A Clinicopathologic and Molecular Biologic Study of Patients Presenting With Few Adnexal Tumors (Two to Four) From the Morphological Spectrum of Brooke-Spiegler Syndrome

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F13%3A10138926" target="_blank" >RIV/00216208:11140/13:10138926 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1097/DAD.0b013e318255dd37" target="_blank" >http://dx.doi.org/10.1097/DAD.0b013e318255dd37</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/DAD.0b013e318255dd37" target="_blank" >10.1097/DAD.0b013e318255dd37</a>

Jazyk výsledku

angličtina

Název v původním jazyce

A Clinicopathologic and Molecular Biologic Study of Patients Presenting With Few Adnexal Tumors (Two to Four) From the Morphological Spectrum of Brooke-Spiegler Syndrome

Popis výsledku v původním jazyce

We report 11 individuals, each presenting with few (2-4) adnexal neoplasms histologically confirmed as belonging to the spectrum of lesions typical for Brooke-Spiegler syndrome (BSS) and/or multiple familial trichoepitheliomas. These include spiradenoma,cylindroma, spiradenocylindroma, and trichoblastoma variants. Our objective was to clarify whether this is merely a sporadic, albeit unusual, occurrence of multiple neoplasms in these patients or whether they are related to BSS and its phenotypic variant, multiple familial trichoepithelioma. Six patients presented with 2 neoplasms, 4 had 3 lesions and the last had 4 lesions. In none was there any family history of similar lesions. The 28 neoplasms consisted of 7 spiradenomas, 6 cylindromas, 5 spiradenocylindromas, and 11 trichoblastomas (6 trichoepitheliomas and 5 with mixed patterns). In 1 patient only with 2 spiradenomas, both tumors harbored identical CYLD sequence alterations (c. 1112C>A/S371X) in the CYLD gene and both showed loss

Název v anglickém jazyce

A Clinicopathologic and Molecular Biologic Study of Patients Presenting With Few Adnexal Tumors (Two to Four) From the Morphological Spectrum of Brooke-Spiegler Syndrome

Popis výsledku anglicky

We report 11 individuals, each presenting with few (2-4) adnexal neoplasms histologically confirmed as belonging to the spectrum of lesions typical for Brooke-Spiegler syndrome (BSS) and/or multiple familial trichoepitheliomas. These include spiradenoma,cylindroma, spiradenocylindroma, and trichoblastoma variants. Our objective was to clarify whether this is merely a sporadic, albeit unusual, occurrence of multiple neoplasms in these patients or whether they are related to BSS and its phenotypic variant, multiple familial trichoepithelioma. Six patients presented with 2 neoplasms, 4 had 3 lesions and the last had 4 lesions. In none was there any family history of similar lesions. The 28 neoplasms consisted of 7 spiradenomas, 6 cylindromas, 5 spiradenocylindromas, and 11 trichoblastomas (6 trichoepitheliomas and 5 with mixed patterns). In 1 patient only with 2 spiradenomas, both tumors harbored identical CYLD sequence alterations (c. 1112C>A/S371X) in the CYLD gene and both showed loss

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FP - Ostatní lékařské obory

OECD FORD obor

—

Projekt

<a href="/cs/project/NS9734" target="_blank" >NS9734: Morfologie a genetika Brookeova-Spieglerova syndromu</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

American Journal of Dermatopathology

ISSN

0193-1091

e-ISSN

—

Svazek periodika

35

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

19-24

Kód UT WoS článku

000314103600007

EID výsledku v databázi Scopus

—