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

Result code in 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>
Result on the web
<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>

Result language
angličtina
Original language name
A Clinicopathologic and Molecular Biologic Study of Patients Presenting With Few Adnexal Tumors (Two to Four) From the Morphological Spectrum of Brooke-Spiegler Syndrome
Original language description
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
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FP - Other medical fields
OECD FORD branch
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Project
<a href="/en/project/NS9734" target="_blank" >NS9734: Morphology and genetics of Brooke-Spiegler syndrome</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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