Review
Endocrinology & Metabolism
Jenny E. Blau, William F. Simonds
Summary: The regulation of serum calcium levels in humans involves the endocrine action of the parathyroid glands, vitamin D, and various target cells and tissues. Primary hyperparathyroidism is a disorder of mineral metabolism typically associated with elevated serum calcium and can be caused by uncontrolled release of parathyroid hormone from abnormal glands, sometimes linked to genetic mutations. Further research into familial HPT lacking known predisposition genes holds promise for the discovery of novel genes related to parathyroid tumor development.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocio Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixas, Mercedes Rigla
Summary: Genetic screening in a Mediterranean cohort of suspected familial hyperparathyroidism revealed a high prevalence of germline variants, leading to early diagnosis and treatment for patients and early intervention in their relatives. It is recommended to conduct genetic testing for patients with primary hyperparathyroidism who present high-risk features.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Kuan-Yu Lin, Yu-Ting Kuo, Mei-Fang Cheng, Pei-Lung Chen, Hsiu-Po Wang, Tsu-Yao Cheng, Chia-Hsuin Chang, Hsiang-Fong Kao, Shih-Hung Yang, Hung-Yuan Li, Chia-Hung Lin, Yuh-Tsyr Chou, An-Ko Chung, Wan-Chen Wu, Jin-Ying Lu, Chih-Yuan Wang, Wen-Hui Hsih, Chen-Yu Wen, Wei-Shiung Yang, Shyang-Rong Shih
Summary: Recent studies suggest that the clinical characteristics and biological behavior of pituitary tumors in patients with MEN1 may be less aggressive than previously reported. Increased imaging of the pituitary as recommended by screening guidelines identifies more tumors potentially at an earlier stage. However, it is unknown if these tumors have different clinical characteristics in different MEN1 mutations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Surgery
Carolina R. C. Pieterman, Samuel M. Hyde, Si-Yuan Wu, Jace P. Landry, Yi-Ju Chiang, Ioannis Christakis, Elizabeth G. Grubbs, Sarah B. Fisher, Paul H. Graham, Steven G. Waguespack, Nancy D. Perrier
Summary: Genotype-negative patients with clinical multiple endocrine neoplasia type 1 have better disease-specific survival and a different clinical course compared to genotype-positive patients.
Review
Biochemistry & Molecular Biology
Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Summary: Pancreatic neuroendocrine tumors (pNETs) are a rare group of cancers, accounting for about 1-2% of all pancreatic neoplasms, with some arising in patients with endocrine tumor syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1). MEN1-related pNETs present challenges in treatment due to their unique characteristics and the need for extensive surgery. Epigenetic-based therapies aiming to correct DNA methylation and histone modifications may offer a potential therapeutic strategy for MEN1 pNETs resistant to standard treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Francesca Marini, Maria Luisa Brandi
Summary: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited multiple cancer syndrome, with a complex pathogenesis involving genetic factors, epigenetic factors, and other exogenous and endogenous factors. The microRNA miR-24 may play a significant role in the occurrence and development of MEN1 syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Ying Wang, Sheng Cai, He Liu, Rui-Na Zhao, Xing-Jian Lai, Ke Lv, Yu-Xin Jiang, Jian-Chu Li
Summary: Patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism (MPHP) had higher levels of parathyroid hormone, more frequent multiglandular parathyroid disease and hyperplasia, and parathyroid lesions usually presented with a round shape on ultrasonography compared to those with sporadic primary hyperparathyroidism (SPHP). Over the last 5 years, more concurrent thyroid cancer was found in MPHP patients than in SPHP patients.
Article
Endocrinology & Metabolism
A. A. Figueiredo, A. Saramago, B. M. Cavaco, J. Simoes-Pereira, V. Leite
Summary: This study aimed to characterize the clinicopathological manifestations of familial parathyroid tumors and compare them between different syndromes. The results showed that patients with MEN2A syndrome presented with lower serum PTH and calcium levels at diagnosis, while the predominant first manifestation in MEN1 syndrome was gastroenteropancreatic neuroendocrine tumors. Additionally, MEN1 patients had a higher number of affected parathyroid glands compared to MEN2A and HPT-JT.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Endocrinology & Metabolism
William F. Simonds
Summary: Cushing's syndrome can occur spontaneously or in the context of familial disease. Multiple endocrine neoplasia type 1 (MEN1) is unique among familial endocrine tumor syndromes as it can result in hypercortisolism due to pituitary, adrenal, or thymic neuroendocrine tumors. The clinical manifestations of MEN1 include primary hyperparathyroidism, pituitary tumors, gastroenteropancreatic neuroendocrine tumors, and bronchial carcinoid tumors. CS in MEN1 can be caused by ACTH-secreting pituitary tumors, adrenocortical neoplasms, or ectopic tumoral ACTH secretion from thymic neuroendocrine tumors.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Fuqiong Chen, Qinqin Xu, Wenzhu Yue, Xuefeng Yu, Shiying Shao
Summary: This is a case report of hyperparathyroidism caused by MEN1 gene mutation. The patient was diagnosed with a mutation in the MEN1 gene through genetic analysis. The patient's condition improved after undergoing parathyroidectomy.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Sara Lomelino Pinheiro, Ana Saramago, Branca Maria Cavaco, Carmo Martins, Valeriano Leite, Tiago Nunes da Silva
Summary: This paper describes a case of parathyroid carcinoma with both germline and somatic inactivation of the MEN1 gene, shedding light on the understanding of the pathogenesis of parathyroid carcinoma.
ENDOCRINE CONNECTIONS
(2023)
Review
Endocrinology & Metabolism
Elisabetta Lavezzi, Alessandro Brunetti, Valeria Smiroldo, Gennaro Nappo, Vittorio Pedicini, Eleonora Vitali, Giampaolo Trivellin, Gherardo Mazziotti, Andrea Lania
Summary: This article presents two cases of MEN4 and provides some indications for the management of these patients through a review of the current literature. According to the literature, hyperparathyroidism is the most common clinical feature of MEN4, followed by pituitary adenoma and neuroendocrine tumors. However, MEN4 appears to be a variant of MEN with milder clinical features and later onset.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Pharmacology & Pharmacy
B. Saravana-Bawan, J. D. Pasternak
Summary: This review article discusses the diagnosis and treatment of patients with multiple endocrine neoplasia type 2 (MEN2), including the most common tumors associated with MEN2 and additional manifestations. The review provides an overview of clinical manifestations, screening, diagnosis, treatment, and surveillance of patients with MEN2.
THERAPEUTIC ADVANCES IN CHRONIC DISEASE
(2022)
Article
Pathology
Anna Vera D. Verschuur, Aranxa S. M. Kok, Folkert H. M. Morsink, Wendy W. J. de Leng, Medard F. M. van den Broek, Marco J. Koudijs, Johan A. Offerhaus, Gerlof D. Valk, Menno R. Vriens, Bernadette P. M. van Nesselrooij, Wenzel M. Hackeng, Lodewijk A. A. Brosens
Summary: A clinical diagnosis of multiple endocrine neoplasia type 1 (MEN1) syndrome is usually confirmed with genetic testing in the germline. This study investigated the potential of menin immunohistochemistry in parathyroid adenomas as an additional tool in the recognition and genetic diagnosis of MEN1 syndrome. Menin loss was found in 100% of patients with MEN1 and 9% of patients without MEN1, indicating the usefulness of menin immunohistochemistry in identifying MEN1-related tumors. It also showed high positive and negative predictive values for the diagnosis of MEN1.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2023)
Article
Endocrinology & Metabolism
I Mazarico-Altisent, I Capel, N. Baena, M. R. Bella-Cueto, S. Barcons, X. Guirao, L. Albert, A. Cano, R. Pareja, A. Caixas, M. Rigla
Summary: New germline mutations in CDKIs have been identified in patients with primary hyperparathyroidism (PHPT), highlighting the importance of including CDKIs in genetic testing for PHPT.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
