2,550 results match your criteria Multiple Endocrine Neoplasia Type 1


The Clinical Expression and Impact of Multiple Endocrine Neoplasia 1 During Pregnancy.

Clin Endocrinol (Oxf) 2020 May 17. Epub 2020 May 17.

Department of Diabetes and Endocrinology, Royal Hobart Hospital, Hobart, Australia.

Context: Multiple endocrine neoplasia type 1 (MEN 1) is characterised by multi-system neoplasia including primary hyperparathyroidism and pituitary adenoma. Despite the adolescent onset of endocrinopathies, information regarding the impact of maternal MEN 1 on pregnancy is limited to case reports.

Objective: To explore pregnancy outcomes in MEN 1 positive women. Read More

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http://dx.doi.org/10.1111/cen.14252DOI Listing

Clues for genetic anticipation in Multiple Endocrine Neoplasia type 1.

J Clin Endocrinol Metab 2020 May 12. Epub 2020 May 12.

Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary disease caused by loss-of-function of the MEN1 gene, a tumor suppressor gene encoding for the protein menin. It is characterized by the occurrence of primary hyperparathyroidism (pHPT), duodenopancreatic neuroendocrine tumors (dpNET), pituitary tumors (PIT), adrenal adenomas (ADR) and bronchopulmonary (bp-NET), thymic and gastric neuroendocrine tumors. More insight into factors influencing the age-related penetrance of MEN1 manifestations could provide clues for more personalized screening programs. Read More

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http://dx.doi.org/10.1210/clinem/dgaa257DOI Listing

ADRENAL INCIDENTALOMA, BREAST CANCER AND UNRECOGNIZED MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.

Authors:
S H Kim J H Park

Acta Endocrinol (Buchar) 2019 Oct-Dec;15(4):513-517

Jeonbuk National University Medical School - Department of Internal Medicine, Jeonju, Republic of Korea.

Background: The incidence of adrenal incidentaloma has been increasing proportional to the use of radiologic examination. Multiple endocrine neoplasia1 (MEN1) syndrome may present with various tumors. The present study reports a case of adrenal incidentaloma with unrecognised MEN1 syndrome associated with breast cancer. Read More

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http://dx.doi.org/10.4183/aeb.2019.513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200108PMC

Health-related quality of life in patients with Multiple Endocrine Neoplasia type 1.

Neuroendocrinology 2020 May 4. Epub 2020 May 4.

Introduction: Multiple Endocrine Neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome characterized by the triad of primary hyperparathyroidism (pHPT), duodenopancreatic neuroendocrine tumors (pNETs) and pituitary tumors. Patients are confronted with substantial morbidity and are consequently at risk for an impaired quality of life (QOL). Meticulous assessment of QOL and associated factors in a representative population is needed to understand the full spectrum of the burden of the disease. Read More

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http://dx.doi.org/10.1159/000508374DOI Listing

Surgery for multiple endocrine neoplasia type 1-related insulinoma: long-term outcomes in a large international cohort.

Br J Surg 2020 Apr 30. Epub 2020 Apr 30.

Department of Endocrine Surgical Oncology, Utrecht, the Netherlands.

Background: Insulinomas are found in 10-15 per cent of patients with multiple endocrine neoplasia type 1 (MEN1) and lead to life-threatening hypoglycaemia. Surgical outcome and the optimal surgical strategy for MEN1-related insulinoma are unknown.

Methods: Patients with MEN1-related insulinomas were identified in 46 centres in Europe and North America between 1990 and 2016. Read More

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http://dx.doi.org/10.1002/bjs.11632DOI Listing

Editorial: Early Genetic and Clinical Diagnosis in MEN1.

Front Endocrinol (Lausanne) 2020 15;11:218. Epub 2020 Apr 15.

Sector Endocrinology, Department of Internal Medicine, ENETS Centre of Excellence, Erasmus MC Cancer Institute, Erasmus MC - University Medical Center, Rotterdam, Netherlands.

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http://dx.doi.org/10.3389/fendo.2020.00218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174644PMC

Combined 68Ga-DOTATOC and 18F-FDG PET Predicts a Double Component With Different Grade of a Pancreatic Neuroendocrine Tumor in a Patient With Multiple Endocrine Neoplasia Type 1.

Clin Nucl Med 2020 Jun;45(6):e281-e282

From the Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University.

Managing decisions of pancreatic neuroendocrine tumors (pNETs) can be challenging because of different clinical presentations and prognosis. A 31-year-old woman with multiple endocrine neoplasia type 1, including a suspicious pNET, was assessed with Ga-DOTATOC and F-FDG PET. A high Ga-DOTATOC uptake was visualized in the entire pNET, whereas a high F-FDG PET uptake was present only in the upper part of the tumor. Read More

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http://dx.doi.org/10.1097/RLU.0000000000003020DOI Listing

Genetic background influences tumour development in heterozygous Men1 knockout mice.

Endocr Connect 2020 May;9(5):426-437

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK.

Multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder caused by MEN1 germline mutations, is characterised by parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP), a milder condition causing hyperparathyroidism only. Identical mutations can cause either MEN1 or FIHP in different families, thereby implicating a role for genetic modifiers in altering phenotypic expression of tumours. Read More

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http://dx.doi.org/10.1530/EC-20-0103DOI Listing

Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.

J Clin Endocrinol Metab 2020 Jun;105(6)

Academic Endocrine Unit, OCDEM, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford, UK.

Context: Clinical multiple endocrine neoplasia type 1 (MEN-1) is diagnosed by the presence of at least 2 MEN-1-associated tumors. Many patients with acromegaly and clinical MEN-1 yield negative testing for MEN1 mutations. While cases of acromegaly and primary hyperparathyroidism (PHP) with negative genetic testing have been reported, its prevalence among patients with acromegaly is undetermined, and the clinical presentation has not been well characterized. Read More

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http://dx.doi.org/10.1210/clinem/dgaa142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7180000PMC

Expression of additional transcription factors is of prognostic value for aggressive behavior of pituitary adenomas.

J Neurosurg 2020 Apr 17:1-8. Epub 2020 Apr 17.

1Department of Neurosurgery.

Objective: According to the latest WHO classification of tumors of endocrine organs in 2017, plurihormonal adenomas are subclassified by their transcription factor (TF) expression. In the group of plurihormonal adenomas with unusual immunohistochemical combinations (PAWUC), the authors identified a large fraction of adenomas expressing TFs for gonadotroph adenoma (TFGA) cells in addition to other TFs. The aim of this study was to compare clinicopathological parameters of PAWUC with TFGA expression to gonadotroph adenomas that only express TFGA. Read More

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http://dx.doi.org/10.3171/2020.2.JNS2018DOI Listing

Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas.

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Department of Endocrinology, CHU de Liège, Liège Université, Liège, Belgium.

Pituitary adenomas are benign tumors with variable functional characteristics that can have a significant impact on patients. The majority arise sporadically, but an inherited genetic susceptibility is increasingly being recognized. Recent advances in genetics have widened the scope of our understanding of pituitary tumorigenesis. Read More

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http://dx.doi.org/10.1055/a-1143-5930DOI Listing

Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients.

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Department of Endocrinology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited endocrine tumor syndrome caused by inactivating variants of the gene. The aim of this study is to explore the clinical and genetic characteristics of four MEN1 patients. We isolated genomic deoxyribonucleic acid from lymphocytes, parathyroid, and thymic tumoral tissue specimens from the MEN1 patients. Read More

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http://dx.doi.org/10.1055/a-1147-1375DOI Listing
April 2020
2.121 Impact Factor

[Clinical and genetic studies of a three-member familial isolated pituitary adenoma with homogeneous prolactinomas].

Medicina (B Aires) 2020 ;80(2):181-184

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liege, Liege, Belgium. E-mail:

Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. Read More

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January 2020

Clinicopathological features and menin expression of pancreatic neuroendocrine neoplasm associated with multiple endocrine neoplasia type 1.

J Hepatobiliary Pancreat Sci 2020 Apr 11. Epub 2020 Apr 11.

Department of Gastroenterological Surgery, Graduate School of Life Sciences, Kumamoto University, Kumamoto, Japan.

Background/purpose: We examined therapeutic strategies for pancreatic neuroendocrine neoplasm (pNEN) associated with MEN1 (M-pNEN) by investigating clinicopathological features and menin expression.

Methods: Seventy-seven patients who underwent resection of pNEN at our department from January 2001 to December 2017 were retrospectively analyzed. Immunohistochemical analysis of menin was performed using resected specimens. Read More

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http://dx.doi.org/10.1002/jhbp.739DOI Listing

Bone Metabolism and Vitamin D Implication in Gastroenteropancreatic Neuroendocrine Tumors.

Nutrients 2020 Apr 8;12(4). Epub 2020 Apr 8.

Department of Clinical Medicine and Surgery, Federico II University, 80131 Naples, Italy.

Patients affected by gastroenteropancreatic-neuroendocrine tumors (GEP-NETs) have an increased risk of developing osteopenia and osteoporosis, as several factors impact on bone metabolism in these patients. In fact, besides the direct effect of bone metastasis, bone health can be affected by hormone hypersecretion (including serotonin, cortisol, and parathyroid hormone-related protein), specific microRNAs, nutritional status (which in turn could be affected by medical and surgical treatments), and vitamin D deficiency. In patients with multiple endocrine neoplasia type 1 (MEN1), a hereditary syndrome associated with NET occurrence, bone damage may carry other consequences. Read More

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http://dx.doi.org/10.3390/nu12041021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230756PMC

Pituitary adenomas in the setting of multiple endocrine neoplasia type 1: a single-institution experience.

J Neurosurg 2020 Apr 3:1-7. Epub 2020 Apr 3.

Departments of1Neurological Surgery.

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal-dominant tumor disorder characterized by the development of pituitary tumors and other endocrine neoplasms. Diagnosis is made clinically based on the development of 2 or more canonical lesions (parathyroid gland, anterior pituitary, and enteropancreatic tumors) or in family members of a patient with a clinical diagnosis of MEN1 and the occurrence of one of the MEN1-associated tumors. The goal of this study was to characterize pituitary tumors arising in the setting of MEN1 at a single institution. Read More

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http://dx.doi.org/10.3171/2020.1.JNS193538DOI Listing

Bilateral giant parathyroid adenoma in the absence of multiple endocrine neoplasia type 1.

Ann R Coll Surg Engl 2020 Apr 1:e1-e4. Epub 2020 Apr 1.

United Lincolnshire Hospitals NHS Trust, UK.

Introduction: Bilateral giant parathyroid adenoma in the absence of multiple endocrine neoplasia (MEN) type 1 is extremely rare and literature on this subject is limited.

Case History: A 79-year-old man presented with acute kidney injury secondary to hypercalcaemia. Blood test results indicated primary hyperparathyroidism. Read More

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http://dx.doi.org/10.1308/rcsann.2020.0043DOI Listing

Prognostic factors for the outcome of nonfunctioning pancreatic neuroendocrine tumors in MEN1: a systematic review of literature.

Endocr Relat Cancer 2020 Jun;27(6):R145-R161

Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.

Metastatic duodenopancreatic neuro-endocrine tumors (dpNETs) are the most important disease-related cause of death in patients with multiple endocrine neoplasia type 1 (MEN1). Nonfunctioning pNETs (NF-pNETs) are highly prevalent in MEN1 and clinically heterogeneous. Therefore, management is controversial. Read More

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http://dx.doi.org/10.1530/ERC-19-0372DOI Listing

Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both and Germline Mutations.

J Endocr Soc 2020 Apr 18;4(4):bvaa020. Epub 2020 Feb 18.

Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.

The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- and MEN2A-associated conditions. Genetic testing showed the patient had a novel loss-of-function mutation, c0. Read More

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http://dx.doi.org/10.1210/jendso/bvaa020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067549PMC

18F-FDOPA PET/CT accurately identifies MEN1-associated pheochromocytoma.

Endocrinol Diabetes Metab Case Rep 2020 Mar 3;2020. Epub 2020 Mar 3.

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK).

Summary: Pheochromocytoma (PHEO) in multiple endocrine neoplasia type 1 (MEN1) is extremely rare. The incidence is reported as less than 2%. We report a case of a 76-year-old male with familial MEN1 who was found to have unilateral PHEO. Read More

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http://dx.doi.org/10.1530/EDM-19-0156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077596PMC

p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report.

BMC Neurol 2020 Mar 4;20(1):76. Epub 2020 Mar 4.

Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder arising from mutations of the MEN1 tumor suppressor gene on chromosome 11q13; MEN1 is characterized by the development of neuroendocrine tumors, including those of the parathyroid, gastrointestinal endocrine tissue and anterior pituitary. Additionally, thymic neuroendocrine tumors in MEN1 are also rarely reported.

Case Presentation: This case report observed a family that presented with MEN1 p. Read More

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http://dx.doi.org/10.1186/s12883-020-01659-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055077PMC

Triple tracer positivity in metastatic lymph nodes from well-differentiated neuroendocrine tumor in MEN 1 syndrome.

J Nucl Med Technol 2020 Feb 28. Epub 2020 Feb 28.

PGIMER, India.

Patients with multiple endocrine neoplasia type-1 (MEN-1) usually have combination of endocrine disorders due to lesions in pancreas, parathyroid and pituitary glands. Functional imaging using different tracers in addition to conventional imaging are employed in localizing the primary sites, disease extent and lesions characterization. Here is a diagnosed case of MEN-1 syndrome with interesting incidental imaging findings showing Tc-sestamibi and F-choline uptakes in addition to Ga-DOTANOC uptake in metastatic mediastinal and cervical lymph nodes arising from gastro-entro-pancreatic neuroendocrine tumor (GEP NET). Read More

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http://dx.doi.org/10.2967/jnmt.119.237339DOI Listing
February 2020

Gender Differences in Multiple Endocrine Neoplasia Type 1: Implications for Screening?

Visc Med 2020 Feb 24;36(1):3-9. Epub 2020 Jan 24.

Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany.

Background: Some gender-related differences have been reported in multiple endocrine neoplasia type 1 (MEN1), although not all reports are conclusive. This systematic review with analysis of the own MEN1 cohort evaluates gender differences and potential consequences for screening.

Methods: A systematic review of the literature between 1990 and 2019 with the search terms "MEN1" or "multiple endocrine neoplasia type 1" and "gender" or "sex" was performed. Read More

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http://dx.doi.org/10.1159/000505498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036590PMC
February 2020

Simultaneous resection of thymic and bronchial carcinoid tumors in a patient diagnosed with multiple endocrine neoplasia type 1.

Turk Gogus Kalp Damar Cerrahisi Derg 2019 Jul 21;27(3):407-410. Epub 2019 Jun 21.

Department of Thoracic Surgery, Hacettepe University Medical Faculty, Ankara, Turkey.

Thymic carcinoid tumors are rare tumors which may be associated with multiple endocrine neoplasia type 1. Bronchial carcinoids are also rare tumors and associated with multiple endocrine neoplasia type 1. Coexisting of thymic and bronchial carcinoid tumors in this case is extremely rare. Read More

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http://dx.doi.org/10.5606/tgkdc.dergisi.2019.17748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021414PMC

[Intraoperative measurement of parathyroid hormone in hyperparathyroidism].

Chirurg 2020 Feb 12. Epub 2020 Feb 12.

Klinik für Viszeral‑, Gefäß- und Endokrine Chirurgie, Universitätsklinikum Halle, Martin-Luther Universität Halle-Wittenberg, Ernst-Grube-Straße 40, 06120, Halle an der Saale, Deutschland.

Intraoperative parathyroid hormone (IOPTH) determination is based on the short half-life of parathyroid hormone (PTH) and the rapid analytical technology. The IOPTH provides functional information regarding correction of the overproductive state in hyperparathyroidism (HPT) and is superior to macroscopic evaluation of the parathyroid gland (PG) as well as any (intraoperative frozen section) form of histology (so-called biochemical frozen section). In this article the relevance and evaluation of IOPTH is defined for the most important forms of HPT, for primary HPT, renal secondary and tertiary HPT, multiple endocrine neoplasia type 1 (MEN1) and parathyroid carcinoma and clinical scenarios based on the currently available data. Read More

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http://dx.doi.org/10.1007/s00104-020-01123-9DOI Listing
February 2020

[Inherited tumor syndromes of gastroenteropancreatic and thoracic neuroendocrine neoplasms].

Ann Pathol 2020 Apr 5;40(2):120-133. Epub 2020 Feb 5.

Département de biologie et pathologie médicales, institut Gustave-Roussy, 114, rue Edouard-Vaillant, 94805 Villejuif cedex, France. Electronic address:

About 5% of gastroenteropancreatic and thoracic neuroendocrine neoplasms (NENs) arise in the context of an inherited tumour syndrome. The two most frequent syndromes are: multiple endocrine neoplasia type 1 (MEN1), associated with a large spectrum of endocrine and non endocrine tumours, including duodenopancreatic, thymic and bronchial NENs, and the von Hippel-Lindau syndrome VHL, associated with pancreatic NENs. Two inherited syndromes have a low incidence of NENs: neurofibromatosis type 1 (NF1), associated with duodenal somatostatinomas, and tuberous sclerosis (TSC), associated with pancreatic NENs. Read More

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http://dx.doi.org/10.1016/j.annpat.2020.01.002DOI Listing

Comparison of 68Ga-Dotatate PET/CT and 18F-FDOPA PET/CT for the diagnosis of pancreatic neuroendocrine tumors in a MEN1 patient.

Ann Endocrinol (Paris) 2020 Feb 16;81(1):39-43. Epub 2019 Dec 16.

Inserm U1251, service d'endocrinologie, Marseille Medical Genetics, Hôpital de la Conception, Aix-Marseille Université, AP-HM, Marseille, France. Electronic address:

Context: Pancreatic neuroendocrine tumors (PNETs) occur in more than 80% of patients with multiple endocrine neoplasia type 1 (MEN1) syndrome, with predominance of small (<1cm) non-functioning tumors, followed by gastrinomas and insulinomas. Due to their small size, the diagnostic performance of conventional MRI and CT imaging is highly variable, with a real risk of false-negatives. Functional imaging on 111In-DTPA-Octreotide SPECT somatostatin receptor scintigraphy (Octreoscan®) is the modality of choice, but shows only 80% sensitivity. Read More

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http://dx.doi.org/10.1016/j.ando.2019.11.001DOI Listing
February 2020

CO-EXISTENCE OF PRIMARY HYPERPARATHYROIDISM DUE TO MULTIPLE ENDOCRINE NEOPLASIA 1 IN A HYPERCALCEMIC PATIENT WITH GRAVES DISEASE.

AACE Clin Case Rep 2019 Jan-Feb;5(1):e13-e15. Epub 2019 Jan 30.

Objective: Hypercalcemia in a patient with Graves disease can occur in up to 22% of cases. The mechanism is thought to be increased bone resorption. There are more rare causes of hypercalcemia in these patients with hyperthyroidism, such as hyperparathyroidism, which occurs in less than 1% of patients. Read More

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http://dx.doi.org/10.4158/ACCR-2018-0217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876967PMC
January 2019

Proton Pump Inhibitor Use, Hypergastrinemia, and Gastric Carcinoids-What Is the Relationship?

Authors:
Denis M McCarthy

Int J Mol Sci 2020 Jan 19;21(2). Epub 2020 Jan 19.

Departments of Medicine & Biochemistry, Division of Gastroenterology and Hepatology, University of New Mexico School of Medicine and Raymond G. Murphy Veterans Administration Medical Center, 1501 San Pedro Blvd. SE, Albuquerque, NM 87108, USA.

Neuroendocrine tumors (NETs) throughout the body are the focus of much current interest. Most occur in the gastrointestinal tract and have shown a major increase in incidence over the past 30 years, roughly paralleling the world-wide increase in the use of proton pump inhibitor (PPI) drugs. The greatest rise has occurred in gastric carcinoids (g-NETs) arising from enterochromaffin-like (ECL) cells. Read More

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http://dx.doi.org/10.3390/ijms21020662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014182PMC
January 2020

The Relationship of Gastrinoma in MEN 1 to Helicobacter pylori infection.

J Clin Endocrinol Metab 2020 Mar;105(3)

Department of Diabetes and Endocrinology, Royal Hobart Hospital.

Context: Helicobacter pylori and Multiple Endocrine Neoplasia Type 1 (MEN 1) are risk factors for hypergastrinemia. Gastrin-secreting neoplasms of the foregut mucosa are both a source of, and potentially stimulated by, hypergastrinemia.

Objective: To determine the relationship between H pylori exposure and the prevalence and severity of hypergastrinemia in patients with MEN 1. Read More

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http://dx.doi.org/10.1210/clinem/dgaa004DOI Listing

Occult insulinoma, glucagonoma and pancreatic endocrine pseudotumour in a patient with multiple endocrine neoplasia type 1.

Pancreatology 2020 03 24;20(2):293-296. Epub 2019 Dec 24.

Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark; Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Denmark; OPAC, Odense Pancreas Centre, Odense University Hospital, Odense, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.pan.2019.12.017DOI Listing

The Genetics of Pituitary Adenomas.

J Clin Med 2019 Dec 21;9(1). Epub 2019 Dec 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD 20892, USA.

The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), (coding for , mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), (mutated in Carney complex), (involved in X-Linked Acrogigantism or X-LAG), and (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs. Read More

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http://dx.doi.org/10.3390/jcm9010030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019860PMC
December 2019

Gastrinoma in multiple endocrine neoplasia type 1 after total pancreatectomy: A case report.

Medicine (Baltimore) 2019 Dec;98(50):e18275

Outpatient Department, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.

Rationale: Surgery for patients with multiple endocrine neoplasia type 1(MEN-1) related gastrinoma remains controversial and total pancreatectomy (TP) has rarely been performed. We reported a case of patient with MEN-1 related gastrinoma treated by TP.

Patient Concerns: A 46-year-old female was admitted to our hospital due to abdominal distension and diarrhea for 2 years. Read More

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http://dx.doi.org/10.1097/MD.0000000000018275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922403PMC
December 2019

Atypical Thymic Carcinoid in a Patient with Zollinger-Ellison Syndrome.

Korean J Thorac Cardiovasc Surg 2019 Dec 5;52(6):420-424. Epub 2019 Dec 5.

Department of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Atypical thymic carcinoid is an extremely rare tumor with a poor prognosis. In addition to its known association with multiple endocrine neoplasia type 1, its hallmark characteristics include local invasion and early distant metastasis. In this report, we share our experience treating atypical thymic carcinoid in a patient with Zollinger-Ellison syndrome. Read More

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http://dx.doi.org/10.5090/kjtcs.2019.52.6.420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901190PMC
December 2019

[Gastric neuroendocrine tumors].

Khirurgiia (Mosk) 2019 (12):111-120

Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia PA, USA.

Gastrointestinal neuroendocrine tumors are rare neoplasms. Currently, incidence of gastric neuroendocrine tumors (gNETs) is being significantly increased. There are 3 groups of gNETs: types I, II and III. Read More

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http://dx.doi.org/10.17116/hirurgia2019121111DOI Listing
December 2019

Case report: optimal tumor cytoreduction and octreotide with durable disease control in a patient with MEN-1 and Zollinger-Ellison syndrome-over a decade of follow-up.

World J Surg Oncol 2019 Dec 9;17(1):213. Epub 2019 Dec 9.

Department of Surgery, Drexel University College of Medicine, 245 N. 15th Street, Suite 7150, Philadelphia, PA, 19102, USA.

Background: Zollinger-Ellison syndrome (ZES) is a rare condition characterized by hypersecretion of gastrin by gastrinoma tumors leading to severe peptic ulcer disease with potential development of gastric carcinoid tumors. Herein, we report the clinical course of a 68-year-old patient with multiple endocrine neoplasia type 1 (MEN-1) who underwent several surgeries to ultimately undergo optimal tumor cytoreduction of locally advanced gastrinomas and symptomatic gastric carcinoids. The patient was subsequently maintained on octreotide long-acting release (LAR). Read More

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http://dx.doi.org/10.1186/s12957-019-1758-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902565PMC
December 2019

Multimodality Imaging of the Pancreatic Neuroendocrine Tumors.

Semin Ultrasound CT MR 2019 Dec 25;40(6):469-482. Epub 2019 Apr 25.

Department of Radiology, Mount Sinai West, New York, NY.

Pancreatic neuroendocrine tumors (PNETs) are uncommon pancreatic masses which arise from amine precursor and uptake decarboxylation cells. They are classified as functional or nonfunctional based on the associated clinical symptoms. Insulinomas and gastrinomas are the most common functional tumors. Read More

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http://dx.doi.org/10.1053/j.sult.2019.04.005DOI Listing
December 2019

A clinical perspective of parathyroid hormone related hypercalcaemia.

Rev Endocr Metab Disord 2020 03;21(1):77-88

Institute of Cardiovascular Research, Royal Holloway, University of London, Egham, UK.

There are many causes of hypercalcaemia including hyperparathyroidism, drugs, granulomatous disorders and malignancy. Parathyroid hormone (PTH) related hypercalcaemia is most commonly caused by primary hyperparathyroidism (PHPT) and more rarely by familial hypocalciuric hypercalcaemia (FHH). Algorithms for diagnosis of PTH related hypercalcaemia require assessment of a 24-h urinary calcium and creatinine excretion to calculate calcium/creatinine clearance ratio and radiological investigations including ultrasound scan and Tc-sestamibi-SPECT/CT. Read More

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http://dx.doi.org/10.1007/s11154-019-09529-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113199PMC

Parental Multiple Endocrine Neoplasia Type 1 (MEN 1) Is Associated with Increased Offspring Childhood Mortality.

J Clin Endocrinol Metab 2020 Apr;105(4)

Department of Diabetes and Endocrinology, Royal Hobart Hospital, Hobart, Tasmania.

Context: Information regarding the impact of parental multiple endocrine neoplasia type 1 (MEN 1) on neonatal outcomes is limited to case reports.

Objective: To determine the impact of parental MEN 1 on neonatal outcomes.

Methods: Retrospective cohort analysis of the Tasman 1 MEN 1 kindred stratified by whether birth occurred before ("historical cohort") or after ("contemporary cohort") prospective screening commenced. Read More

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http://dx.doi.org/10.1210/clinem/dgz231DOI Listing

Using Structural Analysis to Assess the Impact of Missense Variants in MEN1.

J Endocr Soc 2019 Dec 27;3(12):2258-2275. Epub 2019 Sep 27.

Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, United Kingdom.

Despite the rapid expansion in recent years of databases reporting either benign or pathogenic genetic variations, the interpretation of novel missense variants remains challenging, particularly for clinical or genetic testing laboratories where functional analysis is often unfeasible. Previous studies have shown that thermodynamic analysis of protein structure can discriminate between groups of benign and pathogenic missense variants. However, although structures exist for many human disease‒associated proteins, such analysis remains largely unexploited in clinical laboratories. Read More

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http://dx.doi.org/10.1210/js.2019-00260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6846327PMC
December 2019

Atypical ovarian carcinoid tumor with widespread skeletal metastases: a case report of multiple endocrine neoplasia type 1 in a young woman.

BMC Cancer 2019 Nov 14;19(1):1107. Epub 2019 Nov 14.

Department of Pathology, The Second Hospital of Hebei Medical University, Shijiazhuang City, Hebei Province, 050000, People's Republic of China.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited condition affecting multiple endocrine organs, resulting in significant morbidity and decreased life expectancy. Early tumor identification allows for timely patient management, reduces morbidity, and improves disease outcomes. Patients with MEN1 typically present with primary hyperparathyroidism caused by multiple parathyroid tumors, however, thymic and bronchial carcinoid tumors are also less common manifestations. Read More

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http://dx.doi.org/10.1186/s12885-019-6332-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857273PMC
November 2019

[Multiple endocrine neoplasia type 1: about a case].

Pan Afr Med J 2019 19;33:238. Epub 2019 Jul 19.

Service d'Endocrinologie, Diabétologie et Maladies Métaboliques, CHU Mohamed VI Marrakech, Maroc.

Multiple endocrine neoplasia type 1 (MEN1) is a rare disease, defined as a tumor developing in at least two endocrine glands including the anterior pituitary gland, the parathyroid glands and the duodenopancreatic endocrine tissue. This disorder, inherited in an autosomal dominant pattern, is caused by mutations in the MEN1 gene encoding the tumor suppressor menin and located on chromosome 11q13. However, sporadic cases account for 8-14%. Read More

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http://dx.doi.org/10.11604/pamj.2019.33.238.18053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814935PMC
November 2019
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Gonadotrophin-releasing hormone agonist-induced pituitary adenoma apoplexy and casual finding of a parathyroid carcinoma: A case report and review of literature.

World J Clin Cases 2019 Oct;7(20):3259-3265

Department of Endocrinology, Complejo Hospitalario Universitario A Coruña, A Coruña 15006, Spain.

Background: Pituitary apoplexy represents one of the most serious, life threatening endocrine emergencies that requires immediate management. Gonadotropin-releasing hormone agonist (GnRHa) can induce pituitary apoplexy in those patients who have insidious pituitary adenoma coincidentally.

Case Summary: A 46-year-old woman, with a history of hypertension and menorrhagia was transferred to our hospital from a secondary care hospital after complaints of headache and vomiting, with loss of consciousness 5 min after an injection of GnRHa. Read More

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http://dx.doi.org/10.12998/wjcc.v7.i20.3259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819301PMC
October 2019
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Whole genome sequencing of apparently mutation-negative MEN1 patients.

Eur J Endocrinol 2020 Jan;182(1):35-45

Departments of Surgical Sciences, Uppsala University, Uppsala, Sweden.

Objective: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome usually caused by loss-of-function mutations in the MEN1 gene. However, a minority of patients who fulfill the criteria for MEN1 are not found to harbor MEN1 mutations. Besides, some of these individuals, present with a subtly different phenotype suggestive of sporadic disease. Read More

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http://dx.doi.org/10.1530/EJE-19-0522DOI Listing
January 2020
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Wild-type menin is rapidly degraded via the ubiquitin-proteasome pathway in a rat insulinoma cell line.

Biosci Rep 2019 Oct;39(10)

Diabetes Research Center, School of Medicine, Shenzhen University, Shenzhen 518060, Guangdong, China.

Menin is encoded by multiple endocrine neoplasia type 1 (MEN1) gene, the germ line mutations of which are the main cause of pancreatic neuroendocrine tumors (PNETs). To date, a large number of frameshift, nonsense and missense mutations of MEN1 have been identified to be responsible for part of MEN1-defficient PNETs patients due to truncation or rapid degradation of menin protein. However, the stability of the wild-type (WT) menin in PNETs is totally unknown. Read More

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http://dx.doi.org/10.1042/BSR20190471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822493PMC
October 2019
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Prolonged response to Lu-DOTATATE therapy of a bone marrow infiltration in a refractory thymic neuro endocrine tumor.

Invest New Drugs 2019 Oct 24. Epub 2019 Oct 24.

Department of Nuclear Medicine, Cochin Hospital, AP-HP, 27 Rue du Faubourg Saint-Jacques, 75014, Paris, France.

Thymic neuro endocrine tumor (tNET) are extremely rare malignancies with poor prognosis, requiring investigation of novel therapeutic approaches. Lu-DOTATATE is a successful systemic treatment modality in patients with metastatic gastroenteropancreatic but it role in tNET is not yet well established. Here we report a case of a 39-year-old man with refractory bone marrow infiltration of a tNET, treated by 4 cycles of peptide receptor radionuclide therapy (PRRT) with Lu DOTATATE. Read More

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http://dx.doi.org/10.1007/s10637-019-00865-6DOI Listing
October 2019
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[Successful simultaneous surgery for patient with insulinoma and parathyroid adenoma relevant to multiple endocrine neoplasia type 1: A case report].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2019 Sep;44(9):1083-1088

Department of Metabolism and Endocrinology, The Second Xiangya Hospital, Central South University, Changsha 410011; National Clinical Research Center for Metabolic Diseases, Changsha 410011, China.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder. A 44-year-old man visited second Xiangya Hospital, Central South University due to hypoglycemia. He was eventually diagnosed as MEN1. Read More

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http://dx.doi.org/10.11817/j.issn.1672-7347.2019.190601DOI Listing
September 2019

Impaired geometry, volumetric density, and microstructure of cortical and trabecular bone assessed by HR-pQCT in both sporadic and MEN1-related primary hyperparathyroidism.

Osteoporos Int 2020 Jan 23;31(1):165-173. Epub 2019 Oct 23.

Key laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongdan, Dongcheng district, Beijing, 100730, People's Republic of China.

This study evaluated bone features of PHPT using HR-pQCT. The results showed both cortical and trabecular bones were significantly impaired in PHPT patients. Male and female PHPT patients suffered similar damages in bone. Read More

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http://dx.doi.org/10.1007/s00198-019-05186-1DOI Listing
January 2020
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Single gland excision for MEN1-associated primary hyperparathyroidism.

Clin Endocrinol (Oxf) 2020 Jan 12;92(1):63-70. Epub 2019 Nov 12.

Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany.

Importance: Guidelines advocate subtotal parathyroidectomy (SPTX) or total parathyroidectomy with autotransplantation (TPTX) with bilateral cervical thymectomy for primary hyperparathyroidism (pHPT) associated with multiple endocrine neoplasia type 1 (MEN1). However, both procedures are associated with a significant risk of permanent hypoparathyroidism.

Objective: The aim of the current study was to compare long-term results of either single gland excision (SGE, 1-2 glands), SPTX and TPTX for the treatment of MEN1-associated pHPT. Read More

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http://dx.doi.org/10.1111/cen.14112DOI Listing
January 2020
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Metastatic MEN1 Syndrome Treated with Lutetium-177 - A Case Report.

Eur Endocrinol 2019 Aug 16;15(2):92-94. Epub 2019 Aug 16.

Department of Endocrinology and Metabolism, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumour syndrome characterised by three main manifestations: primary hyperparathyroidism (78-94%), gastroenteropancreatic neuroendocrine tumours (GEP-NETs) (35-78%) and pituitary adenomas (20-65%). For metastatic and inoperable GEP-NETs, there are some interventional and medical therapies. Peptide receptor radionuclide therapy (PRRT) with Yttrium-90 (Y) and Lutetium-177 (Lu) is one of the important radiotherapies. Read More

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http://dx.doi.org/10.17925/EE.2019.15.2.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785959PMC
August 2019
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