Diagnosis, prognosis and treatment of patients with gastrointestinal stromal tumour (GIST) and germline mutation of KIT exon 13.

摘要: Abstract Background The demonstration of the role activating mutations KIT or PDGFRA and development targeted therapies have modified prognosis patients with gastrointestinal stromal tumours (GISTs). Identification kindreds germline mutation raised new questions, especially regarding diagnosis, management, monitoring treatment these patients. Methods We identified index three different families a exon 13 mutation. Pedigree GIST kindred was assessed in oncogenetic consultation, medical records were reviewed. Efficacy imatinib GISTs evaluated compared published data. Results All p.K642E. Twenty affected families. multiple occurred before 45years all but one case. resected spindle cell histology, CD117 positive, had low intermediate risk relapse. Lentigines involving palms soles detected four patients, motrice dysphagia. Nine died their disease, 65years. Affected most often symptomatic required iterative surgical resections. Imatinib efficient p.K642E disease control rate superior to 90% whatever sporadic inherited origin tumour. Conclusions propose regular screening who Treatment should be considered for those tumour, larger than 3cm and/or growing rapidly.