Huang Shi-Mei, Chen Hui-Qin, Liu Li-Ting, Zhang Ya-Ting, Wang Jian, Zhou Dun-Hua, Fang Jian-Pei, Xu Lu-Hong
Children's Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.
Department of Pediatrics, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China.
Hematology. 2025 Dec;30(1):2439606. doi: 10.1080/16078454.2024.2439606. Epub 2024 Dec 15.
In this retrospective case-control study involving 424 pediatric patients diagnosed with Pediatric Acute Lymphoblastic Leukemia (ALL), the investigation focused on analyzing the clinical characteristics and prognosis associated with the Cyclin-dependent kinase inhibitor 2A/2B () gene. Treatment and evaluation followed the South China Children's Leukemia Group-ALL-2016 protocol (SCCLG-ALL-2016). Among the cohort, 92 patients (21.7%) exhibited gene deletions, with 11.1% homozygous and 10.6% heterozygous deletions. Notably, ALL patients that do have gene deletions tended to present at an older age (= 0.001), demonstrate hepatosplenomegaly on palpation (< 0.001), and exhibit a higher incidence of Central nervous system leukemia (CNSL) (= 0.037) and T-ALL (= 0.007). A significant correlation was observed between ALL that does have gene deletions and (8.7% vs. 19.3%, = 0.017) and gene deletions (20.7% vs. 8.4%, = 0.001). Survival analysis of 392 patients revealed no significant differences in 5-year relapse, Overall survival (OS), or Event-free survival (EFS) between ALL that does/ does not have gene deletions. Subgroup analysis highlighted poorer prognosis among hepatosplenomegaly patients in the gene deletion group, with a 5-year EFS of 81.8%, 95%CI (0.695-0.963), = 0.05. Hepatosplenomegaly emerged as the most significant prognostic factor for EFS [HR = 2.306, 95%CI (1.192-4.461), = 0.013]. Cox regression analyses identified covariates influencing prognosis, ALL with the gene showing no significant impact on outcomes. In conclusion, while ALL that does have gene deletions is associated with certain clinical characteristics and genetic aberrations, they did not significantly impact OS or EFS. Furthermore, subgroup analysis revealed a potential prognostic role of ALL that does have deletions presenting with hepatosplenomegaly on palpation, emphasizing the importance of comprehensive risk stratification in treatment decision-making for this subgroup.
在这项涉及424例诊断为小儿急性淋巴细胞白血病（ALL）的儿科患者的回顾性病例对照研究中，调查重点是分析细胞周期蛋白依赖性激酶抑制剂2A/2B（）基因相关的临床特征和预后。治疗和评估遵循华南儿童白血病协作组-ALL-2016方案（SCCLG-ALL-2016）。在该队列中，92例患者（21.7%）存在基因缺失，其中纯合缺失占11.1%，杂合缺失占10.6%。值得注意的是，确实存在基因缺失的ALL患者往往发病年龄较大（=0.001），触诊时出现肝脾肿大（<0.001），并且中枢神经系统白血病（CNSL）（=0.037）和T-ALL（=0.007）的发病率较高。观察到确实存在基因缺失的ALL与（8.7%对19.3%，=0.017）和基因缺失（20.7%对8.4%，=0.001）之间存在显著相关性。对392例患者的生存分析显示，存在/不存在基因缺失的ALL在5年复发率、总生存期（OS）或无事件生存期（EFS）方面无显著差异。亚组分析突出了基因缺失组中肝脾肿大患者预后较差，5年EFS为81.8%，95%CI（0.695 - 0.963），=0.05。肝脾肿大成为EFS最显著的预后因素[HR = 2.306，95%CI（1.192 - 4.461），=0.013]。Cox回归分析确定了影响预后的协变量，存在基因的ALL对结局无显著影响。总之，虽然确实存在基因缺失的ALL与某些临床特征和基因畸变相关，但它们对OS或EFS没有显著影响。此外，亚组分析揭示了触诊时有肝脾肿大的确实存在基因缺失的ALL可能具有的预后作用，强调了在该亚组治疗决策中进行全面风险分层的重要性。
