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Multiple Endocrine Neoplasia Type 1

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41. Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1 (PubMed)

Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1 A 53-year-old woman developed end-stage renal failure during a 15-year clinical course of primary hyperparathyroidism and was referred to our hospital for evaluation of suspected multiple endocrine neoplasia type 1 (MEN1). Genetic testing revealed a novel deletion mutation at codon 467 in exon 10 of the MEN1 gene. Systemic and selective

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2017 Internal Medicine

42. Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old (PubMed)

Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old Despite its identification in 1997, the functions of the MEN1 gene-the main gene underlying multiple endocrine neoplasia type 1 syndrome-are not yet fully understood. In addition, unlike the RET-MEN2 causative gene-no hot-spot mutational areas or genotype-phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private" (family specific). Even when

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2017 F1000Research

43. A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1 (PubMed)

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1 28203045 2018 11 13 0918-5739 26 1 2017 Jan Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology Clin Pediatr Endocrinol A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1. 25-28 10.1297/cpe.26.25 Itoh Masatsune M Department of Pediatrics, Kanazawa Medical University, Ishikawa (...) , Japan. Saikawa Yutaka Y Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan. eng Journal Article 2017 01 31 Japan Clin Pediatr Endocrinol 9433330 0918-5739 adolescent missense mutation multiple endocrine neoplasia type 1 (MEN1) 2016 05 19 2016 09 16 2017 2 17 6 0 2017 2 17 6 0 2017 2 17 6 1 ppublish 28203045 10.1297/cpe.26.25 2016-0015 PMC5295248 Clin Endocrinol (Oxf). 2012 Apr;76(4):533-9 21950691 Endocr J. 2012;59(10):859-66 22785103 Mol Cell Endocrinol. 2014 Apr 5;386(1-2):2-15

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2017 Clinical Pediatric Endocrinology

44. Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. (PubMed)

Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B (...) ) syndromes. The common and necessary nexus that defines these 2 phenotypes is the presence of medullary thyroid carcinoma (MTC). The familial MTC type of MEN 2 syndrome was included within the spectrum of MEN 2A syndrome. Cutaneous manifestations of MEN 2A syndrome include macular amyloidosis, whereas MEN 2B syndrome is traditionally linked to multiple mucosal neuromas.To describe a family with cutaneous manifestations not previously described in patients with MEN 2A syndrome and to discuss

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2017 JAMA dermatology (Chicago, Ill.)

45. Pregnancy in multiple endocrine neoplasia type 1 equals multiple complications (PubMed)

Pregnancy in multiple endocrine neoplasia type 1 equals multiple complications Multiple endocrine neoplasia type 1 (MEN 1) is a rare inherited disorder caused by mutations in the tumour suppressor gene MEN 1. It is characterised by a predisposition towards the development of parathyroid, anterior pituitary and entero-pancreatic tumours. Clinically, MEN 1 is defined following development of two out of these three tumours. There have been no published cases of the management of MEN 1 in pregnancy (...) . We report the first case of a 31-year-old primigravida with a confirmed diagnosis of MEN 1 prior to conception. Due to the rare nature of MEN 1, there are no guidelines on how such women should be managed. The main issues were to assess and manage potential complications, such as hypercalcaemia, diabetes mellitus and the symptoms from a pituitary tumour as well the issues around a gastrinoma and monitor fetal well-being. A Caesarean section was performed at 35 weeks gestation for a growth

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2014 Obstetric medicine

46. Non-mammalian models of multiple endocrine neoplasia type 2. (PubMed)

Non-mammalian models of multiple endocrine neoplasia type 2. Twenty-five years ago, RET was identified as the primary driver of multiple endocrine neoplasia type 2 (MEN2) syndrome. MEN2 is characterized by several transformation events including pheochromocytoma, parathyroid adenoma and, especially penetrant, medullary thyroid carcinoma (MTC). Overall, MTC is a rare but aggressive type of thyroid cancer for which no effective treatment currently exists. Surgery, radiation, radioisotope

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2018 Endocrine-Related Cancer

47. Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. (PubMed)

Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. The revised guidelines for the management of medullary thyroid carcinoma recommend that genetic counseling regarding reproductive options, including preimplantation genetic diagnosis (PGD), be considered for all RET mutation carriers of reproductive age to avoid the transmission of multiple endocrine neoplasia type 2 (MEN2). However, the high complexity and cost (...) of PGD have hindered its widespread use. Thus, it is necessary to establish a simple and relatively inexpensive method to facilitate the PGD of MEN2.A customized Nimblegen EZ sequence capture array was designed to capture the targeted regions, including the RET gene, and 1 Mb range on each side of the RET gene. Targeted, capture-based next-generation sequencing of three members of one family with MEN2A (the couple and the paternal father) was conducted to identify the informative markers

2018 Thyroid

48. Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. (PubMed)

Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. In patients with multiple endocrine neoplasia type 2 (MEN2) syndrome, genetic testing offers early diagnosis, stratifies the risk of developing medullary thyroid cancer (MTC) and informs the timing of thyroidectomy. The efficacy of treatment, which depends on timely and safe surgery, is not well established.This was a retrospective review of diagnostic and clinicopathological outcomes of prophylactic thyroidectomy (...) on pathology correlated with late genetic testing. Twenty-five children had lymphadenectomy; these patients had more parathyroid glands excised (mean difference 0·61, 95 per cent c.i. 0·24 to 0·98; P = 0·001), and were more likely to have hypocalcaemia requiring medication (relative risk (RR) 3·12, 95 per cent c.i. 1·54 to 6·32; P = 0·002) and permanent hypoparathyroidism (RR 3·24, 1·29 to 8·11; P = 0·010) compared with those who underwent total thyroidectomy alone. Age did not influence the development

2018 British Journal of Surgery

49. Pheochromocytoma in children and adolescents with multiple endocrine neoplasia type 2B. (PubMed)

Pheochromocytoma in children and adolescents with multiple endocrine neoplasia type 2B. Multiple endocrine neoplasia type 2B (MEN2B) is characterized by early-onset medullary thyroid cancer in virtually all cases and a 50% lifetime risk of pheochromocytoma (PHEO) development. The literature on PHEO in patients with MEN2B is limited with most data being reported from adult studies that primarily address MEN2A.The aim of the current study is to describe PHEO development in a cohort of pediatric

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2018 Journal of Clinical Endocrinology and Metabolism

50. Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years. (PubMed)

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years. We describe the presenting symptoms and signs of multiple endocrine neoplasia type 2B in a cohort of children. Improved awareness of the early nonendocrine signs of multiple endocrine neoplasia type 2B could lead to earlier diagnosis before the development of medullary thyroid cancer and possibly its metastasis.Copyright © 2018. Published by Elsevier Inc.

2018 Journal of Pediatrics

51. Concomitant existence of pheochromocytoma in a patient with multiple endocrine neoplasia type 1 (PubMed)

Concomitant existence of pheochromocytoma in a patient with multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant inherited disorder that is classically characterized by the presence of neoplastic lesions of the parathyroid glands, the anterior pituitary gland, and the pancreas. However, MEN1 with concomitant pheochromocytoma is extremely rare.We report a case of MEN1 concomitant with pheochromocytoma. A 44-year-old Japanese man, who had (...) undergone total parathyroidectomy due to primary hyperparathyroidism at the age of 18, was referred to our hospital with a complaint of a large abdominal tumor. He was diagnosed as having a giant insulinoma (maximum diameter 18 cm) in the pancreatic tail, five other non-functional neuroendocrine tumors in the pancreatic body and tail, multiple liver metastases of pancreatic neuroendocrine tumors, a pituitary prolactinoma, non-functional adrenal cortical adenomas, a pheochromocytoma in addition

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2016 Surgical Case Reports

52. Growth rate of small pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: results from an endoscopic ultrasound based cohort study. (PubMed)

Growth rate of small pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: results from an endoscopic ultrasound based cohort study. Background and aims In multiple endocrine neoplasia type 1 (MEN1), endoscopic ultrasound (EUS) is used for identification and follow-up of pancreatic neuroendocrine tumors (PNETs). The role of EUS in surveillance of small ( < 20 mm) PNETs is unclear, mostly because the natural course of these lesions is largely unknown. We aimed to determine

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2016 Endoscopy

53. Assessing for multiple endocrine neoplasia type 1 in patients evaluated for Zollinger-Ellison Syndrome - clues to a safer diagnostic process. (PubMed)

Assessing for multiple endocrine neoplasia type 1 in patients evaluated for Zollinger-Ellison Syndrome - clues to a safer diagnostic process. Zollinger-Ellison syndrome is a rare cause of tumoral hypergastrinemia; 1 of 5 patients with this syndrome also has multiple endocrine neoplasia type 1. The diagnosis of this disease is complicated by the widespread use of proton pump inhibitors that can elevate serum gastrin levels, the cornerstone for biochemical diagnosis. Abrupt discontinuation (...) of proton pump inhibitors could lead to adverse outcomes. Clinician awareness of the relationship between Zollinger-Ellison syndrome and multiple endocrine neoplasia type 1 could lead to a safer diagnostic pathway.We conducted a retrospective review of a cohort of patients with multiple endocrine neoplasia type 1.There were 287 patients with multiple endocrine neoplasia type 1 (73 with gastrinoma) evaluated between 1997 and 2014. Two patients experienced adverse events after proton pump inhibitor

2016 American Journal of Medicine

54. Pasireotide therapy of Multiple Endocrine Neoplasia type 1 (MEN1)-associated neuroendocrine tumors (NETs) in female mice deleted for an Men1 allele (Men1<sup>+/-</sup>) improves survival and reduces tumor progression. (PubMed)

Pasireotide therapy of Multiple Endocrine Neoplasia type 1 (MEN1)-associated neuroendocrine tumors (NETs) in female mice deleted for an Men1 allele (Men1+/-) improves survival and reduces tumor progression. Pasireotide, a somatostatin analog, is reported to have anti-proliferative effects in neuroendocrine tumors (NETs). We therefore assessed the efficacy of pasireotide for treating pancreatic and pituitary NETs that develop in a mouse model of multiple endocrine neoplasia type 1 (...) (MEN1). Men1(+/-) mice were treated from age 12 mo with 40 mg/kg pasireotide long-acting release formulation, or PBS, intramuscularly monthly for 9 mo. The Men1(+/-) mice had magnetic resonance imaging at 12 and 21 mo, and from 20 mo oral 5-bromo-2-deoxyuridine for 1 mo, to assess tumor development and proliferation, respectively. NETs were collected at age 21 mo, and proliferation and apoptosis assessed by immunohistochemistry and TUNEL assays, respectively. Pasireotide-treated Men1(+/-) mice had

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2016 Endocrinology

55. Minimally Invasive Versus Open Pancreatic Surgery in Patients with Multiple Endocrine Neoplasia Type 1. (PubMed)

Minimally Invasive Versus Open Pancreatic Surgery in Patients with Multiple Endocrine Neoplasia Type 1. The role of minimally invasive pancreatic surgery for pancreatic neuroendocrine neoplasms (pNENs) in patients with multiple endocrine neoplasia type 1 (MEN1) is not well defined. The aim of this study was to compare the outcome of minimally invasive versus open pancreatic resections in patients with MEN1.Prospectively collected data of MEN1 patients who underwent a primary distal pancreatic (...) resection and/or enucleation for non-functioning pNENs or insulinoma were retrospectively analyzed regarding the outcome of minimally invasive or open pancreatic resections.Thirty-three patients underwent primary pancreatic resection for either organic hyperinsulinism (n = 9, 27 %) or non-functioning pNENs >1 cm in size (n = 24, 73 %) between 1987 and 2015. 21 (64 %) patients underwent an open surgical (group 1) and 12 patients (36 %) a minimally invasive approach, either laparoscopic (n = 8) or robotic

2016 World Journal of Surgery

56. Type 1 Multiple Endocrine Neoplasia Cohort Study

Type 1 Multiple Endocrine Neoplasia Cohort Study Type 1 Multiple Endocrine Neoplasia Cohort Study - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Type 1 Multiple Endocrine Neoplasia Cohort Study (MEN1 (...) Information provided by (Responsible Party): Centre Hospitalier Universitaire Dijon Study Details Study Description Go to Brief Summary: Type 1 - Multiple Endocrine Neoplasia syndrome (MEN1,) is an autosomal dominant disorder secondary to MEN1 mutations that predisposes carriers to endocrine tumors. The MEN1 gene located on chromosome 11q13 encodes menin, a 610 amino acid protein expressed in all tissues tested. Menin is a scaffold protein which interacts with a large number of intracellular molecules

2016 Clinical Trials

57. Imaging in multiple endocrine neoplasia type 1: recent studies show enhanced sensitivities but increased controversies (PubMed)

Imaging in multiple endocrine neoplasia type 1: recent studies show enhanced sensitivities but increased controversies In multiple endocrine neoplasia type 1 (MEN1) patients, a number of recent studies compare the ability of different, new imaging modalities to existing modalities to localize the important neuroendocrine tumors (NETs) that contribute to their decreased life expectancy (pancreatic NETs [pNETs] and thymic carcinoids). These included the use of 68Ga-DOTATOC-PET/CT, endoscopic

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2016 International journal of endocrine oncology

58. Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma (PubMed)

Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma Multiple endocrine neoplasia (MEN) mutation is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The incidence of insulinoma in MEN is relatively uncommon, and there have been a few cases of MEN manifested with insulinoma as the first symptom in children. We experienced a 9-year-old girl having a familial MEN1 mutation. She complained

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2016 Journal of Korean medical science

59. Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 1 Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Multiple (...) Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 1 Aka: Multiple Endocrine Neoplasia Type 1 , Multiple Endocrine Neoplasia Type I , Werner's Syndrome , MEN I From Related Chapters II. Associated Conditions Familial (occurs in >80% of MEN I cases) Pancreatic islet tumors Zollinger-Ellison Syndrome Hypergastrinemia III. Prevention: Family Members of MEN I patients Consider annual lab screening starting at age 8 years annually Consider PTH Level annually or if is abnormal IV. References Images

2018 FP Notebook

60. Reoperative Surgery in Patients with Multiple Endocrine Neoplasia Type 1 Associated Primary Hyperparathyroidism. (PubMed)

Reoperative Surgery in Patients with Multiple Endocrine Neoplasia Type 1 Associated Primary Hyperparathyroidism. Persistent/recurrent primary hyperparathyroidism (pHPT) occurs frequently in multiple endocrine neoplasia type 1 (MEN1). We assessed the usefulness of intraoperative PTH (IOPTH) and preoperative localizing studies based on the outcome of patients with MEN1-associated pHPT undergoing reoperative surgery.A retrospective analysis identified MEN1 patients with persistent/recurrent pHPT

2016 Annals of Surgical Oncology

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