Detection of a new mutation in KIT exon 9 in a gastrointestinal stromal tumor.

摘要: Gastrointestinal stromal tumors are mesenchymal arising in the stomach and small bowel more rarely rectum, esophagus, peritoneum retroperitoneum. These characterized by KIT or PDGFRA mutations. mutations all frame lead to constitutive tyrosine kinase domain activation without ligand binding. Mutations concern four exons (9, 11, 13 17) but mainly exon 11. We report a new mutation 9, since only AY 502-503 duplication/insertion, FAF 506 insertion P456S substitution have been previously reported. This consists of large deletion 43 nucleotides an 25 nucleotides. More surprisingly, sequence inserted corresponds complementary wild allele opposite sense. To our knowledge, this has never described.