Monatsschrift Kinderheilkunde

, Volume 160, Issue 10, pp 967–974

Gastrointestinale Stromatumoren im Kindes- und Jugendalter

  • M. Benesch
  • E. Wardelmann
  • I. Leuschner
  • E. Koscielniak
Leitthema

Zusammenfassung

Gastrointestinale Stromatumoren (GIST) sind bei Kindern und Jugendlichen sehr selten und unterscheiden sich klinisch und biologisch von GIST des Erwachsenenalters. So können die charakteristischen, molekularen Veränderungen [Mutationen in den Rezeptortyrosinkinasegenen KIT und PDGFRA („platelet-derived growth factor receptor alpha“)], die eine zielgerichtete Behandlung dieser chemo- und strahlenresistenten Tumoren mit Rezeptortyrosinkinaseinhibitoren erlauben, bei Kindern und Jugendlichen mit GIST nur sehr selten nachgewiesen werden. Wegen der extremen Seltenheit fehlen standardisierte Richtlinien zum diagnostisch-therapeutischen Vorgehen. Die flächendeckende Registrierung dieser Tumoren im Register für Weichteilsarkome und seltene Weichteiltumoren (SoTiSaR) ist eine Voraussetzung, um Epidemiologie und Tumorbiologie besser verstehen zu können und dient als Grundlage für die zukünftige Entwicklung von Managementrichtlinien.

Schlüsselwörter

Gastrointestinale Stromatumoren Kinder Jugendliche Carney-Triade Carney-Stratakis-Syndrom 

Gastrointestinal stromal tumors in childhood and adolescence

Abstract

Gastrointestinal stromal tumors (GISTs) are extremely rare among children and differ clinically and biologically from adult GISTs. The characteristic molecular genetic alterations of these neoplasms, i.e. oncogenic mutations of the receptor tyrosine kinase genes KIT and platelet-derived growth factor receptor alpha (PDGFRA) making them amenable to targeted therapy by receptor tyrosine kinase inhibitors, are uncommon in pediatric GISTs. Standards for the management of GISTs in children and adolescents do not presently exist. The nationwide registration of these patients within the soft tissue sarcoma register of the Cooperative Weichteilsarkom Studiengruppe (SoTiSaR) is a prerequisite to increase the knowledge about these rare tumors and to develop appropriate management strategies.

Keywords

Gastrointestinal stromal tumors  Children Adolescents Carney triad Carney-Stratakis syndrome 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • M. Benesch
    • 1
  • E. Wardelmann
    • 2
  • I. Leuschner
    • 3
  • E. Koscielniak
    • 4
  1. 1.Klinische Abteilung für pädiatrische Hämato-/Onkologie, Universitätsklinik für Kinder- und JugendheilkundeMedizinische Universität GrazGrazÖsterreich
  2. 2.Institut für PathologieUniversitätsklinikum BonnBonnDeutschland
  3. 3.Zentrales KindertumorregisterUniversitätsklinikum Schleswig-Holstein, Campus KielKielDeutschland
  4. 4.Pädiatrie 5Olgahospital, Klinikum StuttgartStuttgartDeutschland

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