A subset of patients with rheumatoid arthritis receiving methotrexate develop immune deficiencies and dysregulation-associated lymphoproliferative disorders. Patients with these disorders often exhibit spontaneous regression after MTX withdrawal; however, chemotherapeutic intervention is frequently required in patients with classic Hodgkin lymphoma arising in immune deficiency/dysregulation. In this study, we examined PD-L1 expression levels and 9p24.1 copy number alterations in 27 patients with classic Hodgkin lymphoma arising from immune deficiency/dysregulation. All patients demonstrated PD-L1 protein expression and harbored 9p24.1 copy number alterations on the tumor cells. When comparing clinicopathological data and associations with 9p24.1 copy number features, the copy gain group showed a significantly higher incidence of extranodal lesions and clinical stages than the amplification group. Notably, all cases in the amplification group had latency type II, while 6/8 (75%) in the copy gain group had latency type II, and 2/8 (25%) had latency type I. Thus, a subset of the copy-gain group demonstrated more extensive extranodal lesions and higher clinical stages. This finding speculates the presence of a genetically distinct subgroup within the group of patients who develop immune deficiencies and dysregulation-associated lymphoproliferative disorders, which may explain certain characteristic features.
接受甲氨蝶呤治疗的部分类风湿关节炎患者会出现免疫缺陷及免疫失调相关的淋巴组织增生性疾病。此类疾病患者通常在停用甲氨蝶呤后出现自发消退现象，但在免疫缺陷/失调背景下发生的经典型霍奇金淋巴瘤患者中，化疗干预往往成为必要治疗手段。本研究检测了27例免疫缺陷/失调相关经典型霍奇金淋巴瘤患者的PD-L1表达水平及9p24.1拷贝数变异情况。所有患者肿瘤细胞均呈现PD-L1蛋白表达，并携带9p24.1拷贝数变异。通过对比临床病理数据与9p24.1拷贝数特征的关联性，发现拷贝数增益组较扩增组具有显著更高的结外病灶发生率及临床分期。值得注意的是，扩增组所有病例均为潜伏期II型，而拷贝数增益组中6/8例（75%）为潜伏期II型，2/8例（25%）为潜伏期I型。由此可见，拷贝数增益组中存在部分病例表现出更广泛的结外病灶及更高临床分期的特征。这一发现提示在发生免疫缺陷及免疫失调相关淋巴组织增生性疾病的患者群体中，可能存在遗传特征不同的亚组，这或许能解释某些特定的临床病理特征。
肿瘤(癌症)患者之家