| 于慧,薄毅文,孙剑声,等.血浆循环肿瘤 DNA与弥漫大 B细胞淋巴瘤临床预后的相关性分析[J].安徽医药,2025,29(3):536-540. |
| 血浆循环肿瘤 DNA与弥漫大 B细胞淋巴瘤临床预后的相关性分析 |
| Correlation between plasma circulating tumor DNA and clinical prognostic characteristics in diffuse large B-cell lymphoma |
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| DOI：10.3969/j.issn.1009-6469.2025.03.020 |
| 中文关键词: 淋巴瘤，大 B细胞，弥漫性 循环肿瘤 DNA 基因突变 预后 高通量核苷酸序列分析 |
| 英文关键词: Lymphoma, large B-cell, diffuse Circulating tumor DNA Gene mutation Prognosis High-throughput nucleotide sequencing |
| 基金项目:国家中医药管理局第四批全国中医优秀人才研修项目(国中医药办人教函〔 2017〕24号)；江苏省中医药管理局课题项目( YB2017014)；江苏省卫生健康委重点项目( ZD2021040) |
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| 中文摘要: |
| 目的探讨血浆循环肿瘤 DNA(ctDNA)在弥漫大 B细胞淋巴瘤( DLBCL)中的表达模式及其与临床预后的相关性，以评估其作为预后生物标志物的潜力。方法回顾性分析 2022年 6月至 2024年 1月在南京中医药大学附属医院(江苏省中医院)血液科住院的 31例 DLBCL病人，利用高通量测序技术( NGS)对血浆 ctDNA以及病理组织进行基因突变谱分析。对比分析初诊病人 ctDNA突变谱与临床特征、治疗反应及预后之间的关系。对复发难治 DLBCL(R/R DLBCL)与初治 DLBCL(TN DLBCL)高频突变基因亦进行了初步分析。结果 TN DLBCL最常见的突变基因为 BTG2(47.8%)BTG1(43.5%)， PIM1(39.1%)， CARD11(34.8%)B2M(30.4%)BCL6(30.4%)和 DUSP2(30.4%)。 23例 TN DLBCL病人中， 16例，进行基线 ctDNA检测，国际预后指数(IPI)评分高、，分期晚、美国，东部肿瘤协作组( ECOG)评分高、乳酸脱氢酶( LDH)值高( P=0.020)、 β2微球蛋白( B2M)值高(P=0.002)的病人，基线 ctDNA水平呈现更高的趋势， 16例血浆中多检出 154个组织中没有的突变，可以作为组织样本的有效补充，其中有 2例组织分型为 other的病人，通过基线血浆 ctDNA检测可重新分型为 MCD亚型。 R/R DLBCL总体突变频率不同于 TN DLBCL病人。结论 ctDNA可作为 DLBCL病人临床预后评估的有用生物标志物。未来研究需进一步验证 ctDNA在 DLBCL预后评估中的临床应用价值。 |
| 英文摘要: |
| Objective To explore the expression patterns of circulating tumor DNA (ctDNA) in diffuse large B-cell lymphoma (DLB-CL) and their correlation with clinical prognostic features, to assess its potential as a prognostic biomarker.Methods A retrospectiveanalysis was conducted on 31 patients with DLBCL hospitalized in the Department of Hematology at the Affiliated Hospital of NanjingUniversity of Chinese Medicine (Jiangsu Provincial Hospital of Chinese Medicine) from June 2022 to January 2024. High-throughputsequencing technology next generation sequencing (NGS) was used to analyze the gene mutation spectrum of plasma ctDNA and patho-logical tissues. The relationship between the ctDNA mutation spectrum at initial diagnosis and clinical characteristics, treatment re-sponse, and prognosis was compared and analyzed. A preliminary analysis of the high-frequency mutation genes in relapsed/refractory DLBCL (R/R DLBCL) and treatment-naive DLBCL (TN DLBCL) was also performed.Results The most common mutated genes in TNDLBCL were BTG2 (47.8%), BTG1 (43.5%), PIM1 (39.1%), CARD11 (34.8%), B2M (30.4%), BCL6 (30.4%), and DUSP2 (30.4%).Among the 23 TN DLBCL patients, 16 underwent baseline ctDNA testing. Patients with high international prognostic index (IPI) scores,advanced staging, high ECOG scores, high LDH values (P=0.020), and high B2M values (P=0.002) tended to have higher baseline ctD‐NA levels. In 16 plasma samples, 154 mutations not found in tissues were detected, which could effectively complement tissue samples.Among them, two cases with tissue typing as 'other' were reclassified as MCD subtype through baseline plasma ctDNA testing. Theoverall mutation frequency in R/R DLBCL was different from that in TN DLBCL patients.Conclusions ctDNA can serve as a useful biomarker for the clinical prognostic assessment of patients with DLBCL. Further studies are needed to validate the clinical application value of ctDNA in the prognostic assessment of DLBCL. |
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