Multiple endocrine neoplasia type 1 combined with thyroid neoplasm: A case report and review of literatures

Abstract

BACKGROUND 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. CASE SUMMARY 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. CONCLUSION 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.

Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance

“…At a lower level of statistical evidence, we mention the sample-focused analysis of case reports with regard to the parathyroid and pancreatic MEN1-NETs having a specified genetic confirmation of the MEN1 pathogenic variant (regardless of if the type was detailed by the original authors) [68,73,75,77,81,97,100,[116][117][118][119][120][121][122][123][124][125][126][127][128][129][130][131][132] (Table 6). There were 24 MEN1 subjects (including index cases with genetic analysis for their relatives) within 24 papers; they were aged between 17 years (only two pediatric cases were found) and 74 years; the female-to-male ratio was 0.84.…”

“…More than 1500 distinct germline and somatic pathogenic variants across the syndrome have been identified so far and continue to be identified [ 77 , 78 ]. In the meantime, the traditional clinical picture standing for the “three Ps”, namely pituitary, pancreas, and parathyroid NETs, extended toward a heterogonous presentation that also includes more than twenty endocrine and nonendocrine types of tumors like adrenocortical unilateral or bilateral disease (mostly adenomas, and only exceptionally carcinomas [ 79 , 80 ], pheochromocytoma, papillary thyroid carcinoma [ 81 ], and skin tumors such as collagenomas, lipomas/hibernomas, and angiofibromas [ 82 ], as well as cerebral tumors like meninigiomas [ 83 ], different forms of leiomyomas, and lung and thymus tumors [ 84 , 85 , 86 , 87 , 88 ]. MEN1 pathogenic variants in exon 2, 9, and 10 are prone to a more aggressive pancreatic NET behavior [ 72 ].…”

“…At a lower level of statistical evidence, we mention the sample-focused analysis of case reports with regard to the parathyroid and pancreatic MEN1-NETs having a specified genetic confirmation of the MEN1 pathogenic variant (regardless of if the type was detailed by the original authors) [ 68 , 73 , 75 , 77 , 81 , 97 , 100 , 116 , 117 , 118 , 119 , 120 , 121 , 122 , 123 , 124 , 125 , 126 , 127 , 128 , 129 , 130 , 131 , 132 ] ( Table 6 ).…”

“…There were 24 MEN1 subjects (including index cases with genetic analysis for their relatives) within 24 papers; they were aged between 17 years (only two pediatric cases were found) and 74 years; the female-to-male ratio was 0.84. The female population (N = 11) had an average age of 43.63 years (ranges between 28 and 60); males (N = 13) had a mean age of 40.07 years (ranges between 17 and 74) [ 68 , 73 , 75 , 77 , 81 , 97 , 100 , 116 , 117 , 118 , 119 , 120 , 121 , 122 , 123 , 124 , 125 , 126 , 127 , 128 , 129 , 130 , 131 , 132 ].…”

“…Notably, with respect to the overall MEN1 presentation, we mention adults with two lipomas [ 77 ] or a single giant cervical lipoma [ 125 ]; for the synchronous thyroid malignancy of papillary [ 81 ] and medullary type in a RET -negative patient [ 128 ], two MEN1 subjects displayed a thymus carcinoid as the first MEN1 manifestation [ 129 , 132 ].…”