Objective: To investigate the clinical features and outcomes of infants (<1 year old) with acute lymphoblastic leukemia (IALL).
Methods: The clinical manifestations, laboratory examination results, treatment and prognosis of 18 infants diagnosed with ALL at our department between January 1, 2014 and August 31, 2022 were retrospectively analyzed.
Results: Among the 18 cases of IALL, there were 10 males and 8 females. The median age of patients was 6.5 months old (3 months-11 months old). The median white blood cell count (WBC) was 33.63×109/L ［(3.92-470)×109/L］ at initial diagnosis, including 2 patients with WBC≥300×109/L. Flow cytometric immunophenotyping showed a B-lineage infant ALL in all the 18 patients. Eight of the 18 children had abnormal chromosome karyotype analysis. Fusion gene detection showed 12 KMT2A-rearrangement of 18 patients. 15 patients underwent leukemia related mutation gene screening, among which KRAS, NRAS and FLT3 were the most common mutation genes. 4 patients underwent allogeneic hematopoietic stem cell transplantation and two survived. 14 patients received chemotherapy only and ten survived. The 3-year OS rate was (65.5±11.5)%, while the EFS rate was (46.9±12.3)%.
Conclusion: B-cell ALL and KMT2A rearrangement are prevalent in IALL. The therapeutic effect of IALL with standard childhood ALL protocal is similer to international infant specific protocal.
题目: 18例婴儿急性淋巴细胞白血病临床分析.
目的: 总结婴儿急性淋巴细胞白血病（IALL)的临床特征及生存结局.
方法: 回顾性分析2014年1月1日至2022年8月31日在武汉儿童医院确诊并治疗的18例IALL的临床资料，包括临床表现、实验室检查结果、治疗及预后.
结果: 18例IALL中男10例，女8例，中位月龄6.5（3-11）个月。初诊时WBC中位计数33.63（3.92-470）×109/L ，其中WBC≥300×109/L者2例。所有患儿进行流式免疫分型检测，均为B系ALL。18例患儿中8例染色体核型分析结果异常。12例检测KMT2A-r融合基因阳性。15例完成白血病相关突变基因筛查，其中最常见为KRAS、NRAS、FLT3。4例患儿行异基因造血干细胞移植，2例存活，14例未移植的患儿中10例存活。预估3年总生存率为（65.5±11.5）%，无事件生存率为（46.9±12.3）.
结论: IALL以B系为主，大多数可发现KMT2A-r。IALL接受国内常规儿童急淋方案化疗的生存率接近国际婴儿急淋协作组方案.
Keywords: acute lymphoblastic leukemia; hematopoietic stem cell transplantation; infant.