Skip to main content
main-content

Tipp

Weitere Artikel dieser Ausgabe durch Wischen aufrufen

04.05.2021 | case report

Unique gastrointestinal stromal tumor with PDGFRA D842Y mutation—evaluation of in vivo sensitivity to imatinib

Zeitschrift:
memo - Magazine of European Medical Oncology
Autoren:
Olga Kuczkiewicz-Siemion, Agnieszka Dansonka-Mieszkowska, Piotr Rutkowski, Anna Klimczak, Andrzej Tysarowski, Monika Prochorec-Sobieszek, Anna Szumera-Ciećkiewicz
Wichtige Hinweise

Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.
The authors Olga Kuczkiewicz-Siemion and Anna Szumera-Ciećkiewicz contributed equally to the manuscript.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Summary

Most gastrointestinal stromal tumors (GISTs) are associated with molecular changes in two genes, KIT and platelet-derived growth factor receptor‑α (PDGFRA). However, only 5–10% of GISTs harbor PDGFRA mutation. Most tumors carry substitution affecting codon D842 in exon 18, which entails imatinib resistance. The other substitutions in this codon are extremely rare mutations (only 13 reported cases) involving D842Y substitution. This report presents a case of gastric GIST infiltrating liver segment III in a 70-year-old man. The tumor was studied histologically, immunohistochemically, and genetically. Mutational analysis revealed PDGFRA exon 18 mutation—p.(D842Y), c.2524G > T. Diagnosis of GIST with a high risk of progression was made. Due to subsequent liver metastases, imatinib therapy was commenced, which resulted in a minor disease response at a higher dose of imatinib. Our case is a unique, comprehensive report of in vivo PDGFRA D842Y-mutated GIST partial sensitivity to imatinib.

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Sie möchten Zugang zu diesem Inhalt erhalten? Dann informieren Sie sich jetzt über unsere Produkte:

Abo für kostenpflichtige Inhalte

Literatur
Über diesen Artikel