Nová zárodečná mutace v CYLD genu u slovenského pacienta s Brookeovým-Spieglerovým syndromem
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Denisa Kacerovská 1,2; Zoltán Szép 3; Lucka Kolláriková 4; Tomáš Vaneček 2; Michal Michal 1,2; Dušan Daniš 3; Dmitry Kazakov 1,2
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Šikl’s Department of Pathology, Charles University in Prague, Medical Faculty in Pilsen, Pilsen, Czech Republic
1; Bioptical Laboratory, Pilsen, Czech Republic
2; Cytopathos Laboratory, Bratislava, Slovak Republic
3; Department of Dermatology and Venereology, Comenius University Medical Faculty Hospital, Bratislava, Slovak Republic
4
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Čes.-slov. Patol., 49, 2013, No. 2, p. 89-92
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Original Article
Autoři prezentují případ 64 leté ženy s Brookeovým-Spieglerovým syndromem s mnohočetnými kožními noduly a tumory lokalizovanými ve kštici. Histopatologické vyšetření projevu z periaurikulární krajiny odhalilo typický obraz cylindromu. V některých nádorových uzlech mohla být navíc detekována duktální diferenciace a příležitostně i přítomnost dvouřadých žlázek složených z tmavých bazálních/myoepitelálních buněk uložených periferně a luminálních mucinózních buněk. Místy byla detekována apokrinní sekrece. Molekulárně-biologická studie genu CYLD provedená z periferní krve prokázala mutaci v sestřihovém místě c.2041+1 G>T. Jedná se o zcela novou zárodečnou mutaci genu CYLD poprvé popsanou u slovenského pacienta s Brookeovým-Spieglerovým syndromem, která tak rozšiřuje spektrum dosud známých zárodečných mutací u tohoto onemocnění.
Klíčová slova:
adnexální tumory – Brookeův-Spieglerův syndrom – CYLD – cylindrom – apokrinní sekrece – bazocelulární karcinom
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Czecho-Slovak Pathology
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