ArticleCommunications medicine2023
Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case series.
Article in Communications medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Contemporary management of treatment-related dermatologic toxicities in gynecologic cancers: a systematic review based on evidence from 2021 to 2025.Frontiers in medicine · 2026Pooled it
- Rare internal malignancies in xeroderma pigmentosum: A report of two cases from Tunisia and analysis of driver mutations.Cancer pathogenesis and therapy · 2026Article
- High cancer-associated mutational burden in normal blood of xeroderma pigmentosum group C, but not groups A, D, or F.Blood neoplasia · 2026Article
- Review
- Article
- Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies.Genome medicine · 2025Article
- Immune checkpoint inhibitors for children with xeroderma pigmentosum and advanced cutaneous squamous cell carcinoma: A case presentation and brief review.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Review
- The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.Cancers · 2023Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundXeroderma pigmentosum (XP) is a group of rare hereditary disorders with highly increased risk of skin tumors due to defective DNA repair. Recently we reported 34-fold increased risk of internal tumors in XP patients in comparison with general population. The molecular data and clinical practice on the internal tumors treatment in XP patients is limited and scarcely represented in the medical literature. In this work, we describe young patients with constitutive biallelic deactivation of the XPC gene developing gynecological tumors with somatic DICER1 mutations.
methodsWhole genome sequencing was used to analyze in detail somatic mutational landscape and driver events of these rare tumors.
resultsWe describe five early-onset gynecological tumors in four xeroderma pigmentosum group C (XP-C) young patients (11 to 19 years old) including vaginal embryonal rhabdomyosarcomas in monozygotic twin sisters, juvenile granulosa-cell tumor of the ovary and poorly differentiated stage IA Sertoli-Leydig cell tumor in 19-years old patient, and FIGO stage IC1 tumor of ovary in 13-years old patient. XP-C ovarian tumors harbor 4.4 times more single base substitutions than sporadic tissue-matched cancers and demonstrate XP-C specific mutation signature with strong transcriptional bias indicating inability of the cells to repair bulky DNA lesions of unknown etiology. A special mode of treatment was applied to avoid usage of chemotherapy which is toxic for XP patients.
conclusionsXP-C status should be accounted for prevention and specific treatment of gynecological tumors in young DNA repair-deficient XP patients.
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