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Gastric polyposis

MedGen UID:
68629
Concept ID:
C0236048
Disease or Syndrome
Synonym: Multiple gastric polyps
SNOMED CT: Polyp of stomach (78809005); Gastric polyp (78809005); Gastric polyposis (87252009); Gastritis polyposa (87252009); Multiple gastric polyps (87252009)
 
HPO: HP:0004394

Definition

A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). [from NCI]

Conditions with this feature

Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Juvenile polyposis syndrome
MedGen UID:
87518
Concept ID:
C0345893
Neoplastic Process
Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.
Aicardi-Goutieres syndrome 1
MedGen UID:
162912
Concept ID:
C0796126
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.

Professional guidelines

PubMed

Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastrointest Endosc 2022 Jun;95(6):1025-1047. Epub 2022 Apr 26 doi: 10.1016/j.gie.2022.02.044. PMID: 35487765
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Am J Gastroenterol 2022 Jun 1;117(6):846-864. Epub 2022 Apr 26 doi: 10.14309/ajg.0000000000001755. PMID: 35471415

Suggested Reading

PubMed

PDQ Cancer Genetics Editorial Board
2002 PMID: 26389505
PDQ Cancer Genetics Editorial Board; PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101793. Epub 2022 Mar 16 doi: 10.1016/j.bpg.2022.101793. PMID: 35988966
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Zhang R, Li H, Li N, Shi JF, Li J, Chen HD, Yu YW, Qin C, Ren JS, Chen WQ, He J
Chin Med J (Engl) 2021 Jul 22;134(16):1952-1958. doi: 10.1097/CM9.0000000000001652. PMID: 34310399Free PMC Article
Kemp Bohan PM, Mankaney G, Vreeland TJ, Chick RC, Hale DF, Cindass JL, Hickerson AT, Ensley DC, Sohn V, Clifton GT, Peoples GE, Burke CA
Fam Cancer 2021 Jan;20(1):23-33. Epub 2020 Jun 8 doi: 10.1007/s10689-020-00189-y. PMID: 32507936Free PMC Article
Carneiro F
Pathologe 2012 Nov;33 Suppl 2:231-4. doi: 10.1007/s00292-012-1677-6. PMID: 23052347

Diagnosis

Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101793. Epub 2022 Mar 16 doi: 10.1016/j.bpg.2022.101793. PMID: 35988966
AbiMansour J, Wu TT, Sweetser S
Gastroenterology 2022 Aug;163(2):379-381. Epub 2022 Apr 27 doi: 10.1053/j.gastro.2022.04.036. PMID: 35489432
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Zhang R, Li H, Li N, Shi JF, Li J, Chen HD, Yu YW, Qin C, Ren JS, Chen WQ, He J
Chin Med J (Engl) 2021 Jul 22;134(16):1952-1958. doi: 10.1097/CM9.0000000000001652. PMID: 34310399Free PMC Article
de Boer WB, Ee H, Kumarasinghe MP
Am J Surg Pathol 2018 Jan;42(1):1-8. doi: 10.1097/PAS.0000000000000924. PMID: 29112017

Therapy

Singh AD, Burke CA, Bhatt A
Gastrointest Endosc 2022 Aug;96(2):374-375. Epub 2022 Apr 20 doi: 10.1016/j.gie.2022.04.012. PMID: 35460668
Kemp Bohan PM, Mankaney G, Vreeland TJ, Chick RC, Hale DF, Cindass JL, Hickerson AT, Ensley DC, Sohn V, Clifton GT, Peoples GE, Burke CA
Fam Cancer 2021 Jan;20(1):23-33. Epub 2020 Jun 8 doi: 10.1007/s10689-020-00189-y. PMID: 32507936Free PMC Article
Mavilia MG, Siddique O, Rezaizadeh H
Gastrointest Endosc 2020 Jul;92(1):215-217. Epub 2020 Jan 23 doi: 10.1016/j.gie.2020.01.024. PMID: 31981649
Leone PJ, Mankaney G, Sarvapelli S, Abushamma S, Lopez R, Cruise M, LaGuardia L, O'Malley M, Church JM, Kalady MF, Burke CA
Gastrointest Endosc 2019 May;89(5):961-968. Epub 2018 Dec 28 doi: 10.1016/j.gie.2018.12.018. PMID: 30597145
Gu GL, Wang SL, Wei XM, Bai L
World J Gastroenterol 2008 Apr 7;14(13):2121-3. doi: 10.3748/wjg.14.2121. PMID: 18395919Free PMC Article

Prognosis

DelSignore M, Jeong T, Denmark G, Feldman D, Shih A, Zukerberg L, Chung DC
Gastrointest Endosc 2023 Jan;97(1):25-34.e6. Epub 2022 Sep 14 doi: 10.1016/j.gie.2022.09.002. PMID: 36113625
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Leone PJ, Mankaney G, Sarvapelli S, Abushamma S, Lopez R, Cruise M, LaGuardia L, O'Malley M, Church JM, Kalady MF, Burke CA
Gastrointest Endosc 2019 May;89(5):961-968. Epub 2018 Dec 28 doi: 10.1016/j.gie.2018.12.018. PMID: 30597145
Ren R, Wang Z, Sun H, Gao X, Sun G, Peng L, Yan B, Yang Y
Sci Rep 2018 Sep 14;8(1):13817. doi: 10.1038/s41598-018-31738-2. PMID: 30217998Free PMC Article
Sample DC, Samadder NJ, Pappas LM, Boucher KM, Samowitz WS, Berry T, Westover M, Nathan D, Kanth P, Byrne KR, Burt RW, Neklason DW
BMC Gastroenterol 2018 Jul 16;18(1):115. doi: 10.1186/s12876-018-0841-8. PMID: 30012100Free PMC Article

Clinical prediction guides

Mankaney GN, Cruise M, Sarvepalli S, Bhatt A, Arora Z, Baggot B, Laguardia L, O'Malley M, Church J, Kalady M, Burke CA
Gastrointest Endosc 2020 Sep;92(3):755-762. Epub 2020 May 4 doi: 10.1016/j.gie.2020.04.065. PMID: 32380015
Chumbalkar V, Fu Z, Boguniewicz A, Singh TP, Lee H
Obes Surg 2019 Jun;29(6):1805-1809. doi: 10.1007/s11695-019-03740-8. PMID: 30737763
Ren R, Wang Z, Sun H, Gao X, Sun G, Peng L, Yan B, Yang Y
Sci Rep 2018 Sep 14;8(1):13817. doi: 10.1038/s41598-018-31738-2. PMID: 30217998Free PMC Article
Sample DC, Samadder NJ, Pappas LM, Boucher KM, Samowitz WS, Berry T, Westover M, Nathan D, Kanth P, Byrne KR, Burt RW, Neklason DW
BMC Gastroenterol 2018 Jul 16;18(1):115. doi: 10.1186/s12876-018-0841-8. PMID: 30012100Free PMC Article
Beer A, Streubel B, Asari R, Dejaco C, Oberhuber G
Z Gastroenterol 2017 Nov;55(11):1131-1134. Epub 2017 Nov 15 doi: 10.1055/s-0043-117182. PMID: 29141268

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