Clinical Features, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center Experience
9 affiliations
- 1N.N. Blokhin National Medical Research Center of Oncology, 115478 Moscow, Russia
- 2Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences, 119991 Moscow, Russia
- 3Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia
- 4Research Center for Medical Genetics, 115522 Moscow, Russia
- 5Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, 125412 Moscow, Russia
- 6Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University, 119571 Moscow, Russia
- 7Department of Oncology, Sechenov First Moscow State Medical University, 119048 Moscow, Russia
- 8National Medical Research Radiological Center of the Ministry of Health of the Russian Federation, 125284 Moscow, Russia
- 9Department of Oncology, Radiation Therapy and Radiology named after Professor N.E. Yakhontov, Privolzhsky Research Medical University, 603005 Nizhny Novgorod, Russia
Abstract
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare autosomal recessive DNA repair disorders. XP is characterized by extreme sensitivity to UV radiation and a very high risk of skin cancer. To date, little is known about the clinical characteristics and genetic basis of these diseases in Russia. Here, we present a detailed study of 14 patients (aged 6–30 years) from 11 unrelated families of diverse ethnic backgrounds. Using a multigene panel or whole-genome sequencing, we identified patients with homozygous or compound heterozygous variants in XPC (n = 8), XPA (n = 4), DDB2 (n = 1), and ERCC6 (n = 1). Two XP and one CS cases were presented in one family. A total of 110 relatives were screened to determine carrier status. Skin cancer was revealed in 100% of the 13 XP patients; the median age at first manifestation was 13 years (range 5–23). Basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma developed in 10, 7, and 3 patients, respectively. All three cancer types occurred in two patients. The patients underwent surgical treatment; additionally, two patients with BCC received targeted therapy (vismodegib, sonidegib). Anti-PD-1 immunotherapy was administered successfully in three patients with multiple or advanced skin tumors.
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BibTeX
@article{belysheva2026clinical,
title = {{Clinical Features, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center Experience}},
author = {Tatiana Belysheva and Tatiana Nasedkina and Ekaterina Zelenova and Vera Semenova and Peter Sparber and Elena Sharapova and Denis Sofronov and Marina Dorofeeva and Olga Bozhko and Yana Vishnevskaya and Irina Kletskaya and Svetlana Mikhaylova and Timur Valiev and Natalia Petenko and Kristina Orlova and Igor Samoilenko and Svetlana Varfolomeeva},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = nov,
doi = {10.3390/ijms27219889},
url = {https://www.mdpi.com/1422-0067/27/21/9889},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Clinical Features, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center Experience
AU - Tatiana Belysheva
AU - Tatiana Nasedkina
AU - Ekaterina Zelenova
AU - Vera Semenova
AU - Peter Sparber
AU - Elena Sharapova
AU - Denis Sofronov
AU - Marina Dorofeeva
AU - Olga Bozhko
AU - Yana Vishnevskaya
AU - Irina Kletskaya
AU - Svetlana Mikhaylova
AU - Timur Valiev
AU - Natalia Petenko
AU - Kristina Orlova
AU - Igor Samoilenko
AU - Svetlana Varfolomeeva
PY - 2026
DA - 2026/11/04
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27219889
UR - https://www.mdpi.com/1422-0067/27/21/9889
AB - Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare autosomal recessive DNA repair disorders. XP is characterized by extreme sensitivity to UV radiation and a very high risk of skin cancer. To date, little is known about the clinical characteristics and genetic basis of these diseases in Russia. Here, we present a detailed study of 14 patients (aged 6–30 years) from 11 unrelated families of diverse ethnic backgrounds. Using a multigene panel or whole-genome sequencing, we identified patients with homozygous or compound heterozygous variants in XPC (n = 8), XPA (n = 4), DDB2 (n = 1), and ERCC6 (n = 1). Two XP and one CS cases were presented in one family. A total of 110 relatives were screened to determine carrier status. Skin cancer was revealed in 100% of the 13 XP patients; the median age at first manifestation was 13 years (range 5–23). Basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma developed in 10, 7, and 3 patients, respectively. All three cancer types occurred in two patients. The patients underwent surgical treatment; additionally, two patients with BCC received targeted therapy (vismodegib, sonidegib). Anti-PD-1 immunotherapy was administered successfully in three patients with multiple or advanced skin tumors.
SN - 1422-0067
ER -