Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F17%3A10365207" target="_blank" >RIV/00216208:11140/17:10365207 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1097/DAD.0000000000000763" target="_blank" >http://dx.doi.org/10.1097/DAD.0000000000000763</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/DAD.0000000000000763" target="_blank" >10.1097/DAD.0000000000000763</a>
Alternative languages
Result language
angličtina
Original language name
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss
Original language description
The BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome region 3p21. Mutations in BAP1 have been demonstrated to increase susceptibility to the development of uveal and cutaneous melanomas, distinctive Spitz nevi, mesothelioma, and loss of BAP1 expression has recently been reported in familial cases of multiple basal cell carcinomas (BCCs) with a germline BAP1 mutation. Our aim was to study BAP1 expression in trichoblastomas, both solitary sporadic and multiple ones, occurring in the setting of multiple familial trichoepithelioma (MFT)/Brooke-Spiegler syndrome (BSS). A total of 35 neoplasms were studied. Of these, 17 cribriform trichoblastomas came from 14 patients with MFT and 1 from BSS and 17 sporadic trichoblastomas. In none of the 35 neoplasms was there loss of BAP1, including a case in which there was malignant transformation of trichoblastoma into BCC.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The American Journal of Dermatopathology
ISSN
0193-1091
e-ISSN
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Volume of the periodical
39
Issue of the periodical within the volume
10
Country of publishing house
US - UNITED STATES
Number of pages
2
Pages from-to
793-794
UT code for WoS article
000411287400020
EID of the result in the Scopus database
2-s2.0-85009812152