Universität zu Köln

Boeckmann, L., Martens, M. C., Kakkassery, V, Heindl, L. M. and Emmert, S. (2020). Molecular genetic investigations as the basis for targeted treatment of basal cell carcinoma of the eye. Ophthalmologe, 117 (2). S. 106 - 113. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1433-0423

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Abstract

Background Basal cell carcinomas are generally the most common malignant human cancers. They grow destructively and invasively into surrounding tissue. Objective The rising incidence of basal cell carcinomas in an aging society demands new, less destructive treatment approaches especially for advanced and difficult to resect basal cell carcinomas at surgically demanding locations, such as those growing or metastasizing on the eyelid. Material and methods New key technologies, such as next generation sequencing (NGS) enable high-throughput genetic analyses of tumors. In this way new knowledge on the molecular genetic pathogenesis of basal cell carcinomas is gained, which enables the development of new targeted treatment of the affected signal pathway. Results In line with the multistep photocarcinogenesis theory, basal cell carcinomas possess a high load of UV-induced gene mutations (75%). Independent of the genesis 85% of basal cell carcinomas harbor activating mutations of the hedgehog signaling pathway. Accordingly, two hedgehog inhibitors for the treatment of difficult to resect or metastasized basal cell carcinomas have been licensed (vismodegib and sonidegib); however, only 60% of patients respond to this treatment. This is due to the high mutational load with 85% of the tumors harboring additional mutations in other signaling pathways. Conclusion Molecular genetic analyses will enable the identification of further targeted therapies for advanced basal cell carcinomas. Due to the high mutational load checkpoint inhibitors (e.g. cemiplimab) are also effective in the treatment of basal cell carcinomas. Nicotinamide and UV protection can reduce the mutational load and hence decrease the risk for tumor development.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Boeckmann, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Martens, M. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kakkassery, V UNSPECIFIED UNSPECIFIED UNSPECIFIED Heindl, L. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Emmert, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-347317
DOI:	10.1007/s00347-019-0905-3
Journal or Publication Title:	Ophthalmologe
Volume:	117
Number:	2
Page Range:	S. 106 - 113
Date:	2020
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1433-0423
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language XERODERMA-PIGMENTOSUM; PHOTOCARCINOGENESIS Multiple languages Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/34731