Suzuki Tomotaka, Fujii Keiichiro, Matsunaga Naohiro, Sasaki Hirokazu, Kanamori Takashi, Asano Arisa, Kinoshita Shiori, Narita Tomoko, Masaki Ayako, Sanda Takaomi, Ri Masaki, Kusumoto Shigeru, Komatsu Hirokazu, Iida Shinsuke, Inagaki Hiroshi
Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Department of Pathology and Molecular Diagnosis, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Br J Haematol. 2025 Jul;207(1):92-100. doi: 10.1111/bjh.20099. Epub 2025 Apr 22.
This study examined the effect of myeloid differentiation primary response gene 88 mutation L265P (MYD88) and/or cluster of differentiation 79B gene mutation Y196 (CD79B) (MYD88/CD79B) on central nervous system (CNS) relapse in 270 patients with newly diagnosed diffuse large B-cell lymphoma (DLBCL). Over a median follow-up of 6.65 years, 20 patients experienced CNS relapse. Fifty-five (20%) patients had MYD88/CD79B mutations, and these mutations were significantly associated with an increased risk of CNS relapse in univariable analysis. The overall median time to CNS relapse was 11.5 months, with relapses continuing beyond 2 years in patients harbouring MYD88/CD79B mutations. These patients had 2- and 6-year cumulative CNS relapse rates of 10.9% and 18.1% respectively. Among patients classified as having low or intermediate risk according to the CNS-International Prognostic Index (CNS-IPI), those with MYD88/CD79B mutations exhibited higher CNS relapse rates than those without these mutations (18.8% vs. 1.2%). In contrast, patients with high risk showed high CNS relapse, regardless of the mutation status, suggesting heterogeneous mechanisms underlying CNS relapse. In conclusion, the results of this study suggest that MYD88/CD79B mutations may serve as a predictive marker for CNS relapse in DLBCL, although further validation in additional cohorts is warranted.
本研究检测了270例新诊断的弥漫性大B细胞淋巴瘤（DLBCL）患者中髓样分化初级反应基因88突变L265P（MYD88）和/或分化簇79B基因突变Y196（CD79B）（MYD88/CD79B）对中枢神经系统（CNS）复发的影响。在中位随访6.65年期间，20例患者发生CNS复发。55例（20%）患者存在MYD88/CD79B突变，在单因素分析中，这些突变与CNS复发风险增加显著相关。CNS复发的总体中位时间为11.5个月，携带MYD88/CD79B突变的患者在2年以上仍有复发。这些患者2年和6年的CNS累积复发率分别为10.9%和18.1%。根据CNS国际预后指数（CNS-IPI）分类为低风险或中风险的患者中，携带MYD88/CD79B突变的患者CNS复发率高于未携带这些突变的患者（18.8%对1.2%）。相比之下，高风险患者无论突变状态如何均显示出高CNS复发率，提示CNS复发存在异质性机制。总之，本研究结果表明，MYD88/CD79B突变可能作为DLBCL中CNS复发的预测标志物，尽管需要在更多队列中进行进一步验证。
