Department of Pathophysiology, School of Medicine, University of Athens, Athens, Greece.
Department of Physiology, School of Medicine, University of Athens, Athens, Greece.
Genes Immun. 2014 Jan;15(1):54-6. doi: 10.1038/gene.2013.54. Epub 2013 Oct 24.
Sjogren's syndrome (SS) is a chronic autoimmune disorder with the highest risk for lymphoma development among all autoimmune diseases. In order to evaluate whether the presence of the recently described MYD88 L265P mutation in patients with Waldenström's macroglobulinemia (WM) is contributory to SS-associated lymphomagenesis, a quantitative allele-specific PCR method was performed in peripheral blood derived from 90 SS patients as well as in minor salivary gland tissues derived from 12 primary SS patients with or without lymphoma. MYD88 L265P was not detected in either of the samples tested. Although the absence of the MyD88 L265P somatic mutation in our SS cohort does not exclude a common germline susceptibility gene in SS, it might suggest a distinct operating pathogenetic mechanism in SS-related lymphoma compared with WM and other hematological malignancies.
干燥综合征(SS)是一种慢性自身免疫性疾病,在所有自身免疫性疾病中,淋巴瘤的发病风险最高。为了评估最近描述的Waldenström 巨球蛋白血症(WM)患者中 MYD88 L265P 突变的存在是否有助于 SS 相关的淋巴瘤发生,我们对 90 例 SS 患者的外周血和 12 例原发性 SS 患者的唾液腺组织进行了定量等位基因特异性 PCR 检测,这些患者有或没有淋巴瘤。在检测的样本中均未检测到 MYD88 L265P。虽然我们的 SS 队列中没有 MyD88 L265P 体细胞突变,但并不能排除 SS 中存在常见的种系易感基因,这可能表明 SS 相关淋巴瘤与 WM 和其他血液系统恶性肿瘤相比,存在独特的发病机制。