Muir-Torre Syndrome: A Case for Surveillance of the Ampulla of Vater

Matthews, Jon; Roberts, Rene; O’Reilly, Derek; Schick, Stefan; An, Ke

doi:10.1159/000052010

Cited by 15 publications

(7 citation statements)

References 5 publications

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“…Neurofibromatosis type I seems to be a predisposition not only for somatostatinomas of the papilla of Vater but also for ampullary carcinomas 16. The finding of two ampullary carcinomas in 205 reported cases of Muir‐Torre syndrome, a condition characterized by the association of multiple sebaceous tumors and kerato‐acanthomas with internal malignancies, suggests a higher prevalence in this syndrome than in the general population 17. In FAP, the ampullary region is the second hot spot for carcinomas after the colorectum.…”

Section: Carcinoma Of the Papilla Of Vatermentioning

confidence: 99%

“…16 The finding of two ampullary carcinomas in 205 reported cases of Muir-Torre syndrome, a condition characterized by the association of multiple sebaceous tumors and kerato-acanthomas with internal malignancies, suggests a higher prevalence in this syndrome than in the general population. 17 In FAP, the ampullary region is the second hot spot for carcinomas after the colorectum. Ampullary carcinomas in FAP usually arise later than colorectal carcinomas, but at a mean age of 45 years, much earlier than that for sporadic ampullary carcinomas.…”

Section: Predisposition and Incidencementioning

confidence: 99%

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Pathogenesis of carcinoma of the papilla of Vater

Fischer

Zhou

2004

J Hepatobiliary Pancreat Surg

180

125

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Most adenomas and carcinomas of the small intestine and extrahepatic bile ducts arise in the region of the papilla of Vater. In familial adenomatous polyposis (FAP) it is the main location for carcinomas after proctocolectomy. In many cases symptoms due to stenosis lead to diagnosis at an early tumor stage. In about 80%, curative intended resection is possible. Operability is the most relevant prognostic factor. Most ampullary carcinomas resp. carcinomas of the papilla of Vater develop from adenomatous or flat dysplastic precursor lesions. They can be sited in the ampulloduodenal part of the papilla of Vater, which is lined by intestinal mucosa. They also can develop in deeper parts of the ampulla, which are lined by pancreaticobiliary duct mucosa. Intestinal-type adenocarcinoma and pancreaticobiliary-type adenocarcinoma represent the main histological types of ampullary carcinoma. Furthermore, there exist unusual types and undifferentiated carcinomas. Many carcinomas of intestinal type express the immunohistochemical marker profile of intestinal mucosa (keratin 7-, keratin 20+, MUC2+). Carcinomas of pancreaticobiliary type usually show the immunohistochemical profile of pancreaticobiliary duct mucosa (keratin 7+, keratin 20-, MUC2-). Even poorly differentiated carcinomas, as well as unusual histological types, may conserve the marker profile of the mucosa they developed from. These findings underline the concept of histogenetically different carcinomas of the papilla of Vater which develop either from intestinal- or from pancreaticobiliary-type mucosa of the papilla of Vater. Molecular alterations in ampullary carcinomas are similar to those of colorectal as well as pancreatic carcinomas, although they appear at different frequencies. In future studies, molecular alterations in ampullary carcinomas should be correlated closely with the different histologic tumor types. Consequently, the histologic classification should reflect the histogenesis of ampullary tumors from the two different types of papillary mucosa.

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Section: Carcinoma Of the Papilla Of Vatermentioning

confidence: 99%

Section: Predisposition and Incidencementioning

confidence: 99%

Pathogenesis of carcinoma of the papilla of Vater

Fischer

Zhou

2004

J Hepatobiliary Pancreat Surg

180

125

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“…More rarely, other genetic syndromes are also associated with ampullary adenocarcinoma, as Lynch syndrome (hereditary nonpolyposis colorectal cancer-HNPCC), Neurofibromatosis type I and Muir-Torre syndrome [12,15,16]. Histomolecular changes may occur not only at a specific point, but also over the entire exposed mucosa.…”

Section: Carcinoma Of Ampulla Of Vater: Carcinogenesis and Immunophenmentioning

confidence: 99%

Carcinoma of Ampulla of Vater: Carcinogenesis and Immunophenotypic Evaluation

Rosa¹,

Peria²,

Brunaldi³

2017

J Clin Epigenet

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“…MTS is a variant of HNPCC with the majority of germ-line mutations occurring in the MSH2 gene [92]. Several cases of bile-duct and ampullary cancers have been reported in association with MTS [93–95], including a report of a novel missense mutation in the MSH2 gene [93]. Although screening for biliary cancers is not currently practical, it has been suggested that screening for ampullary cancers in MTS patients would have a favorable risk/benefit ratio [95].…”

Section: Hepatobiliary Cancersmentioning

confidence: 99%

Hereditary Pancreatic and Hepatobiliary Cancers

Haddad

Kowdley

Pawlik

et al. 2011

International Journal of Surgical Oncology

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Hereditary etiologies of pancreatic and hepatobiliary cancers are increasingly recognized. An estimated >10% of pancreatic and increasing number of hepatobiliary cancers are hereditary. The cumulative risk of hereditary pancreatic cancer ranges from measurable but negligible in cystic fibrosis to a sobering 70% in cases of hereditary pancreatitis. Candidates for pancreatic cancer surveillance are those with a risk pancreatic cancer estimated to be >10-fold that of the normal population. Screening for pancreatic cancer in high-risk individuals is typically performed by endoscopic ultrasound and should begin at least 10 years prior to the age of the youngest affected relative. Disease states known to be associated with increased risk of hepatocellular cancer include hereditary hemochromatosis, autoimmune hepatitis, porphyria, and α1-antitrypsin deficiency, with relative risks as high as 36-fold. Although much less is known about hereditary bile-duct cancers, Muir-Torre syndrome and bile salt export pump deficiency are diseases whose association with hereditary carcinogenesis is under investigation.

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Muir-Torre Syndrome: A Case for Surveillance of the Ampulla of Vater

Cited by 15 publications

References 5 publications

Pathogenesis of carcinoma of the papilla of Vater

Pathogenesis of carcinoma of the papilla of Vater

Carcinoma of Ampulla of Vater: Carcinogenesis and Immunophenotypic Evaluation

Hereditary Pancreatic and Hepatobiliary Cancers

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