克隆识别和同质性将初级中枢神经系统淋巴瘤与非中枢神经系统淋巴细胞淋巴瘤区分开来:一个病例报告
Yuko Tanaka1, Nahoko Furuya2, Seiichi Okabe2
1Department of Hematology, Tokyo Medical University, 6-7-1, Nishi-Shinjuku, Shinjuku-Ku, Tokyo, Japan. yukois9@tokyo-med.ac.jp.
Journal of medical case reports
|November 22, 2025
概括
本案例研究表明,该患者的中枢神经系统原发性淋巴瘤起源于淋巴细胞淋巴瘤/沃尔登斯特罗姆巨型球蛋白血症,由MYD88基因突变和IGHV基因分析证实. 结合治疗方法可以改善这些相关淋巴瘤的结果.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 神经学 神经学
背景情况:
- 淋巴细胞性淋巴瘤/沃尔登斯特罗姆巨型球蛋白血症很少转化为扩散性大B细胞淋巴瘤.
- 转化为初级中枢神经系统淋巴瘤非常罕见,对中枢神经系统透机制的理解有限.
- 之前的病例缺乏初级中枢神经系统淋巴瘤和沃尔登斯特罗姆巨型球蛋白血症之间的克隆同一性的明确证据.
研究的目的:
- 为了研究中枢神经系统原发性淋巴瘤的克隆性起源和潜在的转化途径,在患有同时存在淋巴细胞淋巴瘤/沃尔登斯特罗姆巨型球蛋白血症的患者中.
- 分析两个淋巴瘤类型之间的关系的分子基础 (MYD88和IGHV基因).
- 评估同时发生的中枢神经系统原发性淋巴瘤和淋巴细胞性淋巴瘤/沃尔登斯特罗姆巨型球蛋白血症的治疗策略.
主要方法:
- 一个49岁的男性被诊断为初级中枢神经系统淋巴瘤和淋巴细胞性淋巴瘤的案例研究.
- 对于中枢神经系统病变的内镜活检和对于周围淋巴瘤的大腿节点活检.
- 用高剂量甲状腺素的免疫化疗,然后对淋巴细胞性淋巴瘤进行额外的治疗.
- 分子分析包括MYD88基因突变和免疫球蛋白重链V (IGHV) 基因测序.
主要成果:
- 患者出现中枢神经系统淋巴瘤,后来在下肢发展为淋巴细胞淋巴瘤.
- 原发性中枢神经系统淋巴瘤和淋巴细胞淋巴瘤都显示出相同的MYD88基因突变和共同的克隆起源 (IGHV基因同源性).
- 患者在适当的免疫化疗方案后实现了两种淋巴瘤的完全缓解.
结论:
- 淋巴细胞性淋巴瘤/Waldenström巨型球蛋白血症可以转化为主性中枢神经系统淋巴瘤,起源于一个常见的MYD88突变克隆.
- 这些发现表明,淋巴细胞淋巴瘤可能透到中枢神经系统 (Bing-Neel综合征),随后转化为初级中枢神经系统淋巴瘤.
- 对于低度和初级中枢神经系统淋巴瘤的联合治疗策略需要进一步研究潜在的协同效应.
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