Gastrointestinal stromal tumor causes: Difference between revisions
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==Causes== | ==Causes== | ||
Most GISTs are sporadic. Less than 5% occur as part of [[genetic disorder|hereditary]] familial or idiopathic multitumor syndromes. These include, in descending order of frequency, [[neurofibromatosis]] Recklinghausen (NF-1), [[Carney's triad]] (gastric GIST, [[pulmonary]] [[chondroma]] and extra-[[adrenal]] [[paraganglioma]]), [[germline]] [[Gain-of-function mutation|gain-of-function]] [[mutation]]s in [[c-Kit]]/[[PDGFRA]], and the [[Carney's triad#Carney-Stratakis syndrome|Carney-Stratakis syndrome]].<ref name="Agaimy2010" /> The Carney-Stratakis syndrome is a [[Dyad (Greek philosophy)|dyad]] of hereditary GIST and paraganglioma, that is caused by germline mutations in the [[mitochondria]]l [[tumor suppressor gene]] pathway involving the [[succinate dehydrogenase]] (SDH) subunits [[SDHD]], [[Succinate dehydrogenase complex subunit C|SDHC]] and [[SDHB]]. | Most GISTs are sporadic. Less than 5% occur as part of [[genetic disorder|hereditary]] familial or idiopathic multitumor syndromes. These include, in descending order of frequency, [[neurofibromatosis]] Recklinghausen (NF-1), [[Carney's triad]] (gastric GIST, [[pulmonary]] [[chondroma]] and extra-[[adrenal]] [[paraganglioma]]), [[germline]] [[Gain-of-function mutation|gain-of-function]] [[mutation]]s in [[c-Kit]]/[[PDGFRA]], and the [[Carney's triad#Carney-Stratakis syndrome|Carney-Stratakis syndrome]]. | ||
<ref name="Agaimy2010">Agaimy A, Hartmann A. [Hereditary and non-hereditary syndromic gastointestinal stromal tumours]. [in German] Pathologe. 2010 Oct;31(6):430-7. doi: 10.1007/s00292-010-1354-6. PMID 20848108</ref> The Carney-Stratakis syndrome is a [[Dyad (Greek philosophy)|dyad]] of hereditary GIST and paraganglioma, that is caused by germline mutations in the [[mitochondria]]l [[tumor suppressor gene]] pathway involving the [[succinate dehydrogenase]] (SDH) subunits [[SDHD]], [[Succinate dehydrogenase complex subunit C|SDHC]] and [[SDHB]]. Carney's triad does not feature SDH mutations. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 18:27, 2 September 2015
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Gastrointestinal stromal tumor Microchapters |
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Differentiating Gastrointestinal stromal tumor from other Diseases |
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Gastrointestinal stromal tumor causes On the Web |
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Risk calculators and risk factors for Gastrointestinal stromal tumor causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Parminder Dhingra, M.D. [2]
Overview
Causes
Most GISTs are sporadic. Less than 5% occur as part of hereditary familial or idiopathic multitumor syndromes. These include, in descending order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney's triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), germline gain-of-function mutations in c-Kit/PDGFRA, and the Carney-Stratakis syndrome.
[1] The Carney-Stratakis syndrome is a dyad of hereditary GIST and paraganglioma, that is caused by germline mutations in the mitochondrial tumor suppressor gene pathway involving the succinate dehydrogenase (SDH) subunits SDHD, SDHC and SDHB. Carney's triad does not feature SDH mutations.
References
- ↑ Agaimy A, Hartmann A. [Hereditary and non-hereditary syndromic gastointestinal stromal tumours]. [in German] Pathologe. 2010 Oct;31(6):430-7. doi: 10.1007/s00292-010-1354-6. PMID 20848108