Affiliations: [a] Department of Endocrinology and Metabolism, Suqian People's Hospital, Nanjing Drum Tower Hospital, Suqian, Jiangsu, China | [b] Department of Endocrinology and Metabolism, Huai'an Hospital Affiliated to Xuzhou Medical College and Huai'an Second People's Hospital, Huai'an, Jiangsu, China
Correspondence:
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Corresponding author: Shao-Gang Ma, Department of Endocrinology and Metabolism, Huai'an Hospital Affiliated to Xuzhou Medical College and Huai'an Second People's Hospital, No. 62 South Huaihai Road, Huai'an 223002, Jiangsu, China. E-mail:mashaogang@163.com
Abstract:
BACKGROUND: The thyroperoxidase (TPO) genetic variants in thyroid
carcinoma is scarcely reported. OBJECTIVE: We report on a pedigree of thyroid papillary carcinoma
and hypoechoic thyroid nodules with the TPO gene mutations. METHODS: The compound heterozygotic mutations of the TPO gene
(c.2268-2269 insT and c.2090 G>A) in two patients with congenital goiters
hypothyroidism were demonstrated. Fifteen family members of the proband and
105 control individuals were enrolled. The participants underwent clinical
examination and molecular screening for TPO mutation. The hypoechoic thyroid
nodules underwent fine needle aspiration biopsy. RESULTS: The mutation c.2268-2269 insT was detected in the four
family members with normal thyroid hormone levels. The other two members
harbored the c.2090 G>A mutation. The heterozygotes had degeneratively
hypoechoic thyroid nodules. The control individuals showed no mutation. The
maternal grandfather developed a multifocal papillary thyroid carcinoma with
lymph gland and nerve invasion in the left lobe of the thyroid gland. The
maternal grandfather harbored the TPO c.2268-2269 insT mutation but without
BRAFV600E mutation. Malignant cells were not observed in other members by
fine needle aspiration biopsy. CONCLUSION: TPO genetic variants may be associated with thyroid
carcinoma and hypoechoic thyroid nodules in a few cases. Long-term follow-up
in the pedigree with congenital goiter is reasonable.
