-
Je něco špatně v tomto záznamu ?
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.
- 000
- 00000naa a2200000 a 4500
- 001
- bmc19028356
- 003
- CZ-PrNML
- 005
- 20190819094836.0
- 007
- ta
- 008
- 190813s2018 gw f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1007/s00428-018-2397-y $2 doi
- 035 __
- $a (PubMed)29934657
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a gw
- 100 1_
- $a Baur, Vera $u Department of Dermatology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90419, Nürnberg, Germany.
- 245 12
- $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,
- 520 9_
- $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.
- 650 _2
- $a anilidy $x terapeutické užití $7 D000813
- 650 _2
- $a antitumorózní látky $x terapeutické užití $7 D000970
- 650 _2
- $a nesmyslný kodon $7 D018389
- 650 _2
- $a deubikvitinizační enzym CYLD $x genetika $7 D000074749
- 650 _2
- $a genetická predispozice k nemoci $7 D020022
- 650 _2
- $a dědičnost $7 D040941
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a imunohistochemie $7 D007150
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a dědičné nádorové syndromy $x farmakoterapie $x genetika $x metabolismus $x patologie $7 D009386
- 650 _2
- $a rodokmen $7 D010375
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a pyridiny $x terapeutické užití $7 D011725
- 650 _2
- $a signální transdukce $x účinky léků $7 D015398
- 650 _2
- $a nádory kůže $x farmakoterapie $x genetika $x metabolismus $x patologie $7 D012878
- 650 _2
- $a počítačová rentgenová tomografie $7 D014057
- 650 _2
- $a výsledek terapie $7 D016896
- 650 _2
- $a upregulace $7 D015854
- 650 _2
- $a protein Gli1 $x genetika $x metabolismus $7 D000071676
- 655 _2
- $a kazuistiky $7 D002363
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Papadopoulos, Thomas $u Institute of Pathology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90482, Nuremberg, Germany.
- 700 1_
- $a Kazakov, Dmitry V $u Department of Pathology, Medical Faculty in Pilsen, Charles University Prague, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
- 700 1_
- $a Agaimy, Abbas $u Institute of Pathology, Friedrich Alexander University, Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.
- 700 1_
- $a Hartmann, Arndt $u Institute of Pathology, Friedrich Alexander University, Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.
- 700 1_
- $a Isbary, Georg $u Roche Pharma-AG, Grenzach-Wyhlen, Emil-Barell Straße 1, 79639, Grenzach, Germany.
- 700 1_
- $a Wirtz, Ralph M $u STRATIFYER Molecular Pathology GmbH, Cologne and Institute of Pathology, St. Elisabeth Hospital, Cologne, Werthmannstraße 1, 50935, Cologne, Germany.
- 700 1_
- $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.
- 773 0_
- $w MED00004660 $t Virchows Archiv : an international journal of pathology $x 1432-2307 $g Roč. 473, č. 2 (2018), s. 241-246
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/29934657 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20190813 $b ABA008
- 991 __
- $a 20190819095110 $b ABA008
- 999 __
- $a ok $b bmc $g 1433505 $s 1066816
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2018 $b 473 $c 2 $d 241-246 $e 20180622 $i 1432-2307 $m Virchows Archiv $n Virchows Arch $x MED00004660
- LZP __
- $a Pubmed-20190813
