About: Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report

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About: Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.biomedcentral.com/content/pdf/1471-2350-12-38.pdf
Description	Cowden syndrome (CS) is a cancer predisposition syndrome associated with increased risk of breast, thyroid, and endometrial cancers, and is characterized by development of benign mucocutaneous lesions. Here we report on a 58-year-old women with multiple primary malignancies and subtle mucocutaneous lesions such as small polyps and wart-like papulas. Over a period of 23 years, she developed various malignant neoplasms including thyroid, ovarian, stomach, and colon carcinomas, and a benign maningioma. Direct sequencing analysis of the PTEN gene revealed a novel germline mutation (c.438delT, p.Leu146X). This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors. Cowden syndrome (CS) is a cancer predisposition syndrome associated with increased risk of breast, thyroid, and endometrial cancers, and is characterized by development of benign mucocutaneous lesions. Here we report on a 58-year-old women with multiple primary malignancies and subtle mucocutaneous lesions such as small polyps and wart-like papulas. Over a period of 23 years, she developed various malignant neoplasms including thyroid, ovarian, stomach, and colon carcinomas, and a benign maningioma. Direct sequencing analysis of the PTEN gene revealed a novel germline mutation (c.438delT, p.Leu146X). This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors. (en)
Title	Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report (en)
skos:prefLabel	Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report (en)
skos:notation	RIV/00179906:_____/11:10105357!RIV12-MZ0-00179906
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	March
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Šenkeříková, Mária
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Hradec Králové
http://linked.open...dnocenehoVysledku	214319
http://linked.open...ai/riv/idVysledku	RIV/00179906:_____/11:10105357
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	will; pathway; hamartoma; disease; PTEN/MMAC1 gene; germline mutations; gastrointestinal polyposis; syndrome please stand (en)
http://linked.open.../riv/klicoveSlovo	pathway germline mutations will PTEN/MMAC1 gene gastrointestinal polyposis hamartoma syndrome please stand disease
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[6E58F8690AA0]
http://linked.open...i/riv/nazevZdroje	BMC Medical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	12
http://linked.open...iv/tvurceVysledku	Šenkeříková, Mária Hatlová, Jana Křepelová, Anna Vasovčák, Peter
http://linked.open...ain/vavai/riv/wos	000288855300001
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1471-2350
number of pages	4 (xsd:int)
http://bibframe.org/vocab/doi	10.1186/1471-2350-12-38

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