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.
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
Anna Reimer Hansen, Line Borgwardt, Ase Krogh Rasmussen, Christian Godballe, Morten Moller Poulsen, Filipe G. Vieira, Jes Sloth Mathiesen, Maria Rossing
Summary: This study did not find evidence of MEN 2 in the Danish RET Leu56Met cohort, indicating that the Leu56Met variant is common in the population.
FRONTIERS IN ENDOCRINOLOGY
(2021)
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)
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
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)
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
Surgery
Mallika Dhanda, Amit Agarwal, Kausik Mandal, Sushil Gupta, M. Sabaretnam, Gyan Chand, Anjali Mishra, Gaurav Agarwal, Saroj Kanta Mishra
Summary: This study compared the features of VHL-associated PCC with MEN2A-associated PCC and found that in India, VHL-PCC may be symptomatic despite presenting with noradrenergic phenotype, being large in size, and multifocal. Multiple nodules in VHL-PCC could increase the risk of recurrence following subtotal adrenalectomy.
WORLD JOURNAL OF SURGERY
(2022)
Article
Endocrinology & Metabolism
Mirthe J. Klein Haneveld, Mark J. C. van Treijen, Carolina R. C. Pieterman, Olaf M. Dekkers, Annenienke van de Ven, Wouter W. de Herder, Wouter T. Zandee, Madeleine L. Drent, Peter H. Bisschop, Bas Havekes, Menno R. Vriens, Annemarie A. Verrijn Stuart, Gerlof D. Valk, Rachel S. van Leeuwaarde
Summary: The optimal age for screening pancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1 (MEN1) is debated. This study assessed the age of occurrence of clinically relevant NF-pNETs in young MEN1 patients and found that initiating surveillance at age 13 to 14 is justified, considering the psychological and medical burden of screening at a young age.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
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
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
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)
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
Oncology
Jean-Francois Bretagne, Aurore Carlo, Christine Piette, Chloe Rousseau, Mathilde Cosson, Astrid Lievre
Summary: Switching from gFOBT to FIT in a mature population-based colorectal cancer screening program led to a dramatic decrease in the cumulative incidence rates of interval cancers, with FIT demonstrating significantly higher sensitivity compared to gFOBT.
BRITISH JOURNAL OF CANCER
(2021)
Article
Ophthalmology
Chen Liang, Lan Ya Peng, Ming Zou, Xuemei Chen, Yingying Chen, Hou Chen, Lirong Xiao, Naihong Yan, Junjun Zhang, Qing Zhao, Xi Huang
Summary: The mutation ratio of GNAQ/11 in UM varies among patients, with tumors harboring heterogeneous mutation of GNAQ/11 showing a poorer prognosis compared to those with homogeneous mutation.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Endocrinology & Metabolism
K. Blaker, A. Wijewardene, E. White, G. Stokes, S. Chong, K. Ganda, L. Ridley, S. Brown, C. White, R. Clifton-Bligh, M. J. Seibel
Summary: Both electronic search tools reliably identified patients with any fracture, but showed differences in detecting individuals with minimal trauma fractures. A hybrid tool combining the methodology of both programs is likely to improve the identification of patients with osteoporosis.
OSTEOPOROSIS INTERNATIONAL
(2022)
Editorial Material
Oncology
Nicholas L. Kesby, Alexander J. Papachristos, Matti Gild, Ahmad Aniss, Mark S. Sywak, Roderick Clifton-Bligh, Stan B. Sidhu, Anthony R. Glover
ANNALS OF SURGICAL ONCOLOGY
(2022)
Article
Oncology
Nicholas L. Kesby, Alexander J. Papachristos, Matti Gild, Ahmad Aniss, Mark S. Sywak, Roderick Clifton-Bligh, Stan B. Sidhu, Anthony R. Glover
Summary: Surgical management of MTC can achieve long-term survival, with a higher likelihood of requiring RLN resection for patients with advanced disease. The use of TKIs did not show a significant overall survival benefit in this study.
ANNALS OF SURGICAL ONCOLOGY
(2022)
Article
Endocrinology & Metabolism
Matti Lauren Gild, Mico Chan, Jay Gajera, Brett Lurie, Ziba Gandomkar, Roderick J. Clifton-Bligh
Summary: The use of TI-RADS scoring along with two deep learning models can assist in distinguishing benign and malignant nodules. The study established high-risk (TI-RADS 4,5) and low-risk (TI-RADS 2,3) radiological categories, providing new strategies for preoperative diagnosis of thyroid nodules.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Dahlia F. Davidoff, Diana E. Benn, Michael Field, Ashley Crook, Bruce G. Robinson, Katherine Tucker, Richard De Abreu Lourenco, John R. Burgess, Roderick J. Clifton-Bligh
Summary: Tumors detected through surveillance in carriers of SDHB pathogenic variants (PVs) were smaller, had a reduced risk of metastatic disease, and lower mortality rate compared to probands.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Chemistry, Analytical
Taryn Chalmers, Blake Anthony Hickey, Phillip Newton, Chin-Teng Lin, David Sibbritt, Craig S. McLachlan, Roderick Clifton-Bligh, John Morley, Sara Lal
Summary: This study aimed to investigate whether changes in heart rate variability can predict the quality of response to acute stress, and whether baseline stress levels can affect the changes in heart rate variability. Although no ubiquitous patterns were found, novel changes were identified between resting and stress states.
Article
Behavioral Sciences
Taryn Chalmers, Shamona Eaves, Ty Lees, Chin-Teng Lin, Phillip J. Newton, Roderick Clifton-Bligh, Craig S. McLachlan, Sylvia M. Gustin, Sara Lal
Summary: This study explores the relationship between neurocognitive parameters and heart rate variability (HRV) in nurses during acute stress situations. The findings show differences in cognitive performance and HRV parameters between nurses and non-nurses, highlighting the potential use of HRV markers in relation to cognitive performance and autonomic dysfunction.
BRAIN AND BEHAVIOR
(2022)
Article
Endocrinology & Metabolism
Ayanthi Wijewardene, Jeremy Hoang, Aung Min Maw, Matti Gild, Lyndal Tacon, Paul Roach, Geoffrey Schembri, David Chan, Roderick Clifton-Bligh
Summary: In this study, a new scoring system (I-PET) combining whole body scan (WBS) and FDG findings was proposed to identify patients who are refractory to radioactive iodine in thyroid cancer. The results showed that patients with I-PET [3B] were more likely to receive multikinase inhibitor therapy and had a higher mortality rate.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Multidisciplinary Sciences
Sue Lynn Lau, Rebecca A. Stokes, Beverly Ng, Kim Cheng, Roderick Clifton-Bligh, Jenny E. Gunton
Summary: The expression of VDR has been found in various cell types involved in metabolism, including the beta-cells of the pancreatic islets. The study investigates the effects of VDR-null (VDRKO) on organs involved in energy metabolism and glucose homeostasis. While VDRKO mice showed reduced bone density, subcutaneous fat mass, and muscle weights, there was no significant effect on glucose tolerance, especially in the setting of decreased fat mass.
Article
Endocrinology & Metabolism
Roderick J. Clifton-Bligh
Summary: Diagnosis of pheochromocytoma or paraganglioma (PPGL) during pregnancy has historically led to high rates of maternal and fetal morbidity and mortality. Recent evidence suggests that early recognition of PPGL and appropriate medical management can improve outcomes. The need for antepartum surgery and the mode of delivery in PPGL cases are still controversial. It is important to offer genetic counseling and testing to women with PPGL in pregnancy, as they are often associated with heritable syndromes.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2023)
Review
Endocrinology & Metabolism
Matti L. Gild, Roderick J. Clifton-Bligh, Lori J. Wirth, Bruce G. Robinson
Summary: A personalized approach to MTC management has overcome challenges through advancements in diagnostic and treatment modalities, including RET testing and novel imaging techniques. Systemic therapy for persistent and metastatic disease has greatly improved with the use of targeted kinase inhibitors such as selpercatinib and pralsetinib. This article discusses the changing paradigms in MTC patient care and the evolving management strategies for this heterogeneous malignancy.
Editorial Material
Oncology
Karel Pacak, Roderick Clifton-Bligh
Summary: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors that produce catecholamines. Recent advances in their management, localization, treatment, and surveillance have significantly improved outcomes for patients with PPGLs or carriers of pathogenic genetic variants linked to these tumors. Molecular stratification, revised definitions, specific clinical features, plasma biomarkers, imaging techniques, treatment guidelines, and international consensus play important roles in enhancing understanding and future interventions for PPGLs.
ENDOCRINE-RELATED CANCER
(2023)
Article
Oncology
Dahlia F. Davidoff, Eugenie S. Lim, Diana E. Benn, Yuvanaa Subramaniam, Eleanor Dorman, John R. Burgess, Scott A. Akker, Roderick J. Clifton-Bligh
Summary: Phaeochromocytoma and paraganglioma are highly heritable tumours, often caused by mutations in Krebs's cycle genes such as succinate dehydrogenase (SDH). This study found evidence of transmission ratio distortion (TRD) in the transmission of SDHB and SDHD pathogenic variants, suggesting a departure from Mendelian inheritance. The reasons for TRD and its implications for reproductive counseling and further research were discussed.
ENDOCRINE-RELATED CANCER
(2023)
Review
Oncology
Susan Richter, Timothy J. Garrett, Nicole Bechmann, Roderick J. Clifton-Bligh, Hans K. Ghayee
Summary: Metabolites play a crucial role in maintaining life and can be quantified to improve the diagnosis and treatment of pheochromocytoma/paraganglioma (PPGL). PPGLs have unique features that provide biomarkers and clues for targeted treatments. Genetic aberrations in PPGL alter cellular pathways and can be exploited diagnostically. Personalized diagnostics and treatment are within reach with the availability of omics technologies.
ENDOCRINE-RELATED CANCER
(2023)
Article
Endocrinology & Metabolism
Matti L. Gild, Martyn Bullock, Venessa Tsang, Roderick J. Clifton-Bligh, Bruce G. Robinson, Lori J. Wirth
Summary: This study identified actionable targets in thyroid cancer, including mutations in BRAF(V600E), N/H/K RAS, and oncogenic kinase fusions involving NTRK, RET, ALK, and ROS1. However, acquired resistance may develop, necessitating the exploration of new therapeutic strategies.
