Universität zu Köln

Baur, Vera, Papadopoulos, Thomas, Kazakov, Dmitry, V, Agaimy, Abbas, Hartmann, Arndt, Isbary, Georg, Wirtz, Ralph M. and Schultz, Erwin S. (2018). A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib. Virchows Arch., 473 (2). S. 241 - 247. NEW YORK: SPRINGER. ISSN 1432-2307

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Baur, Vera UNSPECIFIED UNSPECIFIED UNSPECIFIED Papadopoulos, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Kazakov, Dmitry, V UNSPECIFIED UNSPECIFIED UNSPECIFIED Agaimy, Abbas UNSPECIFIED UNSPECIFIED UNSPECIFIED Hartmann, Arndt UNSPECIFIED UNSPECIFIED UNSPECIFIED Isbary, Georg UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirtz, Ralph M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schultz, Erwin S. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-178703
DOI:	10.1007/s00428-018-2397-y
Journal or Publication Title:	Virchows Arch.
Volume:	473
Number:	2
Page Range:	S. 241 - 247
Date:	2018
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1432-2307
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BROOKE-SPIEGLER-SYNDROME; TRICHOBLASTIC CARCINOMA; SOMATIC-MUTATIONS; CYLD GENE; CYLINDROMATOSIS Multiple languages Pathology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/17870