Published online Jan 21, 2022. doi: 10.12998/wjcc.v10.i3.1032
Peer-review started: June 3, 2021
First decision: June 25, 2021
Revised: July 7, 2021
Accepted: December 22, 2021
Article in press: December 22, 2021
Published online: January 21, 2022
Processing time: 226 Days and 7.5 Hours
Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid, endocrine pancreas (such as gastrinoma) and anterior pituitary tumors. At present, papillary thyroid carcinoma (PTC) and nodular goiter are not regarded as components of MEN1.
A 35-year-old woman presented with MEN1 accompanied by coinstantaneous PTC and nodular goiter. The pathological diagnosis was PTC with cervical lymph node metastasis, nodular goiter, parathyroid cyst and adenomatoid hyperplasia. Genetic testing was performed and a MEN1 gene mutation was detected. The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors. At 18 mo of follow-up, ultrasonic examination of the neck showed no abnormality. Serum calcium and parathyroid hormone levels were normal. No new MEN1-associated tumors were detected.
The role of inactivating mutations of MEN1 gene in tumorigenesis of PTC and/or nodular goiter remains to be determined by more case reports and further research.
Core Tip: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid, endocrine pancreas and anterior pituitary tumors. We here report a case of MEN1 combined with papillary thyroid carcinoma (PTC) and nodular goiter, and review the literature. The role of inactivating mutations of MEN1 gene in tumorigenesis of PTC and/or nodular goiter is still controversial. There may be a potential correlation between MEN1 syndrome and papillary thyroid carcinoma/ nodular goiter.