title: Transforming growth factor beta type II receptor (TGF beta RII) mutation in gastric lymphoma without mutator phenotype.
abstract: A new mutation in the serine-threonine kinase domain of the transforming growth factor beta type II receptor (TGF beta RII) was found in a case of diffuse, B cell non-Hodgkin's lymphoma of the stomach. A missense mutation (ACA to GCA, Thr to Ala) was detected in exon 5, and a wild type allele was also present. This is the first naturally occurring mutation in the kinase domain of this gene identified in human primary lymphoma. The replication error at three loci was negative, and the poly A tract of exon 3, which is frequently a target of mismatch repair genes, was intact. Malignant lymphoma of B cell origin in the stomach is an addition to an expanding catalogue of tumors with TGF beta RII alterations, and the biological sequelae of the change in the functional domain and the clinical characteristics of the patient in this study are intriguing.
authors.affiliation: First Department of Pathology, Hamamatsu University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yasumi
authors.forename: R J
authors.initials: RJ
authors.lastname: Guo
authors.forename: H
authors.initials: H
authors.lastname: Hanai
authors.forename: H
authors.initials: H
authors.lastname: Arai
authors.forename: E
authors.initials: E
authors.lastname: Kaneko
authors.forename: H
authors.initials: H
authors.lastname: Konno
authors.forename: S
authors.initials: S
authors.lastname: Takenoshita
authors.forename: K
authors.initials: K
authors.lastname: Hagiwara
authors.forename: H
authors.initials: H
authors.lastname: Sugimura
mesh_terms: D000368:Aged; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000032:analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008228:Lymphoma, Non-Hodgkin / Q000737:chemistry / Q000235:genetics*; D018895:Microsatellite Repeats; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013274:Stomach Neoplasms / Q000737:chemistry / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II