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Japanese Journal of Clinical Oncology Advance Access published online on December 6, 2005
Japanese Journal of Clinical Oncology, doi:10.1093/jjco/hyi197
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© 2005 Foundation for Promotion of Cancer Research
Received June 30, 2005
Accepted October 9, 2005

Case Report

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

Shunsuke Kondo 1, Umio Yamaguchi 2, Shinji Sakurai 3, Yoshisuke Ikezawa 4, Hirokazu Chuman 2, Ukihide Tateishi 5, Koh Furuta 6, and Tadashi Hasegawa 7 *

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

* To whom correspondence should be addressed.
Tadashi Hasegawa, E-mail: hasetada{at}sapmed.ac.jp


  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.

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