Gastrointestinal Inherited Polyposis Syndromes

Bronner, Mary P.

doi:10.1097/01.mp.0000062992.54036.e4

Cited by 34 publications

(90 citation statements)

References 50 publications

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“…FAP is associated with an essentially 100% lifetime risk of colorectal carcinoma at an average age of 39 years [1,5,6]. The age of polyposis diagnosis is variable but adenomas are usually present by the second decade of life and the majority of patients have developed polyps by the fourth decade of life [1,3]. FAP and the variants have a range of different extracolonic manifestations but all have adenomatous polyps within the gastrointestinal tract [1,3].…”

Section: Familial Adenomatous Polyposis (Fap) and Variantsmentioning

confidence: 99%

“…Familial adenomatous polyposis (FAP) and its variants are the prototypical adenomatous polyposis syndromes and are all phenotypic variants of a single autosomal dominant disorder due to germline mutations in the adenomatous polyposis coli (APC) gene [3]. FAP accounts for less than 1% of all colorectal cancers and has an incidence of 1/8,000 to 1/10,000 live births [4][5][6][7].…”

Section: Familial Adenomatous Polyposis (Fap) and Variantsmentioning

confidence: 99%

“…Recently, a new type of polyposis syndrome has been defined and is associated with various types of serrated polyps [2]. Almost all of these syndromes have an increased risk of colorectal cancer and most are associated with an increased risk of a variety of extracolonic tumors, both benign and malignant [1,[3][4][5][6][7][8]. This is a rapidly evolving field with some entities being redefined, some entities having their genetic basis unraveled, and new entities emerging among the polyposis syndromes.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Hereditary Gastrointestinal Polyposis Syndromes: A Review Including Newly Identified Syndromes

Huber

Findeis‐Hosey²,

Whitney-Miller³

2013

J Gastroint Dig Syst

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Section: Familial Adenomatous Polyposis (Fap) and Variantsmentioning

confidence: 99%

Section: Familial Adenomatous Polyposis (Fap) and Variantsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Hereditary Gastrointestinal Polyposis Syndromes: A Review Including Newly Identified Syndromes

Huber

Findeis‐Hosey²,

Whitney-Miller³

2013

J Gastroint Dig Syst

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“…18 Upper and lower endoscopy should be performed every 2 years. 19 Removal is advised for symptomatic polyps or for those measuring Ͼ1.5 cm in size.…”

Section: Patient Managementmentioning

confidence: 99%

Cutaneous Manifestations of Internal Malignancy

Thiers¹,

Sahn²,

Callen³

2009

CA: A Cancer Journal for Clinicians

127

107

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The skin often mirrors changes in the organism it envelops. Many neoplastic diseases that affect internal organs display cutaneous manifestations, which may be the presenting signs and symptoms of the underlying malignancy. These may reflect direct involvement of the skin by the tumor (ie, tumor metastasis) or indirect involvement, in which changes in the skin occur in the absence of malignant cells. This review focuses on the latter conditions, which are often referred to as paraneoplastic dermatoses. Included in the discussion are the cutaneous manifestations of inherited syndromes that are associated with an increased risk of internal malignancy, cutaneous changes in patients with hormone-secreting tumors, and the wide spectrum of proliferative and inflammatory dermatoses that have been associated with internal cancer. CA Cancer J Clin 2009;59:73-98.

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“…Since an arborizing network of the smooth muscle is one of the typical features of the hamartomas in PJS and Lkb1 þ /À mice Bronner, 2003), we performed immunohistochemistry for a smooth muscle actin (aSMA) in polyps of Lkb1 þ /À and Lkb1…”

mentioning

confidence: 99%

Accelerated onsets of gastric hamartomas and hepatic adenomas/carcinomas in Lkb1+/−p53−/− compound mutant mice

et al. 2005

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Germline mutations in the LKB1 gene are responsible for Peutz-Jeghers syndrome (PJS), which is characterized by gastrointestinal hamartomas and increasing risk of cancer. Mice with Lkb1 þ /À mutation develop gastric hamartomas after >20 weeks of age, and hepatocellular adenomas and carcinomas >30 weeks. It has been reported that, in PJS patients, carcinomas progressed from hamartomas contain p53 mutations, and that LKB1 regulates p53-dependent apoptosis. To investigate the roles of LKB1 and p53 mutations in tumorigenesis, we constructed compound mutant mice of Lkb1 and p53 genes. In the Lkb1À/À mice, formation of gastric hamartomas and hepatic tumors was accelerated. However, histopathology of hamartomas was similar between Lkb1À/À and Lkb1 þ /À mice, and Lkb1 genotype remained heterozygous, suggesting that the p53 mutation affected hamartoma initiation. Contrary to the heterozygous hamartomas in the stomach and duodenum, the hepatic adenomas in Lkb1 þ /À p53 À/À mice showed loss of Lkb1 heterozygosity (LOH), suggesting that lack of p53 stimulated Lkb1 LOH and tumor initiation in the liver. Taken together, these results indicate that lack of p53 causes earlier onsets of gastric hamartomas and hepatic tumors in Lkb1À/À mice.

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Gastrointestinal Inherited Polyposis Syndromes

Cited by 34 publications

References 50 publications

Hereditary Gastrointestinal Polyposis Syndromes: A Review Including Newly Identified Syndromes

Hereditary Gastrointestinal Polyposis Syndromes: A Review Including Newly Identified Syndromes

Cutaneous Manifestations of Internal Malignancy

Accelerated onsets of gastric hamartomas and hepatic adenomas/carcinomas in Lkb1+/−p53−/− compound mutant mice

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