Multiple Endocrine Neoplasia Type 1 Combined With Papillary Thyroid Carcinoma and Nodular Goiter: A Case Report and Review of The Literature

Abstract Introduction: This is the first report of multiple endocrine neoplasia type 1 (MEN1) combined with papillary thyroid carcinoma (PTC) and nodular goiter in China. MEN1 is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presenting mostly as tumors of the parathyroid, endocrine pancreas (such as gastrinoma) and anterior pituitary. However, PTC and nodular goiter were not previously regarded as components.Patient concerns: We present a 35-year-old woman with MEN1 accompanied with coinstantaneous PTC and nodular goiter.Diagnosis: The pathological diagnosis was PTC with cervical lymph node metastasis, nodular goiter, parathyroid cyst and adenomatoid hyperplasia. Genetic analysis was performed and a germ-line MEN1 gene mutation was detected.Interventions: The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors.Outcomes: After 6 months of follow-up, ultrasonic examination of the patient’s neck showed no abnormality. Serum calcium and parathyroid hormone levels were normal.Conclusion: This is the first experience of a case of MEN1 combined with PTC and nodular goiter in China. MEN1 syndrome may have predisposed the present patient to PTC and nodular goiter. PTC and/or nodular goiter may be new components of MEN1. More cases are required to confirm this association.