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
Oncology
Grigoris Effraimidis, Ulrich Knigge, Maria Rossing, Peter Oturai, Ase Krogh Rasmussen, Ulla Feldt-Rasmussen
Summary: Neuroendocrine neoplasms (NENs) are rare tumors that have shown a significant increase in incidence over the past four decades. These tumors arise from neuroendocrine cells and have diverse presentations and behaviors, depending on the organ involved. Multiple endocrine neoplasia type 1 (MEN-1) is a key genetic syndrome associated with NENs and research on diagnosis and treatment is progressing.
SEMINARS IN CANCER BIOLOGY
(2022)
Review
Endocrinology & Metabolism
Abdallah Al-Salameh, Guillaume Cadiot, Alain Calender, Pierre Goudet, Philippe Chanson
Summary: Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the co-occurrence of primary hyperparathyroidism, duodenopancreatic neuroendocrine tumours (NETs) and/or pituitary adenomas. Patients with MEN1 should undergo tailored biochemical and imaging screening. Knowledge about the clinical phenotype of these tumours has progressed over the past 10 years, particularly in France and the Netherlands.
NATURE REVIEWS ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Kreepa G. Kooblall, Hannah Boon, Treena Cranston, Mark Stevenson, Alistair T. Pagnamenta, Angela Rogers, Simona Grozinsky-Glasberg, Tristan Richardson, Daniel E. H. Flanagan, Jenny C. Taylor, Kate E. Lines, Rajesh Thakker
Summary: A new MEN1 5' untranslated region mutation was identified in a family with multiple endocrine neoplasia type 1, highlighting the importance of investigating untranslated regions in MEN1 patients without coding region mutations.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Endocrinology & Metabolism
Noriko Kimura, Yasuji Hirata, Nozomu Iwashiro, Hiroshi Kijima, Shinobu Takayasu, Satoshi Yamagata, Satoru Sakihara, Shinya Uchino, Masanori Ohara
Summary: This study provides insights into the optimal treatment for Zollinger-Ellison syndrome (ZES) in patients with multiple endocrine neoplasia type 1 (MEN1) and highlights the importance of long-term follow-up for pulmonary NET G2. Additionally, the variability of menin immunohistochemistry (IHC) in MEN1-related tumors may be indicative of tumor formation patterns.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Helene Singeisen, Mariko Melanie Renzulli, Vojtech Pavlicek, Pascal Probst, Fabian Hauswirth, Markus K. Muller, Magdalene Adamczyk, Achim Weber, Reto Martin Kaderli, Pietro Renzulli
Summary: Objective: The study aimed to define the disease characteristics of multiple endocrine neoplasia type 4 (MEN4) caused by a CDKN1B germline mutation. Methods: A systematic review was conducted using PRISMA 2020 criteria and literature search from January 2006 to August 2022. Results: Analysis of 48 symptomatic patients revealed 28 different CDKN1B variants, predominantly missense and frameshift mutations. MEN4 predominantly affected women around 50 years of age, with primary hyperparathyroidism being the leading pathology.
ENDOCRINE CONNECTIONS
(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)
Article
Genetics & Heredity
Antongiulio Faggiano, Beatrice Fazzalari, Nevena Mikovic, Flaminia Russo, Virginia Zamponi, Rossella Mazzilli, Vito Guarnieri, Maria Piane, Vincenzo Visco, Simona Petrucci
Summary: The aim of this study was to evaluate the predictive role of specific clinical factors for the diagnosis of MEN1 and MEN4 in patients with an initial diagnosis of gastrointestinal, bronchial, or thymic neuroendocrine tumor (NET). The preliminary data showed that a diagnosis of NET in patients with a negative family history may suggest MEN1 in the presence of >= three positive phenotypic criteria.
Article
Medicine, General & Internal
Carolina Chaves, Tiago Nunes da Silva, Bernardo Dias Pereira, Joao Anselmo, Isabel Claro, Branca M. Cavaco, Ana Saramago, Valeriano Leite
Summary: MEN1 is a familial syndrome caused by disruption of the MENIN tumor suppressor protein, leading to challenges in management due to its effects on various endocrine tissues and predisposition to tumors. This case presented a patient with multiple endocrine and autoimmune disorders, underwent surgical interventions and long-term familial genetic screening, resulting in stable outcomes during a 24-year follow-up period. The interplay between MENIN and the immune system highlighted in this case may have implications for future targeted surveillance and treatment of MEN1 patients.
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)
Editorial Material
Medicine, General & Internal
Zhenping Han, Tingting Li, Siyi Wang, Li Gao, Ying Hu, Yu Zhao, Jieping Yan
Summary: This case report describes a 52-year-old male patient diagnosed with multiple endocrine neoplasia type 1 (MEN1) through gastrinoma, parathyroid adenoma and gene detection. The patient had relapsed primary hyperparathyroidism (PHPT) and received ultrasound-guided radiofrequency ablation (RFA) as a treatment. The patient showed remarkable recovery after RFA for the relapsed PHPT. RFA may be considered as an alternative treatment for MEN1 patients with high surgical risk or those unwilling or unable to undergo surgery.
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)
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)
Article
Genetics & Heredity
Francesca Giusti, Federica Cioppi, Caterina Fossi, Francesca Marini, Laura Masi, Francesco Tonelli, Maria Luisa Brandi
Summary: MEN1 syndrome is a rare genetic syndrome that can have a psychological impact on patients and their families. However, patients showed moderate optimism and normal quality of life when receiving specialized care and constant follow-up at a dedicated Referral Center.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
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)
