About: Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome

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About: Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Muir-Torre syndrome (MTS), a rare variant of the hereditary non polyposis colorectal cancer syndrome, is an autosomal dominant genodermatosis characterised by coincidence of sebaceous gland neoplasms (sebaceous adenoma, epithelioma, or carcinoma) and at least one internal malignancy. The underlying cause of MTS is a germline mutation in DNA mismatch repair genes MSH2, MLH1 and MSH6. We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c. 2194A>T in the last exon of MLH1 gene, resulting in truncated protein in C-terminal region p. Lys732X due to premature stop codon. This mutation, not previously reported in MTS, disrupts the function of MutL complexes presumably by preventing the interaction with PMS1/PMS2 and impairing the endonuclease active site. This case points out the importance of sebaceous neoplasia, especially sebaceous adenocarcinoma, as cutaneous markers of MTS for timely implementation of cancer screening programs. Muir-Torre syndrome (MTS), a rare variant of the hereditary non polyposis colorectal cancer syndrome, is an autosomal dominant genodermatosis characterised by coincidence of sebaceous gland neoplasms (sebaceous adenoma, epithelioma, or carcinoma) and at least one internal malignancy. The underlying cause of MTS is a germline mutation in DNA mismatch repair genes MSH2, MLH1 and MSH6. We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c. 2194A>T in the last exon of MLH1 gene, resulting in truncated protein in C-terminal region p. Lys732X due to premature stop codon. This mutation, not previously reported in MTS, disrupts the function of MutL complexes presumably by preventing the interaction with PMS1/PMS2 and impairing the endonuclease active site. This case points out the importance of sebaceous neoplasia, especially sebaceous adenocarcinoma, as cutaneous markers of MTS for timely implementation of cancer screening programs. (en)
Title	Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome (en)
skos:prefLabel	Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome (en)
skos:notation	RIV/00216208:11120/14:43908878!RIV15-MSM-11120___
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	8
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Kment, M. Švec, Jiří Mandys, Václav
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	Univerzita Karlova v Praze / 3. lékařská fakulta
http://linked.open...dnocenehoVysledku	48905
http://linked.open...ai/riv/idVysledku	RIV/00216208:11120/14:43908878
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	sebaceous adenocarcinoma; gastric cancer; germline mutation; MLH1; Muir-Torre syndrome (en)
http://linked.open.../riv/klicoveSlovo	gastric cancer MLH1 germline mutation sebaceous adenocarcinoma Muir-Torre syndrome
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[6E94A800155E]
http://linked.open...i/riv/nazevZdroje	International Journal of Clinical and Experimental Pathology
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	7
http://linked.open...iv/tvurceVysledku	Švec, Jiří Mandys, Václav Kment, Milan
http://linked.open...ain/vavai/riv/wos	000345120900069
issn	1936-2625
number of pages	7 (xsd:int)
http://localhost/t...ganizacniJednotka	11120

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