Laboratory of Cancer Biology and Genetics, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, USA.
NIH Academy Enrichment Program, Bethesda, MD, USA.
J Endocrinol Invest. 2021 Jul;44(7):1475-1482. doi: 10.1007/s40618-020-01451-x. Epub 2020 Nov 5.
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).
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.
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.
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.
着色性干皮病（XP）是一种常染色体隐性遗传病，存在 DNA 修复缺陷，皮肤癌风险显著增加，且有早衰现象。北非的报告描述了 XP 患者的甲状腺结节，但在我们于美国国立卫生研究院（NIH）进行的自然病史研究中登记的 XP 患者中，从未确定过甲状腺结节的患病率。
我们对 2011 年至 2019 年间检查的 29 名 XP 患者进行了甲状腺超声检查，并使用甲状腺影像报告和数据系统（Thyroid Imaging Reporting and Data System）评估了结节的恶性程度。还通过比较队列获得了甲状腺结节的患病率。对因甲状腺癌而接受手术的 XP 患者的甲状腺组织进行了 DNA 测序。
在 29 名 XP 患者中（62%）发现了甲状腺结节。我们的 XP 患者中患有甲状腺结节的患者的中位年龄（20 岁）比三个对照组的年龄都要小：36 岁（加利福尼亚研究-208 例）、48 岁（韩国研究-24757 例）和 52 岁（NIH-682 研究对象）。在 18 名患有结节的患者中（67%）发现了 2-4 个多个甲状腺结节。尸检检查显示 8 名 XP 患者中的 4 名（50%）患有滤泡性腺瘤。在另外两名患有甲状腺乳头状癌的 XP 患者中，DNA 测序发现了罕见的突变。
与普通人群相比，XP 患者的甲状腺结节发生率在年轻时就有所增加。这些发现证实了 XP 的另一个早衰特征。
