European Journal of Gastroenterology & Hepatology
Case Reports
Peripheral primitive neuroectodermal tumor of the stomach in a 14-year-old boy
a case report
Czekalla, Ralpha; Fuchs, Martina; Stölzle, Angelab; Nerlich, Andreasb; Poremba, Christopherc; Schaefer, Karl-Ludwigc; Weirich, Gregord; Höfler, Heinzd; Schneller, Folkere; Peschel, Christiane; Siewert, Jörg Rüdigerf; Schepp, Wolfganga
aSecond Department of Medicine and bDepartment of Pathology, Bogenhausen Academic Teaching Hospital, Munich, Germany, cDepartment of Pathology, Heinrich-Heine-University, Düsseldorf, Germany, and dDepartment of Pathology, eThird Department of Medicine and fDepartment of Surgery, Technical University of Munich, Munich, Germany.
Address correspondence and requests for reprints to Wolfgang Schepp, MD, Professor of Medicine, Head, Second Department of Medicine, Bogenhausen Academic Teaching Hospital, Englschalkinger Strasse 77, 81925 Munich, Germany. Tel: +49 89 9270 2061; fax: +49 89 9270 2486; e-mail: [email protected]
Received 22 October 2003 Revised 18 December 2003 Accepted 5 May 2004
Abstract
Conclusion
Although PNETs are rare malignancies, they should be considered in the differential diagnosis of submucosal gastric tumours in adolescents with clinical alarm symptoms.NET was confirmed by detection of the characteristic EWS/FLI-1 fusion gene, resulting in a reciprocal translocation t(11;22)(q24;q12). Three distinct liver metastases were detected by CT, MRI, and PET. The tumour failed to respond to neoadjuvant polychemotherapy with vincristine, etoposide, doxorubicin, and ifosfamide. Subtotal gastrectomy was performed and, surprisingly, we found diffuse metastatic infiltration of the liver that had not been detected by preoperative staging. Due to the diffuse metastatic disease the young patient's prognosis has to be considered very poor. Because of the tumour's intense expression of CD117 (c-kit), the patient is now treated with the tyrosine kinase inhibitor imatinib (STI571).