Pediatric Hematology, Oncology and BMT, University Hospital Münster, Münster, Germany.
Department of Medicine A, Hematology, Oncology, and Pneumology, University Hospital Münster, Münster, Germany.
Nat Commun. 2022 Jul 6;13(1):3881. doi: 10.1038/s41467-022-31355-8.
While survival has improved for Burkitt lymphoma patients, potential differences in outcome between pediatric and adult patients remain unclear. In both age groups, survival remains poor at relapse. Therefore, we conducted a comparative study in a large pediatric cohort, including 191 cases and 97 samples from adults. While TP53 and CCND3 mutation frequencies are not age related, samples from pediatric patients showed a higher frequency of mutations in ID3, DDX3X, ARID1A and SMARCA4, while several genes such as BCL2 and YY1AP1 are almost exclusively mutated in adult patients. An unbiased analysis reveals a transition of the mutational profile between 25 and 40 years of age. Survival analysis in the pediatric cohort confirms that TP53 mutations are significantly associated with higher incidence of relapse (25 ± 4% versus 6 ± 2%, p-value 0.0002). This identifies a promising molecular marker for relapse incidence in pediatric BL which will be used in future clinical trials.
尽管伯基特淋巴瘤患者的生存率有所提高，但儿童和成人患者之间的预后差异仍不清楚。在这两个年龄组中，复发后的生存率仍然很低。因此，我们在一个大型儿科队列中进行了一项比较研究，该队列包括 191 例儿童病例和 97 例成人样本。虽然 TP53 和 CCND3 突变频率与年龄无关，但来自儿科患者的样本显示 ID3、DDX3X、ARID1A 和 SMARCA4 的突变频率更高，而 BCL2 和 YY1AP1 等几个基因几乎仅在成年患者中发生突变。一项无偏分析揭示了 25 至 40 岁之间突变谱的转变。儿科队列的生存分析证实，TP53 突变与更高的复发发生率显著相关（25±4%对 6±2%，p 值<0.0002）。这为儿科 BL 中复发发生率确定了一个有前途的分子标志物，该标志物将用于未来的临床试验。
