| Theme | GIST : Current Progress on Diagnosis and Treatment | |
|---|---|---|
| Title | Mutations of Tyrosine Kinase Receptor Genes and Significance in Clinical Practice for Gastrointestinal Stromal Tumors (GISTs) | |
| Publish Date | 2010/06 | |
| Author | Koji Isozaki | Department of Surgical Pathology, Hyogo College of Medicine |
| Author | Mayumi Nakai | Department of Surgical Pathology, Hyogo College of Medicine |
| Author | Seiichi Hirota | Department of Surgical Pathology, Hyogo College of Medicine |
| [ Summary ] | Approximately 85 to 90% of gastrointestinal stromal tumors (GISTs) have gain-of-function mutations in the c-kit gene. Gain-of-function mutations in platelet-derived growth factor receptor alpha (PDGFRA) gene are found in about 10% of GISTs. GISTs without c-kit and PDGFRA genes are rare in ordinary case. However, they are seen in specific conditions such as juvenile cases, NF1, Carney's triad and Carney-Stratakis syndrome. Therefore, mutational analyses of c-kit and PDGFRA genes are useful for definite diagnosis of GIST when histopathological diagnosis is difficult. Mutation sites of c-kit and PDGFRA genes may correlate with clinicopathological features including prognosis and effects of imatinib, a molecular targeted drug. Mutational analyses of the c-kit and PDGFRA genes are significant for clinical practice in GIST patients. | |