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Statements

Subject Item
n2:RIV%2F00216208%3A11120%2F14%3A43908878%21RIV15-MSM-11120___
rdf:type
n13:Vysledek skos:Concept
dcterms: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.
dcterms: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
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
skos:notation
RIV/00216208:11120/14:43908878!RIV15-MSM-11120___
n4:aktivita
n7:I
n4:aktivity
I
n4:cisloPeriodika
8
n4:dodaniDat
n6:2015
n4:domaciTvurceVysledku
n12:4455991 n12:7449186 n12:7553498
n4:druhVysledku
n8:J
n4:duvernostUdaju
n17:S
n4:entitaPredkladatele
n5:predkladatel
n4:idSjednocenehoVysledku
48905
n4:idVysledku
RIV/00216208:11120/14:43908878
n4:jazykVysledku
n10:eng
n4:klicovaSlova
sebaceous adenocarcinoma; gastric cancer; germline mutation; MLH1; Muir-Torre syndrome
n4:klicoveSlovo
n9:germline%20mutation n9:sebaceous%20adenocarcinoma n9:gastric%20cancer n9:MLH1 n9:Muir-Torre%20syndrome
n4:kodStatuVydavatele
US - Spojené státy americké
n4:kontrolniKodProRIV
[6E94A800155E]
n4:nazevZdroje
International Journal of Clinical and Experimental Pathology
n4:obor
n11:FD
n4:pocetDomacichTvurcuVysledku
3
n4:pocetTvurcuVysledku
7
n4:rokUplatneniVysledku
n6:2014
n4:svazekPeriodika
7
n4:tvurceVysledku
Mandys, Václav Kment, Milan Švec, Jiří
n4:wos
000345120900069
s:issn
1936-2625
s:numberOfPages
7
n14:organizacniJednotka
11120