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Transforming growth factor J3 type II receptor (TGFpRII) mutation in gastric lymphoma without mutator phenotype
Authors:Kazuhiko Yasuml  Rong-Jun Guo  Hiroyuki Hanai  Hajime Arai  Eizo Kaneko  Hiroyuki Konno  Selichi Takenoshita  Koichi Hagiwara  Haruhiko Sugimura
Affiliation:The First Department of Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan;The First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan;The Second Department of Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan;Laboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, Maryland, United States of America
Abstract:
A new mutation in the serine-threonine klnase domain of the transforming growth factor β type II receptor (TGFpRII) was found in a case of diffuse, B cell non-Hodgkin's lymphoma of the stomach. A mfssense 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 klnase 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 TGFβRII alterations, and the biological sequelae of the change in the functional domain and the clinical characteristics of the patient in this study are intriguing.
Keywords:malignant lymphoma    maltoma    stomach    transforming growth factor β type II receptor
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