Abstract
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.
Highlights
Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms which usually occur in the stomach (56%) and small bowel (32%)
We present a case of KIT positive familial GIST with a massive, multifocal tumor burden
The patient presented with only mild abdominal pain in spite of the large volume of disease and intraabdominal bleeding found on laparoscopy
Summary
Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms which usually occur in the stomach (56%) and small bowel (32%). We present a 66-yearold male with a family history of GIST who presented with mild abdominal pain and was found to have a massive, multifocal GIST. The majority of GISTs are the result of sporadic mutations to the KIT proto-oncogene which accounts for >90% of cases [3]. There are rare reports of inherited germline mutations to these genes resulting in familial GIST syndromes.
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