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

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Abstract

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.

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Acknowledgements

This study was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research and the NIH Clinical Center. We thank Dr. Brandi Carofino for assistance in writing the manuscript and Dr. Mark Raffeld for assistance in next-generation sequencing of the thyroid cancers.

Funding

This research was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research and the NIH Clinical Center.

Author information

Authors and Affiliations

  1. Laboratory of Cancer Biology and Genetics, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, USA

    S. D. Kouatcheu, D. Tamura, S. G. Khan, J. J. DiGiovanna & K. H. Kraemer

  2. NIH Academy Enrichment Program, Bethesda, MD, USA

    S. D. Kouatcheu

  3. Clinical Center, NIH, Bethesda, MD, USA

    J. Marko

  4. Laboratory of Pathology, CCR, NCI, NIH, Bethesda, MD, USA

    C. R. Lee

Authors
  1. S. D. Kouatcheu
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  2. J. Marko
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  3. D. Tamura
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  4. S. G. Khan
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  5. C. R. Lee
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  6. J. J. DiGiovanna
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  7. K. H. Kraemer
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Contributions

Concept, investigation, writing review and editing: all authors; software, visualization, and writing first draft: SDK, KHK; resources: JM, DT, CRL, JJD, KHK; supervision: JM, CRL, KHK; validation: DT, KHK; administration: KHK.

Corresponding author

Correspondence to K. H. Kraemer.

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No conflicts of interest to declare.

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This study was performed under National Cancer Institute (NCI)-approved natural history protocols.

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Informed consent was obtained from all individual participants included in the study.

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The participants have consented to the submission of this report for publication.

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Kouatcheu, S.D., Marko, J., Tamura, D. et al. Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging. J Endocrinol Invest 44, 1475–1482 (2021). https://doi.org/10.1007/s40618-020-01451-x

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  • DOI: https://doi.org/10.1007/s40618-020-01451-x

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