Cytogenetic confirmation of a gastrointestinal stromal tumor and ewing sarcoma/primitive neuroectodermal tumor in a single patient.
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.
Kondo
Shunsuke
S
Divison of Medical Oncology, National Cancer Center Hospital, Tokyo, Japan.
Yamaguchi
Umio
U
Sakurai
Shinji
S
Ikezawa
Yoshisuke
Y
Chuman
Hirokazu
H
Tateishi
Ukihide
U
Furuta
Koh
K
Hasegawa
Tadashi
T
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
D018952:Antigens, CD34; D034802:RNA-Binding Protein EWS; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha