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Xeroderma Pigmentosum – Facts and Perspectives JANIN LEHMANN*, CHRISTINA SEEBODE*, MARIE CHRISTINE MARTENS and STEFFEN EMMERT

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Xeroderma Pigmentosum – Facts and Perspectives JANIN LEHMANN*, CHRISTINA SEEBODE*, MARIE CHRISTINE MARTENS and STEFFEN EMMERT ANTICANCER RESEARCH 38 : 1159-1164 (2018) doi:10.21873/anticanres.12335 Review Xeroderma Pigmentosum – Facts and Perspectives JANIN LEHMANN*, CHRISTINA SEEBODE*, MARIE CHRISTINE MARTENS and STEFFEN EMMERT Clinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany Abstract. Ultraviolet (UV)-induced DNA lesions are almost Ultraviolet (UV) light is one of the most common exogenous exclusively removed by the nucleotide excision repair (NER) causes of this sort of DNA damage (3). Patients with pathway, which is essential for prevention of skin cancer xeroderma pigmentosum (XP) have defective NER due to a development. Patients with xeroderma pigmentosum (XP) are gene defect in one of the components involved in this repair extremely sun sensitive due to a genetic defect in components cascade (4). of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably Clinical Symptoms increased risk of developing UV-induced skin cancer. XP belongs to the group of DNA repair defective disorders that Mutations in XP genes result in at least six different clinical are mainly diagnosed in the clinic and in hindsight entities: XP; XP plus neurological symptoms, confirmed at the molecular level. Unfortunately, there are no trichothiodystrophy, XP plus trichothiodystrophy symptoms, causative treatment options for this rare, autosomal- XP plus Cockayne syndrome symptoms, and the cerebro- recessive disorder, emphasizing the importance of an early oculo-facial skeletal syndrome (5). Contrary to common diagnosis. Subsequently, UV-protective measures such as the assumptions, only about 60% of all patients with XP show reduction of exposure to environmental UV and regular skin increased sun sensitivity in the sense of severe dermatitis cancer screenings should be undertaken to substantially solaris after low UV exposure, which is usually the first improve prognosis as well as the disease course. conspicuous XP symptom during the first weeks of life. In 40% of patients with XP, there is no strong sun sensitivity. The human genome is constantly exposed to endo- and An early hyperpigmentation in sun-exposed areas, however, exogenous substances that threaten the integrity of DNA. The is common to all patients. In addition, signs of premature cell has several evolutionarily-conserved mechanisms to aging of the skin, and poikilodermic skin changes, can be protect itself against damage to the genome (1). For this observed as ealy as at the age of 3 to 5 years. Patients with purpose, several repair mechanisms involving more than 130 XP develop basal cell and squamous epithelial cell DNA repair enzymes continuously monitor the DNA looking carcinoma, as well as cutaneous melanoma, with an average for damage (2). The nucleotide excision repair (NER) of 8 years of age (6). In the general population, however, the pathway is the only mechanism that detects and repairs first UV-induced malignancy develops much later, at about damage leading to bulky distortions in the DNA backbone. 60 years of age. In summary, patients with XP have a 10,000-fold increased risk for basal cell and squamous cell carcinomas and a 2,000-fold increased melanoma risk (7). Furthermore, changes occur in UV-exposed areas of the eye *These Authors contributed equally to this article. (conjunctiva, cornea, lens and eyelids). In particular, conjunctivitis, cataract formation and pterygium formation, as Correspondence to: Professor Dr. med. Steffen Emmert, Clinic for well as rare tumors, are more frequently observed (Figure 1) (8). Dermatology and Venereology, University Medical Center Rostock, In 25% of cases, patients with XP also develop Strempelstrasse 13, 18057 Rostock, Germany. Tel: +49 3814949701, neurological symptoms, which can vary greatly in their Fax: +49 3814949702, e-mail: [email protected] severity and time of first appearance. These include Key Words: Xeroderma pigmentosum, nucleotide excision repair, attenuated or missing tendon reflexes, progressive hearing interdisciplinary treatment, clinical and molecular diagnostics, loss, speech and gait disturbances, as well as cognitive review. decline (9). 1159 ANTICANCER RESEARCH 38 : 1159-1164 (2018) Figure 1. Twelve clinical entities and 14 molecular defects show the complex genotype–phenotype correlation of DNA-repair deficiency disorders. Different mutations in various genetic regions of DNA-repair proteins can lead to 12 different clinical entities. Mutations in different genes can result in the same clinical entity. COFS: Cerebro-oculo-facial-skeletal syndrome, CS: Cockayne syndrome, TTD: trichothiodystrophy, UVS: UV- sensitive syndrome, XP: xeroderma pigmentosum. Illustration by Dr. rer. nat. Christina Seebode, modified from (5). Disease-causing Genes and Epidemiology Diagnostics To date seven different XP complementation groups XP-A to DNA-repair defect syndromes are primarily diagnosed in the XP-G, corresponding to the underlying gene defect clinic and confirmed by functional cell-based test systems, (mutations in the genes XPA-XPG ), plus a variant form in as well as genetic sequencing. The diagnosis should be made just under 10% of all patients with XP with a mutation in the as early as possible in order to be able to take separate UV- translational polymerase η gene ( PolH ), have been detected protective measures at an early stage. The diagnosis of (4). These complementation groups occur at different patients with XP requires the cooperation of various clinical frequencies and differ in the severity of the symptoms in specialties such as dermatology, ophthalmology, ear, nose regard to skin cancer development and neurological and throat medicine (otolaryngology), neurology, and involvement (see Table I). The disease is characterized by imaging methods, as well as human genetics (see Figure 2) pleiotropy, meaning that different mutations in a gene result (13). In order to support this interdisciplinary patient care, in the manifestation of several different phenotypic features. our clinic is part of a European Reference Network for Rare Due to the involvement of the XP proteins in various Skin Diseases which was founded with the aim of connecting essential cellular processes, such as DNA repair and expert specialists of different rare skin syndromes to improve transcription, genotype–phenotype correlations are communication, diagnosis, and treatment guidelines. particularly complicated (see Figure 1). XP is an autosomal- Thereby, patients all over Europe, also in the structurally recessive disease and occurs worldwide in all ethnic groups weaker countries, can benefit from the expertise of all and skin types (10). The incidence in the US and Europe is members. For the molecular diagnosis of XP, we apply one in one million. In geographically isolated populations functional DNA-repair assays, gene- and protein-expression such as in North Africa or Japan, the incidence is 10-fold analyses, as well as sequence analyses of the affected genes. higher (11, 12). The first step is the investigation of the post-UV survival of 1160 Lehmann et al : Xeroderma Pigmentosum (Review) Table I. Xeroderma pigmentosum (XP) complementation groups. Depicted in the following table is the frequency of the XP complementation groups, information on skin cancer number, neurological involvement, repair capability, the defective gene (XP genes A to G and polymerase eta) and chromosomal location. Adapted from (13). Complementation Frequency Skin Neurological Cellular repair Defective Chromosome group (%) cancer involvement capability gene XP-A 30 ++ +++ <10% XPA 9q22.3 XP-B 0.5 + + 3-7% XPB/ERCC3 2q21 XP-C 27 ++ + 10-20% XPC 3p25 XP-D 15 ++ +++ 25-50% XPD/RECC2 19q13.2-q13.3 XP-E 1 + – 40-50% DDB1 11q12-q13 XPE-DDB2 11p12-p11 XP-F 2 + - 10-20% XPF/ERCC4 16p13.3 XP-G 1 + ++ <5%; 25% XPG/ERCC5 13q33 XP Variant 23.5 + – 100% Pol H 6p21.1-p12 patient cells by means of a colorimetric assay for assessing For affected families, it is also possible to carry out prenatal cell metabolic activity [3-(4,5-dimethylthiazol-2-yl)-2,5- examinations from chorionic villi DNA, or amniotic fluid in diphenyltetrazolium bromide (MTT) assay]. The patient cells the course of an amniocentesis. Here, knowledge of the can be obtained from blood (lymphocytes) or skin punch disease-causing mutation is helpful sparing fetal DNA. This biopsies (fibroblasts) and are then irradiated with increasing is normally the case as prenatal diagnostics is desired if an UV doses. Without treatment, the cells grow normally but affected child was born in a previous pregnancy. are killed by rising UV dose. Subsequently, cell survival is compared with cells from healthy donors and is usually Therapy clearly reduced in patients with XP. In order to quantify the repair defect and functionally At present, no causative therapy is available for patients with identify the mutated gene of the patient (without XP, which is why early diagnosis is of utmost importance. sequencing), the host cell reactivation (HCR) assay, a Immediately, strict and consistent sun protection and regular reporter gene assay or the so-called unscheduled DNA examination of the skin with treatment of pre-malignant synthesis assay are used (4, 14). In the HCR test, the repair lesions in the course of examinations for the early detection of a UVC-irradiated plasmid, and thus the NER capability, of skin cancer (quarterly) should be initiated. is investigated. The complementation groups can be Sun protection requires a broad avoidance of sun
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