Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review

Primary familial gastrointestinal tumors (GIST) are rare. This review summarizes the clinical features, treatment, and prognosis of the disease, aiming to help clinicians better diagnose and treat familial GIST. Gastrointestinal stromal tumors are the most common mesenchymal tumors of the digestive tract, most of which are sporadic, and familial GISTs with germline mutations are rarely seen. Here, we report a 26-year-old female with a germline p. W557R mutation in exon 11 of the KIT gene. The proband and her father and sister presented with multifocal GIST and pigmented nevi. All 3 patients underwent surgery and imatinib therapy. To date, only 49 kindreds with germline KIT mutations and 6 kindreds with germline PDGFRA mutations have been reported. Summarizing the reported kindreds, the majority of familial GISTs manifest as multiple primary GISTs complicated with special clinical manifestations, including cutaneous hyperpigmentation, dysphagia, mastocytosis, inflammatory fibrous polyps, and large hands. Familial GISTs are generally thought to exhibit TKI sensitivity similar to that of sporadic GISTs with the same mutation.

Automated summary

This review summarizes the clinical features, treatment, and prognosis of familial gastrointestinal tumors (GIST), aiming to assist clinicians in better diagnosing and treating the disease. Familial GISTs are rare, with most cases being sporadic and only a few having germline mutations.