About: A novel germline mutation in the CYLD gene in a slovak patient with Brooke-Spiegler syndrome

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About: A novel germline mutation in the CYLD gene in a slovak patient with Brooke-Spiegler syndrome Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The authors report a 64-year-old female with Brooke-Spiegler syndrome who presented with multiple cutaneous nodules and tumors mostly involving the scalp. Histopathological examination of one of the lesions located in a periauricular area revealed a typical cylindroma. In some neoplastic nodules ductal differentiation and occasional bilayered glands composed of the dark abluminal basal/myoepithelial cells and luminal mucinous cells might be recognized. Apocrine secretion was focally noted. Molecular biologic study of the CYLD gene performed from the peripheral blood identified a novel splice site c.2041+1 G>T mutation. This new germline mutation in the CYLD gene of a Slovak patient with Brooke-Spiegler syndrome extends the catalogue of known CYLD germline mutations in this condition. The authors report a 64-year-old female with Brooke-Spiegler syndrome who presented with multiple cutaneous nodules and tumors mostly involving the scalp. Histopathological examination of one of the lesions located in a periauricular area revealed a typical cylindroma. In some neoplastic nodules ductal differentiation and occasional bilayered glands composed of the dark abluminal basal/myoepithelial cells and luminal mucinous cells might be recognized. Apocrine secretion was focally noted. Molecular biologic study of the CYLD gene performed from the peripheral blood identified a novel splice site c.2041+1 G>T mutation. This new germline mutation in the CYLD gene of a Slovak patient with Brooke-Spiegler syndrome extends the catalogue of known CYLD germline mutations in this condition. (en)
Title	A novel germline mutation in the CYLD gene in a slovak patient with Brooke-Spiegler syndrome A novel germline mutation in the CYLD gene in a slovak patient with Brooke-Spiegler syndrome (en)
skos:prefLabel	A novel germline mutation in the CYLD gene in a slovak patient with Brooke-Spiegler syndrome A novel germline mutation in the CYLD gene in a slovak patient with Brooke-Spiegler syndrome (en)
skos:notation	RIV/00669806:_____/13:10139625!RIV14-MZ0-00669806
http://linked.open...avai/predkladatel	Fakultní nemocnice Plzeň
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Vaněček, Tomáš Kazakov, Dmitry Kacerovská, Denisa Michal, Michal
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 Plzeň
http://linked.open...dnocenehoVysledku	58905
http://linked.open...ai/riv/idVysledku	RIV/00669806:_____/13:10139625
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	basal cell carcinoma; apocrine secretion; cylindroma; CYLD; Brooke-Spiegler syndrome; adnexal neoplasms (en)
http://linked.open.../riv/klicoveSlovo	CYLD apocrine secretion cylindroma Brooke-Spiegler syndrome basal cell carcinoma adnexal neoplasms
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[4164E26327AD]
http://linked.open...i/riv/nazevZdroje	Česko-slovenská patologie a Soudní lékařství
http://linked.open...in/vavai/riv/obor	FP
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	49
http://linked.open...iv/tvurceVysledku	Kacerovská, Denisa Kazakov, Dmitry Michal, Michal Vaněček, Tomáš Daniš, Dušan Kolláriková, Lucka Szép, Zoltán
issn	1210-7875
number of pages	4 (xsd:int)

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