Cytogenetic Confirmation of a Gastrointestinal Stromal Tumor and Ewing Sarcoma/Primitive Neuroectodermal Tumor in a Single Patient

Shunsuke Kondo, Umio Yamaguchi, Shinji Sakurai, Yoshisuke Ikezawa, Hirokazu Chuman, Ukihide Tateishi, Koh Furuta, Tadashi Hasegawa
2005 Japanese Journal of Clinical Oncology  
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
more » ... is 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.
doi:10.1093/jjco/hyi197 pmid:16332719 fatcat:wt6eh5aj45b7xnhdjvpej3zgha