title: A recurrent duodenal gastrointestinal stromal tumor with a frameshift mutation resulting in a stop codon in KIT exon 13.
abstract: Gastrointestinal stromal tumors (GISTs) are a specific and rare subset of human gastrointestinal tract tumors. Most GISTs show gain-of-function mutations of KIT, mainly in exon 11, that always maintain the reading frame. We report on data from a 43-year-old Japanese man with recurrent duodenal GIST and a frameshift mutation in KIT exon 13 together with an in-frame deletion in KIT exon 11 detected by genomic DNA sequencing. Deletion of 48 base pairs of KIT exon 11, which preserved the reading frame, was identified in both primary and recurrent tumors, whereas deletion of one nucleotide of codon 642 of KIT exon 13, which changed the reading frame and induced a novel stop codon at amino acid 644, was found only in the recurrent tumor. The predicted protein resulting from the latter would lack part of the kinase domain. To the best of our knowledge, this is the first documentation of a GIST with a frameshift mutation of KIT.
authors.affiliation: Division of Ultrafine Structure, Department of Pathology, Research Institute of International Medical Center of Japan, Tokyo, Japan.
authors.forename: Hoang Anh
authors.initials: HA
authors.lastname: Vu
authors.forename: Phan Thi
authors.initials: PT
authors.lastname: Xinh
authors.forename: Makoto
authors.initials: M
authors.lastname: Kikushima
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhu
authors.forename: Makoto
authors.initials: M
authors.lastname: Tokuhara
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Tani
authors.forename: Toshio
authors.initials: T
authors.lastname: Shimizu
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Saito
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
authors.forename: Yuko
authors.initials: Y
authors.lastname: Sato
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics*; D004379:Duodenal Neoplasms / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009364:Neoplasm Recurrence, Local / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D019009:Proto-Oncogene Proteins c-kit