Gastrointestinal stromal tumor risk factors

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Overview

The most common risk factors in the development of gastrointestinal stromal tumors (GIST) include age and genetic syndromes. Age is considered as the most potent risk factor in the development of GIST with people in the age group of 50-80 believed to be at the highest risk. Genetic syndromes associated with GIST include neurofibromatosis type 1, Carney-Stratakis syndrome and familial gastrointestinal stromal tumor syndrome.

Risk factors

The most potent risk factors in the development of gastrointestinal stromal tumors (GIST) include age and genetic syndromes. Genetic syndromes associated with GIST include neurofibromatosis type 1, Carney-Stratakis syndrome, and familial gastrointestinal stromal tumor syndrome.

Age:

• It is considered as the most potent risk factor in the development of GIST with people in the age group of 50-80 believed to be at the highest risk.

Genetic syndromes:

Neurofibromatosis type 1 (or von Recklinghausen disease):

• Neurofibromatosis type 1 is an autosomal dominant condition caused by mutation in NF-1 gene. Patients with neurofibromatosis type 1 develop GIST as multiple tumors in the small intestine.

Carney-Stratakis syndrome:

• Carney-Stratakis syndrome is a rare, autosomal dominant condition due to mutation in succinate dehydrogenase enzyme complex. Patients with Carney-Stratakis syndrome have an increased risk of GISTs and paragangliomas. Patients are generally in their second decade of life and more likely to have multiple GISTs.

Familial gastrointestinal stromal tumor syndrome:

• Familial gastrointestinal stromal tumor syndrome is a rare, autosomal dominant condition that leads to an increased risk of developing GISTs. These patients have a mutation in their KIT gene (90% cases) or PDGFRA gene (5-10% cases). Patients with familial GIST syndrome develop GIST at an early age and are more likely to have multiple GISTs.