A report on Familial adenomatous polyposis

Endoscopic image of sigmoid colon of patient with familial adenomatous polyposis
CHRPE - Congenital hypertrophy of the retinal pigment epithelium
Micrograph of a tubular adenoma, the colorectal cancer precursor most commonly associated with FAP
Colectomy specimen showing numerous polyps throughout the large bowel

Autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine.

- Familial adenomatous polyposis
Endoscopic image of sigmoid colon of patient with familial adenomatous polyposis

19 related topics with Alpha

Overall

Location and appearance of two example colorectal tumors

Colorectal cancer

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Development of cancer from the colon or rectum (parts of the large intestine).

Development of cancer from the colon or rectum (parts of the large intestine).

Location and appearance of two example colorectal tumors
Longitudinally opened freshly resected colon segment showing a cancer and four polyps. Plus a schematic diagram indicating a likely field defect (a region of tissue that precedes and predisposes to the development of cancer) in this colon segment. The diagram indicates sub-clones and sub-sub-clones that were precursors to the tumors.
Colon cancer with extensive metastases to the liver
Relative incidence of various histopathological types of colorectal cancer. The vast majority of colorectal cancers are adenocarcinomas.
Micrograph of colorectal adenocarcinoma, showing "dirty necrosis".
A diagram of a local resection of early stage colon cancer
A diagram of local surgery for rectal cancer
Colon and rectum cancer deaths per million persons in 2012

Some of the inherited genetic disorders that can cause colorectal cancer include familial adenomatous polyposis and hereditary non-polyposis colon cancer; however, these represent less than 5% of cases.

Gardner's syndrome

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Gardner syndrome has an autosomal dominant pattern of inheritance.

Gardner's syndrome (also known as Gardner syndrome, familial polyposis of the colon, or familial colorectal polyposis ) is a subtype of familial adenomatous polyposis (FAP).

A coronal CT scan showing a malignant mesothelioma
Legend: → tumor ←, ✱ central pleural effusion, 1 & 3 lungs, 2 spine, 4 ribs, 5 aorta, 6 spleen, 7 & 8 kidneys, 9 liver

Cancer

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Group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.

Group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.

A coronal CT scan showing a malignant mesothelioma
Legend: → tumor ←, ✱ central pleural effusion, 1 & 3 lungs, 2 spine, 4 ribs, 5 aorta, 6 spleen, 7 & 8 kidneys, 9 liver
Symptoms of cancer metastasis depend on the location of the tumor.
The GHS Hazard pictogram for carcinogenic substances
Share of cancer deaths attributed to tobacco in 2016.
The incidence of lung cancer is highly correlated with smoking.
Cancers are caused by a series of mutations. Each mutation alters the behavior of the cell somewhat.
The central role of DNA damage and epigenetic defects in DNA repair genes in carcinogenesis
Chest X-ray showing lung cancer in the left lung
Three measures of global cancer mortality from 1990 to 2017
Engraving with two views of a Dutch woman who had a tumor removed from her neck in 1689
University of Florida Cancer Hospital
CancerTreeMammal
An invasive ductal carcinoma of the breast (pale area at the center) surrounded by spikes of whitish scar tissue and yellow fatty tissue
An invasive colorectal carcinoma (top center) in a colectomy specimen
A squamous-cell carcinoma (the whitish tumor) near the bronchi in a lung specimen
A large invasive ductal carcinoma in a mastectomy specimen

COX-2 inhibitors may decrease the rate of polyp formation in people with familial adenomatous polyposis; however, it is associated with the same adverse effects as NSAIDs.

Familial Adenomatous Polyposis of the intestine

Adenomatous polyposis coli

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Protein that in humans is encoded by the APC gene.

Protein that in humans is encoded by the APC gene.

Familial Adenomatous Polyposis of the intestine
Overview of signal transduction pathways involved in apoptosis.

Familial adenomatous polyposis (FAP) is caused by an inherited, inactivating mutation in the APC gene.

The simplified structure of beta-catenin.

Catenin beta-1

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Protein that in humans is encoded by the CTNNB1 gene.

Protein that in humans is encoded by the CTNNB1 gene.

The simplified structure of beta-catenin.
Partners competing for the main binding site on the ARM domain of beta-catenin. The auxiliary binding site is not shown.
Simplified structure of the beta-catenin destruction complex. Note the high proportion of intrinsically disordered segments in the axin and APC proteins.
The moonlighting of beta-catenin.
Beta-catenin level regulation and cancer.

Therefore, genetic mutation of the APC gene is also strongly linked to cancers, and in particular colorectal cancer resulting from familial adenomatous polyposis (FAP).

Polyp of sigmoid colon as revealed by colonoscopy. Approximately 1 cm in diameter. The polyp was removed by snare cautery.

Colorectal polyp

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Polyp occurring on the lining of the colon or rectum.

Polyp occurring on the lining of the colon or rectum.

Polyp of sigmoid colon as revealed by colonoscopy. Approximately 1 cm in diameter. The polyp was removed by snare cautery.
Incidences and malignancy risks of various types of colorectal polyps.
Microvesicular hyperplastic polyp. H&E stain.
Microvesicular hyperplastic polyp. H&E stain.
Traditional serrated adenoma. H&E stain.
Gross appearance of a colectomy specimen containing two colorectal polyps and one invasive colorectal carcinoma
Micrograph of a tubular adenoma, the most common type of dysplastic polyp in the colon.
Micrograph of a sessile serrated adenoma. H&E stain.
Micrograph of a Peutz–Jeghers colonic polyp – a type of hamartomatous polyp. H&E stain.
Micrograph of a tubular adenoma – dysplastic epithelium (dark purple) on left of image; normal epithelium (blue) on right. H&E stain.
Micrograph of a villous adenoma. These polyps are considered to have a high risk of malignant transformation. H&E stain.
Paris classification of colorectal neoplasms.<ref>{{cite book|title=Colonoscopy and Colorectal Cancer Screening: Future Directions|author=Luis Bujanda Fernández de Piérola, Joaquin Cubiella Fernández, Fernando Múgica Aguinaga, Lander Hijona Muruamendiaraz and Carol Julyssa Cobián Malaver|contribution=Malignant Colorectal Polyps: Diagnosis, Treatment and Prognosis|year=2013|doi=10.5772/52697|isbn=9789535109495}} Creative Commons Attribution 3.0 License</ref>

Familial adenomatous polyposis (FAP)

Polyp of sigmoid colon as revealed by colonoscopy. Approximately 1 cm in diameter. The polyp was removed by snare cautery.

Polyp (medicine)

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Abnormal growth of tissue projecting from a mucous membrane.

Abnormal growth of tissue projecting from a mucous membrane.

Polyp of sigmoid colon as revealed by colonoscopy. Approximately 1 cm in diameter. The polyp was removed by snare cautery.
Micrograph of a Peutz–Jeghers colonic polyp - a type of hamartomatous polyp. H&E stain.
Incidences and malignancy risks of various types of colorectal polyps.<ref>References for diagram are located at: Commons:Template:Pie chart of colorectal polyp etiologies - Source.</ref>
Relative incidences of gastric polyps.<ref>{{cite journal|last1=García-Alonso|first1=Francisco Javier|last2=Martín-Mateos|first2=Rosa María|last3=González-Martín|first3=Juan Ángel|last4=Foruny|first4=José Ramón|last5=Vázquez-Sequeiros|first5=Enrique|last6=Boixeda de Miquel|first6=Daniel|title=Gastric polyps: analysis of endoscopic and histological features in our center|journal=Revista Española de Enfermedades Digestivas|volume=103|issue=8|year=2011|pages=416–420|issn=1130-0108|doi=10.4321/S1130-01082011000800005| pmid=21867351 }}</ref>

Familial adenomatous polyposis

Desmoid tumor as seen on CT scan

Aggressive fibromatosis

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Rare condition.

Rare condition.

Desmoid tumor as seen on CT scan
Desmoid tumor
Desmoid fibromatosis, H&E stain. Banal fibroblasts infiltrate the adjacent tissue in fascicles. Mitoses may be infrequent.

Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP).

Gardner fibroma

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Benign fibroblastic tumor (i.e. a tumor containing fibroblasts, the most common cell type in connective tissue).

Benign fibroblastic tumor (i.e. a tumor containing fibroblasts, the most common cell type in connective tissue).

In the majority of cases, GF tumors are manifestations of the genetic disease, familial adenomatous polyposis (FAP), or its variant, the Gardner syndrome (GS).

Cancers and tumors are caused by a series of mutations. Each mutation alters the behavior of the cell somewhat.

Carcinogenesis

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Formation of a cancer, whereby normal cells are transformed into cancer cells.

Formation of a cancer, whereby normal cells are transformed into cancer cells.

Cancers and tumors are caused by a series of mutations. Each mutation alters the behavior of the cell somewhat.
The central role of DNA damage and epigenetic defects in DNA repair genes in carcinogenesis
Longitudinally opened freshly resected colon segment showing a cancer and four polyps. Plus a schematic diagram indicating a likely field defect (a region of tissue that precedes and predisposes to the development of cancer) in this colon segment. The diagram indicates sub-clones and sub-sub-clones that were precursors to the tumors.
Tissue can be organized in a continuous spectrum from normal to cancer.
Many tumor suppressor genes effect signal transduction pathways that regulate apoptosis, also known as "programmed cell death".
Multiple mutations in cancer cells

Other inherited tumor suppressor gene syndromes include Rb mutations, linked to retinoblastoma, and APC gene mutations, linked to adenopolyposis colon cancer.