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Japanese Journal of Clinical Oncology Advance Access originally published online on December 6, 2005
Japanese Journal of Clinical Oncology 2005 35(12):753-756; doi:10.1093/jjco/hyi197
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© 2005 Foundation for Promotion of Cancer Research

Case Report

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

Shunsuke Kondo1, Umio Yamaguchi2, Shinji Sakurai5, Yoshisuke Ikezawa6, Hirokazu Chuman2, Ukihide Tateishi4, Koh Furuta3 and Tadashi Hasegawa7

1 Division of Medical Oncology, 2 Division of Orthopedic Oncology, 3 Division of Clinical Laboratory, 4 Division of Diagnostic Radiology, National Cancer Center Hospital, Tokyo, 5 Department of Pathology, Gunma University Graduate School of Medicine, Maebashi, 6 Division of Orthopedic Surgery, Mito Saiseikai Hospital, Mito and 7 Department of Clinical Pathology, Sapporo Medical University School of Medicine, Sapporo, Japan

For reprints and all correspondence: Tadashi Hasegawa, Department of Clinical Pathology, Sapporo Medical University School of Medicine, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan. E-mail: hasetada{at}sapmed.ac.jp

Received June 30, 2005; accepted October 9, 2005

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.

Key Words: gastrointestinal stromal tumor (GIST) • Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) • KIT/c-kit • platelet-derived growth factor alpha (PDGFRA)


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