Objective: To investigate the clinical features, gene mutation profile, efficacy and prognostic factors of primary extranodal diffuse large B-cell lymphoma(EN-DLBCL).
Methods: A retrospective analysis was performed for 382 patients with primary EN-DLBCL with complete clinical data who were treated in West China Hospital from January 2013 to January 2023, and their clinical characteristics,gene mutation profile, efficacy and prognostic factors were analyzed.
Results: The median age of the 382 patients with EN-DLBCL was 56(18-89) years old. The male-to-female ratio was 1.12∶1, and the most common primary sites were gastrointestinal tract (31.7%), Wechsler ring (19.1%) and breast gland (7.1%). A total of 51 gene mutations were fund, and the most common frequencies of gene mutations were TP53 (32.5%), MYD88 (32.5%), and CD79B (30.0%). The median follow-up was 63 months, and the 5-year progression-free survival (PFS) rate was 74.5% and the 5-year overall survival (OS) rate was 89.6%. The adverse factors on PFS were as follows: >1 extranodal sites involvement ( P <0.001), P53≥50% ( P <0.001), hyper double expression(hDEL) of C-myc >50%/Bcl-2>70% ( P <0.001). The adverse factors affecting the OS of patients were as follows: >1 extranodal sites involvement ( P <0.001), P53≥50% (P < 0.001), hDEL( P <0.001). Chemotherapy combined with local radiotherapy could improve PFS (P =0.041) and OS (P =0.003), while R-CHOP+X (molecule agents as BTKi、HDACi、Lenalidomide) failed to show a significant difference in PFS (P =0.075) and OS (P =0.767). Among the 40 patients who underwent next-generation sequencing at high risk, there was no significant in PFS (P =0.849) and OS (P =0.500) of patients with positive MYD88 and/or CD79B mutations (MCD subtype) treated with BTKi and patients with negative MYD88 and CD79B mutations.
Conclusion: Primary EN-DLBCL can involve multiple organs or tissue sites. TP53 , MYD88 , and CD79B are the most common gene mutations. The efficacy of BTKi in patients with positive MCD subtypes at intermediate and high risk is not inferior to that in MCD-negative control patients.
题目: 原发结外弥漫大B细胞淋巴瘤患者临床特征及预后分析.
目的: 探讨原发结外弥漫大B细胞淋巴瘤（EN-DLBCL）的临床特征、基因突变谱特点、疗效及预后影响因素。.
方法: 回顾性分析2013年1月至2023年1月在华西医院就诊且具有完整临床资料的382例原发结外弥漫大B细胞淋巴瘤患者，分析其临床特征、基因突变谱特点、疗效及预后因素。.
结果: 382例EN-DLBCL患者的中位年龄为56（18-89）岁。男女比例为1.12∶1，常见原发部位为胃肠道（31.7％）、韦氏环（19.1％）及乳腺（7.1％）。基因突变共累及51种，最常见的基因突变类型为TP53 （32.5％）、MYD88 （32.5％）、CD79B （30.0％）。中位随访时间为63个月，5年无进展生存（PFS）率为74.5％，5年总生存（OS）率为89.6％。影响患者PFS的不良因素有：>1个结外部位受累（ P <0.001）、P53≥50％（ P <0.001）、C-myc>50％/Bcl-2>70％的高双表达（hDEL）（ P <0.001）；影响患者OS的不良因素有：>1个结外部位受累（ P <0.001）、P53≥50％（ P <0.001）、高双表达（hDEL）（ P <0.001）。化疗联合局部放疗有助于改善患者PFS（P =0.041）和OS（P =0.003）；R-CHOP+X小分子靶向药物治疗未能显示PFS（P =0.075）及OS（P =0.767）获益。 在40例中高危行二代测序患者中，MYD88和/或CD79B突变阳性（MCD亚型）患者均联合BTKi治疗与MYD88及CD79B突变均阴性患者在PFS（P =0.849）与OS（P =0.500）上差异无统计学意义。.
结论: EN-DLBCL可累及全身多处结外器官或组织，TP53、MYD88及CD79B是EN-DLBCL最常见的基因突变类型。中高危MCD亚型阳性的患者采用BTKi的疗效不劣于MCD阴性的对照组患者。.
Keywords: primary extranodal diffuse large B-cell lymphoma; clinical features; genetic mutations; prognosis.