A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F18%3A10384502" target="_blank" >RIV/00216208:11140/18:10384502 - isvavai.cz</a>
Result on the web
<a href="https://link.springer.com/content/pdf/10.1007%2Fs00428-018-2397-y.pdf" target="_blank" >https://link.springer.com/content/pdf/10.1007%2Fs00428-018-2397-y.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00428-018-2397-y" target="_blank" >10.1007/s00428-018-2397-y</a>
Alternative languages
Result language
angličtina
Original language name
A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib
Original language description
Multiple familial trichoepitheliomas (MFT) is an autosomal dominantly inherited disease characterized by multiple skin appendage tumors. We describe a patient showing a continuous spectrum of follicular differentiated neoplasms including classical trichoepitheliomas but also infiltrative growing and finally metastasizing malignant follicular differentiated tumors. Germline mutation analysis revealed a nonsense mutation in the cylindromatosis (CYLD) gene. Gene expression analysis by real-time PCR of tumor tissue showed overexpression of glioma-associated oncogene Glil mRNA. Treatment with the Hedgehog pathway inhibitor vismodegib resulted in a significant regression of the highly differentiated trichoepitheliomas. Gli upregulation is indicative of an active Hedgehog signaling pathway. We hypothesize that its upregulation is indirectly caused by CYLD mutation which promotes tumor development. Vismodegib treatment could thus provide a new treatment option for patients with this debilitating disorder.
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
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Virchows Archiv
ISSN
0945-6317
e-ISSN
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Volume of the periodical
473
Issue of the periodical within the volume
2
Country of publishing house
DE - GERMANY
Number of pages
6
Pages from-to
241-246
UT code for WoS article
000440285100013
EID of the result in the Scopus database
2-s2.0-85048866421