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A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib
V. Baur, T. Papadopoulos, DV. Kazakov, A. Agaimy, A. Hartmann, G. Isbary, RM. Wirtz, ES. Schultz,
Jazyk angličtina Země Německo
Typ dokumentu kazuistiky, časopisecké články
Medline Complete (EBSCOhost) od 2011-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest) od 2003-01-01 do Před 1 rokem
Health & Medicine (ProQuest) od 2003-01-01 do Před 1 rokem
Odkazy
PubMed
29934657
DOI
10.1007/s00428-018-2397-y
Knihovny.cz E-zdroje
- MeSH
- anilidy terapeutické užití MeSH
- antitumorózní látky terapeutické užití MeSH
- dědičné nádorové syndromy farmakoterapie genetika metabolismus patologie MeSH
- dědičnost MeSH
- deubikvitinizační enzym CYLD genetika MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory kůže farmakoterapie genetika metabolismus patologie MeSH
- nesmyslný kodon MeSH
- počítačová rentgenová tomografie MeSH
- protein Gli1 genetika metabolismus MeSH
- pyridiny terapeutické užití MeSH
- rodokmen MeSH
- signální transdukce účinky léků MeSH
- upregulace MeSH
- výsledek terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
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 Gli1 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.
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- $a Baur, Vera $u Department of Dermatology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90419, Nürnberg, Germany.
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- $a A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib / $c V. Baur, T. Papadopoulos, DV. Kazakov, A. Agaimy, A. Hartmann, G. Isbary, RM. Wirtz, ES. Schultz,
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- $a 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 Gli1 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.
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- $a Papadopoulos, Thomas $u Institute of Pathology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90482, Nuremberg, Germany.
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- $a Kazakov, Dmitry V $u Department of Pathology, Medical Faculty in Pilsen, Charles University Prague, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
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- $a Agaimy, Abbas $u Institute of Pathology, Friedrich Alexander University, Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.
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- $a Hartmann, Arndt $u Institute of Pathology, Friedrich Alexander University, Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.
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- $a Isbary, Georg $u Roche Pharma-AG, Grenzach-Wyhlen, Emil-Barell Straße 1, 79639, Grenzach, Germany.
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- $a Wirtz, Ralph M $u STRATIFYER Molecular Pathology GmbH, Cologne and Institute of Pathology, St. Elisabeth Hospital, Cologne, Werthmannstraße 1, 50935, Cologne, Germany.
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- $a Schultz, Erwin S $u Department of Dermatology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90419, Nürnberg, Germany. Erwin.Schultz@klinikum-nuernberg.de.
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