Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss
Identifikátory výsledku
Kód výsledku v 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>
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss
Popis výsledku v původním jazyce
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.
Název v anglickém jazyce
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss
Popis výsledku anglicky
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.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30109 - Pathology
Návaznosti výsledku
Projekt
—
Návaznosti
S - Specificky vyzkum na vysokych skolach
Ostatní
Rok uplatnění
2017
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
The American Journal of Dermatopathology
ISSN
0193-1091
e-ISSN
—
Svazek periodika
39
Číslo periodika v rámci svazku
10
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
2
Strana od-do
793-794
Kód UT WoS článku
000411287400020
EID výsledku v databázi Scopus
2-s2.0-85009812152