Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review

Abstract

The occurrence of parathyroid carcinoma (PC) and atypical parathyroid neoplasm (APN) in multiple endocrine neoplasia type 1 (MEN1) is rare. The present paper reports the cases of 3 MEN1-PC/APN patients at our center and discusses the prevalence in a Chinese MEN1 cohort. Methods: This report is a retrospective analysis of 153 MEN1-associated primary hyperparathyroidism (MEN1-HPT) patients at our center, which included 3 MEN1-associated PC/APN (MEN1-PC/APN) patients. The clinical manifestations, biochemical indices, pathological findings, and therapy have been summarized along with the report of the genetic testing of the 3 patients. Results: Of the 153 MEN1-HPT patients, 1 (0.7%) was histopathologically diagnosed with PC and 2 (1.3%) with APN. Three heterozygous mutations were identified in the 3 MEN1-PC/APN patients (c.917 T > G, c.431T > C, and c.549 G > C). The cumulative findings of 3 cases with 18 previously reported MEN1-PC/APN cases revealed that the mean serum calcium (Ca) level was 3.15 ± 0.44 mmol/L and the median parathyroid hormone (PTH) level was 327 pg/mL (214.1, 673.1), both of which were significantly higher as compared to the respective levels in non-PC/APN MEN1 patients at our center [Ca: 2.78 mmol/L [2.61, 2.88], PTH: 185.5 pg/mL [108.3, 297.0]; P = 0.0003, 0.0034, respectively]. Conclusion: MEN 1-PC/APN is a rare disease, with a prevalence of only 2.0% among the MEN1-HPT cohort at our center. The affected patients recorded higher serum Ca level and PTH levels than those with MEN1-associated benign tumors. However, the diagnosis of MEN1-PC/APN is based upon pathology most of the times.

Case series of diagnosis and surgery challenges in parathyroid carcinoma

“…Reports have recognized PC cases in multiple endocrine neoplasia 1 (MEN1), an autosomal dominant syndrome affecting endocrine tumors. 90 % of MEN1 patients found presented with hyperparathyroidism [2] . Primary hyperparathyroidism is usually characterized by hypercalcemia, which occurs due to excessive autonomous secretion of parathyroid hormone (PTH) and is three to four times more likely to be found in women aged 50 to 65 years [3] , [4] .…”

Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort

“…Apparently, the probability of carrying CDC73 mutations in APA patients was lower than that in PC patients. As mentioned before, two patients with APA and another with PC in our cohort were found out all carrying a missense variation of MEN1 gene ( 36 ). PC occurred very rarely in MEN1-HPT, whose parathyroid lesions were almost exclusively benign ( 48 ).…”

Parathyroid Carcinoma All-In-One, a Rare Life-Threatening Case With Multiple Systemic Manifestations: Case Report and Review of the Literature

“…Although PC mostly occurs as a sporadic disorder, some hereditary syndromes associated with PC may be found ( 9 ). They include the HPT-JT syndrome, MEN syndromes, and potentially the non‐syndromic familial isolated primary hyperparathyroidism (FIHP) ( 10 ).…”