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Multiple Endocrine Neoplasia Type 1

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4. Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma

Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma ISSN 2472-1972 Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma Friedhelm Raue 1 and Karin Frank-Raue 1 1 Endocrine Practice Heidelberg, Molecular Genetic Laboratory, 69120 Heidelberg, Germany Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome causedbymissensegain-of-functionmutationsintheRETproto-oncogeneonchromosome10.Specific RET (...) - gories.OtherongoingstudieshaveaimedtoimproveCtndeterminationswithmoresensitiveand/or more specific assaysto facilitateclinical decision-making in early thyroidectomy. Here, we review thecurrentapproachesforperforminggenotype-phenotypecorrelations,withaparticularfocuson the timing of early thyroidectomy and the prognosis of MTC, in different MEN2 risk groups. 1. Search Strategies We conducted a PubMed search of the international literature from the last 10 years with a cutoff of 30 April 2018. The key words included “multiple endocrine neoplasia type 2,”“medullary thyroid

2018 Pediatric Endocrine Society

5. Visualization of Macroprolactinoma by 18F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1 (PubMed)

Visualization of Macroprolactinoma by 18F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1 30302421 2018 11 14 2472-1972 2 10 2018 Oct 01 Journal of the Endocrine Society J Endocr Soc Visualization of Macroprolactinoma by 18 F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1. 1170-1172 10.1210/js.2018-00193 Paepegaey Anne-Cécile AC 0000-0003-4250-5771 Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris (...) Descartes University, Paris, France. Gaujoux Sébastien S Department of Endocrine Surgery, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris, France. Cottereau Anne-Ségolène AS Department of Nuclear Medicine, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris, France. Groussin Lionel L 0000-0003-1476-475X Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris

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2018 Journal of the Endocrine Society

6. Subtotal versus total parathyroidectomy for primary hyperparathyroidism in multiple endocrine neoplasia type 1: a systematic review update

Subtotal versus total parathyroidectomy for primary hyperparathyroidism in multiple endocrine neoplasia type 1: a systematic review update Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration (...) criteria: Example: Screening will be performed in two phases, namely initial screening based on title and abstract, followed by full-text screening of the eligible articles for final inclusion. In each phase, 2 observers will independently assess each article. Discrepancies will be resolved through discussion, or by consulting a third investigator. ">Procedure for study selection Example : Title-abstract screening: 1. Not an original full research paper (e.g. review, editorial) 2. Not an in vivo animal

2019 PROSPERO

7. Multiple endocrine neoplasia syndromes

Multiple endocrine neoplasia syndromes Multiple endocrine neoplasia syndromes - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Multiple endocrine neoplasia syndromes Last reviewed: February 2019 Last updated: February 2018 Summary Hereditary tumour syndromes with distinct patterns of organ involvement. Mutations in the MEN1 gene typically cause type 1 multiple endocrine neoplasia (MEN1), and mutations in the RET proto (...) -oncogene typically cause type 2 multiple endocrine neoplasia (MEN2). Prophylactic thyroidectomy in childhood is indicated in MEN2. Medical management of hormonal hypersecretion is important for symptom control. Most tumours require surgical evaluation, although surgical cure is not always possible. Genetic carriers require lifelong monitoring, even after successful operations. Morbidity and mortality result from both hormonal hypersecretion and metastases. Definition Multiple endocrine neoplasia (MEN

2018 BMJ Best Practice

8. Chemoprevention with Somatuline© Delays the Progression of Pancreatic Neuroendocrine Neoplasms in a Mouse Model of Multiple Endocrine Neoplasia Type 1 (MEN1). (PubMed)

Chemoprevention with Somatuline© Delays the Progression of Pancreatic Neuroendocrine Neoplasms in a Mouse Model of Multiple Endocrine Neoplasia Type 1 (MEN1). Long-acting synthetic somatostatin analogues (SSA) are an essential part of the treatment of neuroendocrine neoplasms. We evaluated the chemopreventive effects of a long-acting somatostatin analogue on the development of pancreatic neuroendocrine neoplasms (pNENs) in a genetically engineered MEN1 knockout mouse model.Heterozygote MEN1

2019 World Journal of Surgery

9. Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1: A GTE and AFCE Cohort Study (Groupe d'étude des Tumeurs Endocrines and Association Francophone de Chirurgie Endocrinienne). (PubMed)

Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1: A GTE and AFCE Cohort Study (Groupe d'étude des Tumeurs Endocrines and Association Francophone de Chirurgie Endocrinienne). To assess the distant metastatic potential of duodeno-pancreatic neuroendocrine tumors (DP-NETs) in patients with MEN1, according to functional status and size.DP-NETs, with their numerous lesions and endocrine secretion-related symptoms, continue to be a medical (...) challenge; unfortunately they can become aggressive tumors associated with distant metastasis, shortening survival. The survival of patients with large nonfunctional DP-NETs is known to be poor, but the overall contribution of DP-NETs to metastatic spread is poorly known.The study population included patients with DP-NETs diagnosed after 1990 and followed in the MEN1 cohort of the Groupe d'étude des Tumeurs Endocrines (GTE). A multistate Markov piecewise constant intensities model was applied

2018 Annals of Surgery

10. Metastatic multiple endocrine neoplasia type 1: report of one case (PubMed)

Metastatic multiple endocrine neoplasia type 1: report of one case A 46-year-old Chinese woman was admitted to our hospital because of presence of space-occupying lesions in the liver for 2 months in April, 2015. She had a family history of multiple endocrine neoplasia type 1 (MEN1) and physical examination is unremarkable. Previously, she has performed surgery for primary pituitary tumor in 2002 and radiosurgery for its recurrence. Around December 2014, she suffered from abdominal discomfort (...) associated with regurgitation and gastroscopy revealed "gastroduodenal ulcers", along with elevated gastrin. Next, both magnetic resonance and computed tomography imaging showed multiple intrahepatic lesions, the PET-CT unveiled uptake pattern of 18F-FDG in duodenum and multiple intrahepatic lesions, resembling the appearance of metastatic gastrinoma. The octreotide scan gave identical results. The parathyroid SPECT scans showed abnormal concentrations of radioactivity in right parathyroid. She also had

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2016 Translational gastroenterology and hepatology

11. Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma (PubMed)

Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations in the RET proto-oncogene on chromosome 10. Specific RET mutations can predispose toward a particular phenotype and clinical course, with strong genotype-phenotype correlations. MEN2 is highly penetrant in medullary thyroid carcinoma (MTC), and it can be associated

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2018 Journal of the Endocrine Society

12. Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1 (PubMed)

Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1 Nonfunctional pancreatic neuroendocrine tumors (NF-pNETs) in patients with multiple endocrine neoplasia type 1 (MEN1), which results from a mutation in the MEN1 gene, are commonly small, multiple tumors located in the pancreatic head and inside the pancreatic parenchyma. We herein describe a 35-year-old woman with bone pain and a 7-year history of a prolactinoma

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2017 The Journal of international medical research

13. Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1 (PubMed)

Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1 30065698 2018 11 14 1664-2392 9 2018 Frontiers in endocrinology Front Endocrinol (Lausanne) Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1. 359 10.3389/fendo.2018.00359 Marx Stephen J SJ Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD (...) Endocrinol Metab. 2014 Oct;99(10):3561-9 25162665 Int J Endocrinol. 2010;2010:906163 20585352 J Bone Miner Res. 2010 Nov;25(11):2382-91 20499354 QJM. 1996 Sep;89(9):653-69 8917740 Cancer Genet. 2016 Jan-Feb;209(1-2):36-41 26767918 Eur J Endocrinol. 2014 Aug;171(2):K7-K17 24819502 Case Rep Endocrinol. 2015;2015:510985 26257968 J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011 22723327 Pathobiology. 2007;74(5):279-84 17890894 Am J Pathol. 2002 Oct;161(4):1299-306 12368203 Endocrine. 2016 Jun;52(3):495-506

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2018 Frontiers in endocrinology

14. Recent Topics Around Multiple Endocrine Neoplasia Type 1. (PubMed)

Recent Topics Around Multiple Endocrine Neoplasia Type 1. Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are presented for their developments since publication of the most recent MEN1 consensus guidelines 6 years ago.Topics were selected for clinical impact or broad interest or both. For each topic, information was obtained from original reports (...) and reviews.The selected topics are as follows: tumor behavior and breast cancer in MEN1; foregut neuroectoderm tumor screening, biomarkers periodically to detect tumor emergence of foregut neuroectoderm tumors, 68Ga dotatate positron emission tomography/computed tomography for pancreatic and duodenal neuroectodermal tumor imaging, and glucagon-like peptide-1 receptor scintigraphy for insulinoma; therapy, the size of pancreatic neuroendocrine tumor (NET) as one criterion for surgery, minimally invasive

2018 Journal of Clinical Endocrinology and Metabolism

15. High fear of disease occurrence is associated with low quality of life in patients with Multiple Endocrine Neoplasia type 1 (MEN1): Results from the Dutch MEN1 Study Group. (PubMed)

High fear of disease occurrence is associated with low quality of life in patients with Multiple Endocrine Neoplasia type 1 (MEN1): Results from the Dutch MEN1 Study Group. Multiple endocrine neoplasia type 1 (MEN1) is a hereditary disease characterized by a high risk of developing primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors, and pituitary tumors (PITs). It is unclear if having MEN1 leads to psychological distress because of fear of disease occurrence (FDO), thereby

2018 Journal of Clinical Endocrinology and Metabolism

16. Germline and somatic mosaicism in a family with Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. (PubMed)

Germline and somatic mosaicism in a family with Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1 and can be diagnosed based on clinical, familial and/or genetic criteria. We present a family in which we found both germline and somatic mosaicism for MEN1. Family description In our proband, we diagnosed MEN1. The mutation was not detected in her parents

2018 European Journal of Endocrinology

17. Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence (PubMed)

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant disease that generally presents with primary hyperparathyroidism. However, initial presentation may vary and continued reevaluation of etiology of symptoms is required for appropriate diagnosis.Twelve year old female presented with altered mental status that self-resolved and hypoglycemia. Laboratory evaluation (...) be investigated for other potential endocrine tumors. Multiple imaging modalities may be required to confidently identify neuroendocrine tumors for appropriate surgical intervention.

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2018 International journal of pediatric endocrinology

18. Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients (PubMed)

Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. Disease onset, penetrance, clinical presentation, course and prognosis are all extremely variable, even among individuals (...) for Inherited Endocrine Tumours of the Tuscany Region, during the last three decades. We reported, here, the results of clinical, epidemiological and genetic descriptive statistics, as well as correlation analyses between tumours and mutation types and localisation. No direct genotype-phenotype correlation was described, but the importance of the genetic testing was confirmed for an early diagnosis and the identification of asymptomatic carriers.As with all rare diseases, the possibility to collect

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2018 Orphanet journal of rare diseases

19. ‘Quality in, quality out’, a stepwise approach to evidence-based medicine for rare diseases promoted by multiple endocrine neoplasia type 1 (PubMed)

‘Quality in, quality out’, a stepwise approach to evidence-based medicine for rare diseases promoted by multiple endocrine neoplasia type 1 Rare diseases pose specific challenges in the field of medical research to provide physicians with evidence based guidelines derived from studies with sufficient quality. An example of these rare diseases is multiple endocrine neoplasia type 1 (MEN1), which is an autosomal dominant endocrine tumor syndrome with an estimated occurrence rate of 2-3 per (...) 100.000. For this complex disease, characterized by multiple endocrine tumors, it proves difficult to perform both adequate and feasible studies. The opinion of patients themselves is of utmost importance to identify the gaps in the evidence based medicine regarding clinical care. In the search for scientific answers to clinical research questions, the aim for best available evidence is obvious. Observational studies within patient cohorts, although prone to bias, seem the most feasible study design

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2018 Endocrine connections

20. Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications (PubMed)

Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications Background: The choice of surgical treatment for patients with Multiple Endocrine Neoplasia type 1 (MEN1)-related primary hyperparathyroidism (PHPT) remains controversial and it has not been specifically addressed in young patients. Methods: This is a retrospective case series study. The study includes (...) the surgical data and the follow-up of 38 patients younger than 30 years of age, all diagnosed with MEN1, collected and followed-up between 1991 and 2017 at the Regional Referral Center for Inherited Endocrine Tumors of the Tuscany Region, and operated by parathyroidectomy. Genetic and/or clinical MEN1 diagnosis was made before surgery in all patients. Subtotal (9/38 patients) or total parathyroidectomy with auto-transplantation (28/38 patients) were performed in all patients but one, in whom a single

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2018 Frontiers in endocrinology

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