Regression of melanoma metastases and multiple non-melanoma skin cancers in xeroderma pigmentosum by the PD1-antibody pembrolizumab

Xeroderma pigmentosum (XP) is a rare autosomal-recessive disorder caused by defects in the nucleotide excision repair, a DNA repair system which is responsible for removing DNA damage induced by ultraviolet radiation. Consequently XP patients suffer from multiple skin tumours mostly non-melanoma ski...

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Bibliographic Details
Published in:European journal of cancer (1990) 2017-05, Vol.77, p.84-87
Main Authors: Hauschild, Axel, Eichstaedt, Julia, Möbus, Lena, Kähler, Katharina, Weichenthal, Michael, Schwarz, Thomas, Weidinger, Stephan
Format: Article
Language:English
Subjects:
Antibodies, Monoclonal, Humanized - therapeutic use
Basal cell carcinoma
Deoxyribonucleic acid
DNA
DNA damage
DNA repair
Genetic disorders
Hematology, Oncology and Palliative Medicine
Hereditary diseases
Humans
Immunotherapy
Male
Melanoma
Melanoma - drug therapy
Melanoma - pathology
Metastases
Middle Aged
Monoclonal antibodies
Neoplasm Metastasis
Neoplasms, Multiple Primary - drug therapy
Neoplasms, Multiple Primary - pathology
Nucleotide excision repair
PD-1 protein
Programmed Cell Death 1 Receptor - antagonists & inhibitors
Programmed Cell Death 1 Receptor - immunology
Radiation damage
Remission Induction
Repair
Skin cancer
Skin Neoplasms - drug therapy
Skin Neoplasms - pathology
Squamous cell carcinoma
Surgery
Targeted cancer therapy
Treatment Outcome
Tumor Burden - drug effects
Tumors
Ultraviolet radiation
Xeroderma pigmentosum
Xeroderma Pigmentosum - complications
Xeroderma Pigmentosum - drug therapy
Xeroderma Pigmentosum - pathology
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Summary:Xeroderma pigmentosum (XP) is a rare autosomal-recessive disorder caused by defects in the nucleotide excision repair, a DNA repair system which is responsible for removing DNA damage induced by ultraviolet radiation. Consequently XP patients suffer from multiple skin tumours mostly non-melanoma skin cancers (NMSC) including squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), but also though less frequently malignant melanomas (MMs). Surgical A 51-year old patient developed multiple skin tumours preferentially BCCs since the age of 13 years. Several years ago the diagnosis of XP, complementation type E was made by another university hospital in Germany. This extremely rare subtype of XP develops in addition to SCCs preferentially BCCs, but carries also a higher risk for MM. Over the last decades, several hundred skin tumours, predominantly BCCs, but also SCCs, Bowen's diseases and actinic keratoses developed in the sun-exposed skin areas and were sequentially surgically removed.
ISSN:0959-8049
1879-0852
DOI:10.1016/j.ejca.2017.02.026