Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging

• Published in: Journal of endocrinological investigation Vol. 44; no. 7; pp. 1475 - 1482
• Main Authors: Kouatcheu, S. D., Marko, J., Tamura, D., Khan, S. G., Lee, C. R., DiGiovanna, J. J., Kraemer, K. H.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.07.2021; Springer Nature B.V
• Subjects: Aging; Autopsy; Deoxyribonucleic acid; DNA; DNA repair; DNA sequencing; Endocrinology; Internal Medicine; Malignancy; Medicine; Medicine & Public Health; Metabolic Diseases; Nodules; Original Article; Papillary thyroid cancer; Skin cancer; Surgery; Thyroid cancer; Ultrasound; Xeroderma pigmentosum; Xeroderma pigmentosum; Thyroid ultrasound; Thyroid cancer; DNA repair; Thyroid nodules; DNA sequencing
• ISSN: 1720-8386; 0391-4097; 1720-8386
• DOI: 10.1007/s40618-020-01451-x

Purpose Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prevalence has never been determined in XP patients enrolled in our natural history study at the National Institutes of Health (NIH). Methods We performed thyroid ultrasound examinations on all 29 XP patients examined from 2011 to 2019 and assessed nodule malignancy using the Thyroid Imaging Reporting and Data System. Thyroid nodule prevalence was also obtained from comparison cohorts. DNA sequencing was performed on thyroid tissue from XP patients who had surgery for thyroid cancer. Results Thyroid nodules were identified in 18/29 XP patients (62%). The median age of patients with thyroid nodules in our XP cohort (20 years) was younger than that of three comparison groups: 36 years (California study—208 subjects), 48 years (Korean study—24,757 subjects), and 52 years (NIH—682 research subjects). Multiple (2–4) thyroid nodules were found in 12/18 (67%) of the patients with nodules. Autopsy examination revealed follicular adenomas in 4/8 (50%) additional XP patients. DNA sequencing revealed rare mutations in two other XP patients with papillary thyroid cancer. Conclusions XP patients have an increased incidence of thyroid nodules at an early age in comparison to the general population. These finding confirm another premature aging feature of XP.