Platelet Derived Growth Factor Receptor- Alpha D842v Mutation in a Spindle Cell Type Gastrointestinal Stromal Tumor: A Case Report

Jenissa Amor Arceño, Kathleen Chua, Loraine Kay Cabral, Arlie Jean Grace Dumasis, Jose Jasper Andal, Raymundo Lo, Glenda Lyn Pua, Daphne Ang

Abstract

Molecular genotyping of gastrointestinal stromal tumors is not yet available in the Philippines. We report a case of a 75-year old male with a gastric submucosal mass, who underwent gastroscopic/laparoscopic wedge resection. Histopathology and subsequent immunohistochemical staining with CD117 (CKIT) and DOG1 revealed diagnosis of gastrointestinal stromal tumor, spindle cell variant. On genotyping, the tumor harbored PDGFRA D842V mutation, a subtype resistant to Imatinib treatment. 

Keywords

gastrointestinal stromal tumor (GIST), platelet derived growth factor receptor-alpha (PDGFRA)

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References

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