Patient with high-risk GIST not associated with c-KIT mutations

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.