Massive Multifocal Familial GIST: A Case Report

Gastrointestinal stromal tumors (GIST) are uncommon mesenchymal neoplasms of the gastrointestinal tract. The majority of GISTs are the result of sporadic mutations, most commonly of the KIT proto-oncogene. Germline mutations account for 5% of GISTs and result in rare familial syndromes. We present a 66-year-old male with a family history of GIST who presented with mild abdominal pain and was found to have a massive, multifocal GIST. The main tumor was resected via laparotomy and the weight was found over 2 kg. He was commenced on adjuvant therapy with imatinib and will be closely monitored. Familial GISTs tend to be larger, multifocal and diagnosed at a younger age. Familial GISTs are extremely rare conditions. There is little to no evidence on the long-term outcomes of treatment on which to base management decisions.