Lyu Li-Yang, Nie Yu-Ling, Renaguli Abulaiti, Qi Xiao-Long, Muhebaier Abuduer, Zhai Shun-Sheng, An Li, Mao Min, Li Yan
Department of Hematology, The People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001， Xinjiang Uygur Autonomous Region, China.
Department of Hematology, The People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001， Xinjiang Uygur Autonomous Region, China .E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2023 Apr;31(2):403-410. doi: 10.19746/j.cnki.issn.1009-2137.2023.02.014.
To investigate the mutational spectrum in young patients with diffuse large B-cell lymphoma (DLBCL) based on next generation sequencing (NGS), and to provide a basis for in-depth understanding of the molecular biological characteristics and accurate prognosis of young DLBCL.
From March 2009 to March 2021, 68 young DLBCL patients with complete initial diagnosis data from the Department of Hematology, The People's Hospital Xinjiang Uygur Autonomous Region were retrospectively analyzed, and their paraffin-embedded tissues were subjected to targeted sequencing analysis by NGS technology (including 475 Target genes), and the differences in gene mutation profiles and signaling pathways between high-risk patients with aaIPI ≥2 and low-intermediate risk patients with aaIPI <2 were compared.
A total of 44 high-frequency mutation genes were detected in 68 young DLBCL patients. By comparing the high-frequency mutation genes in aaIPI high-risk group and low-intermediate risk group, it was found that mutation in aaIPI high-risk group was significantly higher than that in low-intermediate risk group ( =0.002), while mutation ( =0.037) only appeared in the aaIPI high-risk group, and mutation ( =0.004) only appeared in the aaIPI low-intermediate risk group. The high-frequency mutation genes and clinical indicators of the aaIPI high-risk group were included in the survival analysis, and the results showed that ( =0.009, =0.027), ( =0.003, =0.006) and ( =0.040, =0.014) genes mutations were associated with worse PFS and OS, while was associated with better PFS ( =0.014) and OS ( =0.013). Multivariate COX regression analysis showed that the , and were independent risk factors for PFS（ ＝0.021， =0.005， =0.020） and OS（ ＝0.042， =0.010， =0.013）.
The aaIPI staging combination with molecular biology markers is more conducive to accurately judging the prognosis of young DLBCL patients. , and mutations predict worse survival in the patients with the aaIPI high-risk group.
基于二代测序（NGS）技术探究年轻弥漫性大B细胞淋巴瘤（DLBCL）患者的突变谱，为深入了解年轻DLBCL的分子生物学特征及准确判断预后提供依据。
回顾性分析2009年3月至2021年3月新疆维吾尔自治区人民医院血液科68例具有完整初诊资料的年轻DLBCL患者，应用NGS技术（包括475个靶向基因）对其石蜡包埋组织进行靶向测序分析，比较aaIPI≥2的高危患者与aaIPI＜2的低中危患者基因突变谱及信号通路的差异。
68例年轻DLBCL患者共检测到44个高频突变基因。通过比较aaIPI高危组与低中危组的高频突变基因，发现aaIPI高危组的 突变显著高于低中危组（ =0.002），而 突变（ =0.037）仅出现在aaIPI高危组， 突变（ =0.004）仅出现在aaIPI低中危组。将aaIPI高危组的高频突变基因及临床指标纳入生存分析，结果显示 （ =0.009， =0.027）、 （ =0.003， =0.006）和 （ =0.040， =0.014）基因的突变与较差的无进展生存期（PFS）和总生存期（OS）相关，而 与较好的PFS（ =0.014）和OS（ =0.013）相关。多因素COX回归分析显示， 、 和 是PFS（ ＝0.021， =0.005， =0.020）和OS（ ＝0.042， =0.010， =0.013）的独立危险因素。
aaIPI分期联合分子生物学标志物更有利于准确判断年轻DLBCL患者的预后。 、 和 突变提示aaIPI高危组患者预后较差。
