title: Absence of somatic MYD88 L265P mutations in patients with primary Sjogren's syndrome.
abstract: 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.
authors.affiliation: Department of Pathophysiology, School of Medicine, University of Athens, Athens, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Voulgarelis
authors.affiliation: Department of Physiology, School of Medicine, University of Athens, Athens, Greece.
authors.forename: C P
authors.initials: CP
authors.lastname: Mavragani
authors.affiliation: Bing Center for Waldenstrom's Macroglobulinemia, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
authors.forename: L
authors.initials: L
authors.lastname: Xu
authors.affiliation: Bing Center for Waldenstrom's Macroglobulinemia, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
authors.forename: S P
authors.initials: SP
authors.lastname: Treon
authors.affiliation: Department of Pathophysiology, School of Medicine, University of Athens, Athens, Greece.
authors.forename: H M
authors.initials: HM
authors.lastname: Moutsopoulos
mesh_terms: D006801:Humans; D008223:Lymphoma / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012469:Salivary Glands / Q000502:physiology; D012859:Sjogren's Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88