Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors.

摘要: Gastrointestinal stromal tumors (GISTs) typically express high levels of the Kit-receptor. The majority GISTs carry mutations in c-kit protooncogene clustering exon 11. significance for biological behavior is still under discussion. We evaluated 55 sporadic with available follow-up data juxtamembrane domain and detected 35 cases (63.6%). found a mutational hotspot codons 557 (tryptophan) 558 (lysine) preferentially histomorphologically malignant tumors. In group carrying mutations, 16 21 malignant, but only 3 8 benign 6 lesions uncertain potential, carried Trp-557 and/or Lys-558. investigated whether these 2 amino acids had an impact on behavior. Lys-558 were mutated all 15 metastatic minority nonmetastatic A combined deletion occurred exclusively GISTs. conclude that addition to histomorphological evaluation determination 11 may be additional parameter predicting risk important decision patients will need close clinical or further adjuvant treatment kit antagonists.