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Gastrointestinal stromal tumor(GIST)

MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
Synonyms: Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic
SNOMED CT: Gastrointestinal pacemaker cell tumor (128755003); GIST (128755003); Gastrointestinal stromal tumor (128755003); Gastrointestinal stromal tumor (420120006); GIST - Gastrointestinal stromal tumor (420120006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Sporadic (HPO, OMIM)
 
Genes (locations): KIT (4q12); SDHB (1p36.13); SDHC (1q23.3)
 
HPO: HP:0100723
Monarch Initiative: MONDO:0011719
OMIM®: 606764
Orphanet: ORPHA44890

Definition

Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510). [from OMIM]

Additional description

From MedlinePlus Genetics
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. This type of tumor 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 tumors. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop this type of tumor. \n\nSmall tumors 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, tumors cause bleeding into the gastrointestinal tract, which may lead to low red blood cell counts (anemia) 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.\n\nAffected individuals with no family history of GIST typically have only one tumor (called a sporadic GIST). People with a family history of GISTs (called familial GISTs) often have multiple tumors 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 characterized by raised patches of brownish skin that sting or itch when touched.\n\nA 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, tumors are almost always in the stomach. Individuals with an SDH-deficient GIST have a high risk of developing other types of tumors, particularly noncancerous tumors in the nervous system called paragangliomas and noncancerous lung tumors 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.  https://medlineplus.gov/genetics/condition/gastrointestinal-stromal-tumor

Clinical features

From HPO
Neurofibroma
MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.
Gastrointestinal stromal tumor
MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510).
Large hands
MedGen UID:
98097
Concept ID:
C0426870
Finding
Urticaria
MedGen UID:
22587
Concept ID:
C0042109
Disease or Syndrome
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Intestinal obstruction
MedGen UID:
43933
Concept ID:
C0021843
Disease or Syndrome
Blockage of the normal flow of the intestinal contents within the bowel.
Gastrointestinal stromal tumor
MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Neurofibroma
MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.
Neurofibroma
MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.
Urticaria
MedGen UID:
22587
Concept ID:
C0042109
Disease or Syndrome
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
Darkening of the skin due to excessive melanin deposition. Causes include skin injuries, pregnancy, eczema, and Addison disease.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGastrointestinal stromal tumor
Follow this link to review classifications for Gastrointestinal stromal tumor in Orphanet.

Conditions with this feature

Gastrointestinal stromal tumor
MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510).
Paragangliomas 4
MedGen UID:
349380
Concept ID:
C1861848
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
MedGen UID:
1677803
Concept ID:
C5193005
Disease or Syndrome
GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by Manley et al., 2018).

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
Duffy MJ, Lamerz R, Haglund C, Nicolini A, Kalousová M, Holubec L, Sturgeon C
Int J Cancer 2014 Jun 1;134(11):2513-22. Epub 2013 Aug 27 doi: 10.1002/ijc.28384. PMID: 23852704Free PMC Article
Wong NA, Deans ZC, Ramsden SC
J Clin Pathol 2012 Sep;65(9):786-90. Epub 2012 Jun 9 doi: 10.1136/jclinpath-2012-200851. PMID: 22685257

Recent clinical studies

Etiology

Fujinaga A, Ohta M, Masuda T, Itai Y, Nakanuma H, Kawasaki T, Kawano Y, Hirashita T, Endo Y, Inomata M
Clin J Gastroenterol 2021 Dec;14(6):1637-1641. Epub 2021 Sep 6 doi: 10.1007/s12328-021-01513-4. PMID: 34486081
Nemunaitis J, Bauer S, Blay JY, Choucair K, Gelderblom H, George S, Schöffski P, Mehren MV, Zalcberg J, Achour H, Ruiz-Soto R, Heinrich MC
Future Oncol 2020 Jan;16(1):4251-4264. Epub 2019 Nov 22 doi: 10.2217/fon-2019-0633. PMID: 31755321
Đokić M, Novak J, Petrič M, Ranković B, Štabuc M, Trotovšek B
BMC Surg 2019 Oct 29;19(1):158. doi: 10.1186/s12893-019-0608-3. PMID: 31664984Free PMC Article
Li R, Gan H, Ni S, Fu Y, Zhu H, Peng W
J Comput Assist Tomogr 2019 Sep/Oct;43(5):741-746. doi: 10.1097/RCT.0000000000000902. PMID: 31356524
Liu X, Qiu H, Wu Z, Zhang P, Feng X, Chen T, Li Y, Tao K, Li G, Sun X, Zhou Z; China Gastrointestinal Stromal Tumor Study Group (CN-GIST).
J Gastrointest Surg 2018 Dec;22(12):2150-2157. Epub 2018 Jul 20 doi: 10.1007/s11605-018-3799-5. PMID: 30030719

Diagnosis

Braunstein C, Sirveaux F, Kalbacher E, Aubry S, Delroeux D, Hubert P, Marie B, Meynard G, Mihai I, Chaigneau L
J Med Case Rep 2021 Aug 18;15(1):428. doi: 10.1186/s13256-021-02962-8. PMID: 34404447Free PMC Article
Song Q, Li G, Li Z, Ao S, Hou J, Lv G
BMC Surg 2021 Apr 20;21(1):202. doi: 10.1186/s12893-021-01208-0. PMID: 33879132Free PMC Article
Matsuno K, Kanazawa Y, Kakinuma D, Hagiwara N, Ando F, Masuda Y, Fujita I, Arai H, Nomura T, Kato S, Yoshiyuki T, Peng WX, Yoshida H
Clin J Gastroenterol 2021 Apr;14(2):494-499. Epub 2021 Jan 29 doi: 10.1007/s12328-021-01343-4. PMID: 33512639Free PMC Article
Đokić M, Novak J, Petrič M, Ranković B, Štabuc M, Trotovšek B
BMC Surg 2019 Oct 29;19(1):158. doi: 10.1186/s12893-019-0608-3. PMID: 31664984Free PMC Article
Li R, Gan H, Ni S, Fu Y, Zhu H, Peng W
J Comput Assist Tomogr 2019 Sep/Oct;43(5):741-746. doi: 10.1097/RCT.0000000000000902. PMID: 31356524

Therapy

Braunstein C, Sirveaux F, Kalbacher E, Aubry S, Delroeux D, Hubert P, Marie B, Meynard G, Mihai I, Chaigneau L
J Med Case Rep 2021 Aug 18;15(1):428. doi: 10.1186/s13256-021-02962-8. PMID: 34404447Free PMC Article
Nemunaitis J, Bauer S, Blay JY, Choucair K, Gelderblom H, George S, Schöffski P, Mehren MV, Zalcberg J, Achour H, Ruiz-Soto R, Heinrich MC
Future Oncol 2020 Jan;16(1):4251-4264. Epub 2019 Nov 22 doi: 10.2217/fon-2019-0633. PMID: 31755321
Đokić M, Novak J, Petrič M, Ranković B, Štabuc M, Trotovšek B
BMC Surg 2019 Oct 29;19(1):158. doi: 10.1186/s12893-019-0608-3. PMID: 31664984Free PMC Article
Li R, Gan H, Ni S, Fu Y, Zhu H, Peng W
J Comput Assist Tomogr 2019 Sep/Oct;43(5):741-746. doi: 10.1097/RCT.0000000000000902. PMID: 31356524
Khoshnood A
J Oncol Pharm Pract 2019 Sep;25(6):1473-1485. Epub 2019 May 8 doi: 10.1177/1078155219846955. PMID: 31068088

Prognosis

Fujinaga A, Ohta M, Masuda T, Itai Y, Nakanuma H, Kawasaki T, Kawano Y, Hirashita T, Endo Y, Inomata M
Clin J Gastroenterol 2021 Dec;14(6):1637-1641. Epub 2021 Sep 6 doi: 10.1007/s12328-021-01513-4. PMID: 34486081
Tateyama Y, Naganuma A, Suzuki Y, Masuda T, Uehara S, Hoshino T, Yasuoka H, Kudo T, Ogawa Y, Ogawa T, Tateno K, Ishii N, Araki K, Harimoto N, Shirabe K, Kakizaki S
Clin J Gastroenterol 2021 Apr;14(2):570-576. Epub 2021 Jan 28 doi: 10.1007/s12328-021-01340-7. PMID: 33507488
Nemunaitis J, Bauer S, Blay JY, Choucair K, Gelderblom H, George S, Schöffski P, Mehren MV, Zalcberg J, Achour H, Ruiz-Soto R, Heinrich MC
Future Oncol 2020 Jan;16(1):4251-4264. Epub 2019 Nov 22 doi: 10.2217/fon-2019-0633. PMID: 31755321
Liu X, Qiu H, Wu Z, Zhang P, Feng X, Chen T, Li Y, Tao K, Li G, Sun X, Zhou Z; China Gastrointestinal Stromal Tumor Study Group (CN-GIST).
J Gastrointest Surg 2018 Dec;22(12):2150-2157. Epub 2018 Jul 20 doi: 10.1007/s11605-018-3799-5. PMID: 30030719
Liu X, Qiu H, Zhang P, Feng X, Chen T, Li Y, Tao K, Li G, Sun X, Zhou Z; China Gastrointestinal Stromal Tumor Study Group (CN-GIST).
Hum Pathol 2018 Apr;74:17-24. Epub 2017 Sep 27 doi: 10.1016/j.humpath.2017.09.003. PMID: 28962945

Clinical prediction guides

Fujinaga A, Ohta M, Masuda T, Itai Y, Nakanuma H, Kawasaki T, Kawano Y, Hirashita T, Endo Y, Inomata M
Clin J Gastroenterol 2021 Dec;14(6):1637-1641. Epub 2021 Sep 6 doi: 10.1007/s12328-021-01513-4. PMID: 34486081
Đokić M, Novak J, Petrič M, Ranković B, Štabuc M, Trotovšek B
BMC Surg 2019 Oct 29;19(1):158. doi: 10.1186/s12893-019-0608-3. PMID: 31664984Free PMC Article
Liu X, Qiu H, Wu Z, Zhang P, Feng X, Chen T, Li Y, Tao K, Li G, Sun X, Zhou Z; China Gastrointestinal Stromal Tumor Study Group (CN-GIST).
J Gastrointest Surg 2018 Dec;22(12):2150-2157. Epub 2018 Jul 20 doi: 10.1007/s11605-018-3799-5. PMID: 30030719
Liu X, Qiu H, Zhang P, Feng X, Chen T, Li Y, Tao K, Li G, Sun X, Zhou Z; China Gastrointestinal Stromal Tumor Study Group (CN-GIST).
Hum Pathol 2018 Apr;74:17-24. Epub 2017 Sep 27 doi: 10.1016/j.humpath.2017.09.003. PMID: 28962945
Etit D, Kar H, Ekinci N, Yenipazar AE, Çakalağaoğlu F
Balkan Med J 2017 Apr 5;34(2):168-171. doi: 10.4274/balkanmedj.2015.1331. PMID: 28418346Free PMC Article

Recent systematic reviews

Tsai MK, Chen HY, Chuang ML, Chen CW, Jong GP
Medicina (Kaunas) 2020 Oct 14;56(10) doi: 10.3390/medicina56100541. PMID: 33066662Free PMC Article
Zhou Y, Wang X, Si X, Wang S, Cai Z
Asian J Surg 2020 Jan;43(1):1-8. Epub 2019 Mar 8 doi: 10.1016/j.asjsur.2019.02.006. PMID: 30853211
Prablek M, Srinivasan VM, Srivatsan A, Holdener S, Oneissi M, Heck KA, Jalali A, Mandel J, Viswanathan A, Patel AJ
BMC Cancer 2019 Nov 15;19(1):1119. doi: 10.1186/s12885-019-6316-7. PMID: 31730471Free PMC Article
Waidhauser J, Bornemann A, Trepel M, Märkl B
World J Gastroenterol 2019 Aug 14;25(30):4261-4277. doi: 10.3748/wjg.v25.i30.4261. PMID: 31435178Free PMC Article
Herzberg M, Beer M, Anupindi S, Vollert K, Kröncke T
J Pediatr Surg 2018 Sep;53(9):1862-1870. Epub 2018 Mar 29 doi: 10.1016/j.jpedsurg.2018.03.022. PMID: 29685489

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