title: Cytogenetic confirmation of a gastrointestinal stromal tumor and ewing sarcoma/primitive neuroectodermal tumor in a single patient.
abstract: We report a rare case in which two tumor entities, a gastrointestinal stromal tumor (GIST) and Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), with distinct cytogenetic features occurred in a single patient. The patient was a 72-year-old woman. The first tumor was a submucosal gastric tumor and was diagnosed as a low-risk group GIST based on morphological characteristics and the results of an immunohistochemical analysis for c-kit and CD34. Further cytogenetic analysis revealed that this tumor had a point mutation (D842V substitution) in exon 18 of the platelet-derived growth factor receptor alpha gene. The second tumor was found more than 4 years after the appearance of the first tumor. ES/PNET was highly suspected both morphologically and immunohistochemically, and the diagnosis was confirmed by the detection of an EWS rearrangement using a fluorescence in situ hybridization technique. Although the cytogenetic correlations of these two tumors are unclear, accurate histologic recognition is of clinical importance because the treatments for these two tumors differ.
authors.affiliation: Divison of Medical Oncology, National Cancer Center Hospital, Tokyo, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Kondo
authors.forename: Umio
authors.initials: U
authors.lastname: Yamaguchi
authors.forename: Shinji
authors.initials: S
authors.lastname: Sakurai
authors.forename: Yoshisuke
authors.initials: Y
authors.lastname: Ikezawa
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Chuman
authors.forename: Ukihide
authors.initials: U
authors.lastname: Tateishi
authors.forename: Koh
authors.initials: K
authors.lastname: Furuta
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D000368:Aged; D018952:Antigens, CD34 / Q000032:analysis; D020732:Cytogenetic Analysis; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009378:Neoplasms, Multiple Primary; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D034802:RNA-Binding Protein EWS / Q000235:genetics; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics; D012186:Retroperitoneal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012512:Sarcoma, Ewing / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013274:Stomach Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D018952:Antigens, CD34; D034802:RNA-Binding Protein EWS; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha