Gastrointestinal stromal tumour
Última actualización 14 Jul 2021
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A gastrointestinal stromal tumour (GIST) is a type of tumour that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. This type of tumour is thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. Affected individuals can develop one or more tumours. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop this type of tumour.
Descripción
A gastrointestinal stromal tumour (GIST) is a type of tumour that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. This type of tumour is thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. Affected individuals can develop one or more tumours. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop this type of tumour.
Small tumours may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the belly area (abdomen), nausea, vomiting, loss of appetite, or weight loss. Sometimes, tumours cause bleeding into the gastrointestinal tract, which may lead to low red blood cell counts (anaemia) and, consequently, weakness and tiredness. Bleeding into the intestines may cause black and tarry stools, and bleeding into the throat or stomach may cause vomiting of blood.
Affected individuals with no family history of GIST typically have only one tumour (called a sporadic GIST). People with a family history of GISTs (called familial GISTs) often have multiple tumours and additional signs or symptoms, including noncancerous overgrowth (hyperplasia) of other cells in the gastrointestinal tract and patches of dark skin on various areas of the body. Some affected individuals have a skin condition called urticaria pigmentosa (also known as maculopapular cutaneous mastocytosis), which is characterised by raised patches of brownish skin that sting or itch when touched.
A rare form of GIST, called succinate dehydrogenase (SDH)-deficient GIST, tends to occur in childhood or young adulthood and affects females more commonly than males. In this form, tumours are almost always in the stomach. Individuals with an SDH-deficient GIST have a high risk of developing other types of tumours, particularly noncancerous tumours in the nervous system called paragangliomas and noncancerous lung tumours called pulmonary chondromas. When GISTs occur in combination with paragangliomas, the condition is known as Carney-Stratakis syndrome; the combination of GISTs, paragangliomas, and pulmonary chondromas is known as Carney triad; and the combination of GISTs and pulmonary chondroma is known as incomplete Carney triad.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Gastrointestinal stromal neoplasm
Gastrointestinal stromal sarcoma
GIST
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Lecturas adicionales y referencias
- Gastrointestinal stromal tumour; MedlinePlus, National Library of Medicine.
- Agaram NP, Wong GC, Guo T, Maki RG, Singer S, Dematteo RP, Besmer P, Antonescu CR. Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer. 2008 Oct;47(10):853-9. doi: 10.1002/gcc.20589.
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- Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am J Pathol. 2000 Nov;157(5):1581-5. doi: 10.1016/S0002-9440(10)64795-5.
- Oudijk L, Gaal J, Korpershoek E, van Nederveen FH, Kelly L, Schiavon G, Verweij J, Mathijssen RH, den Bakker MA, Oldenburg RA, van Loon RL, O'Sullivan MJ, de Krijger RR, Dinjens WN. SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors. Mod Pathol. 2013 Mar;26(3):456-63. doi: 10.1038/modpathol.2012.186. Epub 2012 Nov 23.
- Roskoski R Jr. Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor. Biochem Biophys Res Commun. 2005 Nov 11;337(1):1-13. doi: 10.1016/j.bbrc.2005.08.055.
- Wagner AJ, Remillard SP, Zhang YX, Doyle LA, George S, Hornick JL. Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors. Mod Pathol. 2013 Feb;26(2):289-94. doi: 10.1038/modpathol.2012.153. Epub 2012 Sep 7.
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