title: Patient with high-risk GIST not associated with c-KIT mutations: same benefit from adjuvant therapy?
abstract: A patient was diagnosed with neurofibromatosis type 1 (NF1) and gastrointestinal stromal tumour (GIST). This is not simply a coincidence; numerous molecular and genetic studies have established a close relationship between the two disorders, suggesting that GIST should be included in the clinical spectrum of NF1. In NF1 presenting GIST, the tumour usually develops in the small intestine. We present a 51-year-old woman diagnosed with NF1, who on follow-up showed an intra-abdominal mass. The pathological study of the mass after surgery led to the diagnosis of GIST with no mutations in exons 9, 11, 13 and 17 of the c-KIT gene or in exons 12, 14 and 18 of the platelet-derived growth factor receptor α gene. Imatinib was initiated as coadjuvant therapy with good tolerance, no toxicity and without evidence of relapse during follow-up.
authors: Medical Oncology Service, Arnau de Vilanova Hospital, Lleida, Spain.
authors: Maria Eugenia Ortega
authors: ME
authors: Izquierdo
authors: Maria Teresa Taberner
authors: MT
authors: Bonastre
mesh_terms: D000970:Antineoplastic Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D001549:Benzamides; D017024:Chemotherapy, Adjuvant; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D046152:Gastrointestinal Stromal Tumors / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D000068877:Imatinib Mesylate; D008875:Middle Aged; D009154:Mutation; D009364:Neoplasm Recurrence, Local / Q000517:prevention & control; D009456:Neurofibromatosis 1 / Q000235:genetics; D010879:Piperazines / Q000008:administration & dosage / Q000627:therapeutic use*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D011743:Pyrimidines / Q000008:administration & dosage / Q000627:therapeutic use*; D012306:Risk; D014057:Tomography, X-Ray Computed
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit