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Adenomatous colonic polyposis

MedGen UID:
358118
Concept ID:
C1868071
Finding
Synonyms: Multiple adenomatous colon polyps; Multiple colonic adenomatous polyps
 
HPO: HP:0005227

Definition

Presence of multiple adenomatous polyps in the colon. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdenomatous colonic polyposis

Conditions with this feature

Familial multiple polyposis syndrome
MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.
Oligodontia-colorectal cancer syndrome
MedGen UID:
324868
Concept ID:
C1837750
Neoplastic Process
MYH-associated polyposis
MedGen UID:
332993
Concept ID:
C1837991
Disease or Syndrome
MUTYH-associated polyposis (MAP), caused by biallelic pathogenic variants in MUTYH, is characterized by a greatly increased lifetime risk of colorectal cancer (CRC) (43% to almost 100% in the absence of timely surveillance). Although typically associated with ten to a few hundred colonic adenomatous polyps that are evident at a mean age of about 50 years, colonic cancer develops in some individuals with biallelic MUTYH pathogenic variants in the absence of polyposis. Duodenal adenomas are found in 17%-25% of individuals with MAP. Serrated adenomas, hyperplastic/sessile serrated polyps, and mixed (hyperplastic and adenomatous) polyps can also occur. The lifetime risk of duodenal cancer is about 4%. Also noted are a modestly increased risk for rather late-onset malignancies of the ovary, bladder, and skin, and some evidence for an increased risk for breast and endometrial cancer. Some affected individuals develop sebaceous gland tumors and more recently, thyroid abnormalities (multinodular goiter, single nodules, and papillary thyroid cancer) have been reported.
Leukemia, acute myelocytic, with polyposis coli and colon cancer
MedGen UID:
383699
Concept ID:
C1855505
Neoplastic Process
Hereditary mixed polyposis syndrome 2
MedGen UID:
350500
Concept ID:
C1864730
Disease or Syndrome
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colon cancer predisposition syndrome in which hundreds to thousands of adenomatous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of colon cancer at a later age than in FAP. Certain extracolonic manifestations, such as gastric and duodenal polyps or cancers, are variably present in attenuated FAP; risk management may be substantially different between FAP and attenuated FAP. GAPPS is characterized by gastric fundic gland polyposis, increased risk of gastric cancer, and limited colonic involvement in most individuals reported.

Recent clinical studies

Etiology

Brown DA, Hance KW, Rogers CJ, Sansbury LB, Albert PS, Murphy G, Laiyemo AO, Wang Z, Cross AJ, Schatzkin A, Danta M, Srasuebkul P, Amin J, Law M, Breit SN, Lanza E
Cancer Epidemiol Biomarkers Prev 2012 Feb;21(2):337-46. Epub 2011 Dec 5 doi: 10.1158/1055-9965.EPI-11-0786. PMID: 22144502

Diagnosis

Pujol RM, Casanova JM, Egido R, Pujol J, de Moragas JM
Pediatr Dermatol 1995 Dec;12(4):331-5. PMID: 8747580

Therapy

Brown DA, Hance KW, Rogers CJ, Sansbury LB, Albert PS, Murphy G, Laiyemo AO, Wang Z, Cross AJ, Schatzkin A, Danta M, Srasuebkul P, Amin J, Law M, Breit SN, Lanza E
Cancer Epidemiol Biomarkers Prev 2012 Feb;21(2):337-46. Epub 2011 Dec 5 doi: 10.1158/1055-9965.EPI-11-0786. PMID: 22144502

Prognosis

Brown DA, Hance KW, Rogers CJ, Sansbury LB, Albert PS, Murphy G, Laiyemo AO, Wang Z, Cross AJ, Schatzkin A, Danta M, Srasuebkul P, Amin J, Law M, Breit SN, Lanza E
Cancer Epidemiol Biomarkers Prev 2012 Feb;21(2):337-46. Epub 2011 Dec 5 doi: 10.1158/1055-9965.EPI-11-0786. PMID: 22144502

Clinical prediction guides

Brown DA, Hance KW, Rogers CJ, Sansbury LB, Albert PS, Murphy G, Laiyemo AO, Wang Z, Cross AJ, Schatzkin A, Danta M, Srasuebkul P, Amin J, Law M, Breit SN, Lanza E
Cancer Epidemiol Biomarkers Prev 2012 Feb;21(2):337-46. Epub 2011 Dec 5 doi: 10.1158/1055-9965.EPI-11-0786. PMID: 22144502

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