Mijiti Mutibaier, Wang Chun, Tian Wenxin, Shi Qiping, Zhang Fang, Abulaiti Renaguli, Qi Xiaolong, Kou Zhen, Liu Cuicui, Wang Zengsheng, Zhai Shunsheng, An Li, Huang Qin, Shao Yang, Wufuer Guzailinuer, Li Yan
Department of Hematology, People's Hospital of Xinjiang Uygur Autonomous Region, No. 91, Tianchi Road, Urumqi, 830011, Xinjiang Uygur Autonomous Region, China.
Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, Jiangsu, China.
Ann Hematol. 2024 Dec;103(12):5627-5638. doi: 10.1007/s00277-024-05961-z. Epub 2024 Aug 27.
Diffuse large B-cell lymphoma (DLBCL) demonstrates significant heterogeneity, investigations into the distinctions in clinical and molecular characteristics between Chinese Uygur and Han DLBCL patients remain unexplored. We retrospectively reviewed 279 DLBCL patients (105 Uygur and 174 Han patients), of which 155 patients underwent genetic profiling by NGS. Compared with Han patient, Uygur patients have better clinical prognostic indicators, including a higher proportion of patients with 0-1 extranodal involvement and I/II Ann Arbor staging. Consistently, Uygur patients were significantly associated with lower risk of relapse (P = 0.06), with a one-year relapse rate of 5% vs 17% and two-year relapse rate of 19% vs 36% compared to Han patients. At the molecular level, TP53 (21.3%) was among the top frequently altered gene in the cohort. Notably, the Uygur patients exhibited a significantly lower frequency of TP53 alterations and higher frequency of ASXL3 alterations. Logistic regression analysis showed that the lowered frequency of TP53 and enrichment of ASXL3 in the Uygur patients were independent of other factors. However, only patients with TP53 mutations had higher relapse rate than those with wild type TP53 (one-year, 20% vs 10%; two-year, 51% vs 21%). Our findings highlight the notable contribution of a low TP53 mutation frequency in Uygur patients as a pivotal factor associated with the favorable prognosis of this population.
弥漫性大B细胞淋巴瘤（DLBCL）具有显著的异质性，然而，中国维吾尔族和汉族DLBCL患者在临床和分子特征方面的差异尚未得到研究。我们回顾性分析了279例DLBCL患者（105例维吾尔族和174例汉族患者），其中155例患者通过二代测序（NGS）进行了基因谱分析。与汉族患者相比，维吾尔族患者具有更好的临床预后指标，包括0-1个结外受累患者的比例更高以及Ann Arbor分期为I/II期。同样，维吾尔族患者的复发风险显著较低（P = 0.06），与汉族患者相比，一年复发率为5% vs 17%，两年复发率为19% vs 36%。在分子水平上，TP53（21.3%）是该队列中最常发生改变的基因之一。值得注意的是，维吾尔族患者中TP53改变的频率显著较低，而ASXL3改变的频率较高。逻辑回归分析表明，维吾尔族患者中TP53频率降低和ASXL3富集与其他因素无关。然而，只有TP53突变的患者比野生型TP53患者具有更高的复发率（一年，20% vs 10%；两年，51% vs 21%）。我们的研究结果突出了维吾尔族患者中低TP53突变频率作为该人群预后良好的关键因素的显著贡献。
