children with ALL admitted to five hospital in Fujian province from April 2011 to December 2020 were retrospectively analyzed. The clinical characteristics and efficacy of MLL-r+ and MLL-r- subgroup were compared. The prognostic factors of MLL-r ALL were analyzed by COX regression model.
Results: Among all children with ALL, the proportion of patients aged less than 1 year old was 1.8%, and the detection rate of MLL-r+ was 3.4% (48/1 414). The positive detection rate of MLL-r in the age groups <1 year old, and ≥1 year old and ≤14 years old was 38.5% (10/26) and 2.7 (38/1 388), respectively, the difference was statistically significant (P<0.000). Compared with MLL-r- group, the MLL-r+ group had a higher proportion of patients with age <1 year, white blood cell (WBC) count ≥50×109/L, combined central nervous system leukemia (CNSL) and testicular leukemia(TL), while MRD <0.01% on d 33 or d 46 of induction chemotherapy was lower (all P<0.05). The expected 10-year event free survival(EFS) rate and overall survival(OS) rate of the MLL-r+ group were significantly lower than those of the MLL-r- group （EFS： 49.9% vs 77.0%； OS: 55.3% vs 82.9%， P<0.05). COX regression model analysis showed that age <1 year, minimal residual disease (MRD) ≥0.01% on d 33 or d 46 of induction chemotherapy were independent risk factors for worse OS and EFS in MLL-r+ ALL patients (all P<0.05).
Conclusion: Age <1 year old, high WBC, concomitant CNSL and TL are more common in children with MLL-r+ ALL at initial diagnosis, with poor early treatment response and long-term prognosis. Age <1 year old at initial diagnosis and MRD positive after induction chemotherapy may be risk factors for poor prognosis.
题目: MLL基因重排阳性儿童急性淋巴细胞白血病患者 临床特征及预后分析.
目的: 探讨MLL基因重排（MLL-r）阳性儿童急性淋巴细胞白血病（ALL）的临床特征及预后因素.
方法: 回顾性分析2011年4月至2020年12月福建省5家医院收治的1 414例初诊ALL患儿的临床资料。比较MLL-r+与MLL-r- ALL组患儿的临床特征及疗效，采用COX回归模型分析影响MLL-r ALL预后的因素.
结果: 在所有纳入的ALL患儿中，年龄＜1岁患儿占所有入组ALL的比例为1.8%，MLL-r+ 检出率为3.4%（48/1 414）；在＜1岁、≥1岁且≤14岁年龄组中，MLL-r检出率分别为38.5%（10/26）和2.7%（38/1 388），差异有统计学意义（P＝0.000）。与MLL-r- 组相比，MLL-r+ 组初诊年龄＜1岁、白细胞数（WBC）≥50×109/L、合并中枢神经系统白血病（CNSL）及睾丸白血病（TL）的患者比例更高，而诱导治疗后d 33或d 46微小残留病（MRD）＜0.01%的患者比例更低（P<0.05）。MLL-r+ 组预期10年无事件生存（EFS）率及总体生存（OS）率均显著低于 MLL-r-组（EFS： 49.9% vs 77.0%； OS: 55.3% vs 82.9%， P<0.05）。COX分析结果显示，初诊年龄＜1岁、诱导治疗后d 33或d 46 MRD≥0.01%为MLL-r+ ALL更差OS及EFS的独立危险因素（P<0.05）.
结论: MLL-r+ ALL患儿初诊年龄＜1岁、高WBC数、合并CNSL和TL更常见，且早期治疗反应较差，预后不良；初诊年龄＜1岁、诱导治疗后MRD阳性可能为预后不良的危险因素.
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