Gastrointestinal stromal tumor risk factors: Difference between revisions
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{{Gastrointestinal stromal tumor}} | {{Gastrointestinal stromal tumor}} | ||
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==Overview== | |||
The most common [[Risk factor|risk factors]] in the development of gastrointestinal stromal tumors (GIST) include [[age]] and [[genetic]] [[Syndrome|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. [[Genetics|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 [[Genetics|genetic]] [[Syndrome|syndromes]]. [[Genetics|Genetic]] [[Syndrome|syndromes]] associated with GIST include [[neurofibromatosis type 1]], Carney-Stratakis syndrome, and familial gastrointestinal stromal tumor [[syndrome]].<ref name="pmid10377927">{{cite journal |vauthors=Carney JA |title=Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence |journal=Mayo Clin. Proc. |volume=74 |issue=6 |pages=543–52 |year=1999 |pmid=10377927 |doi=10.4065/74.6.543 |url=}}</ref><ref name="pmid15897742">{{cite journal |vauthors=Takazawa Y, Sakurai S, Sakuma Y, Ikeda T, Yamaguchi J, Hashizume Y, Yokoyama S, Motegi A, Fukayama M |title=Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease) |journal=Am. J. Surg. Pathol. |volume=29 |issue=6 |pages=755–63 |year=2005 |pmid=15897742 |doi= |url=}}</ref> | |||
=== 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 I|Neurofibromatosis type 1]] (or [[von Recklinghausen disease]]): ===== | |||
:* [[Neurofibromatosis type I|Neurofibromatosis type 1]] is an [[autosomal dominant]] condition caused by [[mutation]] in NF-1 [[gene]]. [[Patient|Patients]] with [[Neurofibromatosis type I|neurofibromatosis type 1]] develop GIST as multiple [[Tumor|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. [[Patient|Patients]] with Carney-Stratakis [[syndrome]] have an increased risk of GISTs and [[Paraganglioma|paragangliomas]]. [[Patient|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). [[Patient|Patients]] with [[familial]] GIST [[syndrome]] develop GIST at an early age and are more likely to have multiple GISTs. | |||
==References== | ==References== | ||
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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.[1][2]
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.
References
- ↑ Carney JA (1999). "Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence". Mayo Clin. Proc. 74 (6): 543–52. doi:10.4065/74.6.543. PMID 10377927.
- ↑ Takazawa Y, Sakurai S, Sakuma Y, Ikeda T, Yamaguchi J, Hashizume Y, Yokoyama S, Motegi A, Fukayama M (2005). "Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease)". Am. J. Surg. Pathol. 29 (6): 755–63. PMID 15897742.