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Multiple Endocrine Neoplasia Type 1

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181. Importance of surveillance for multiple endocrine neoplasia-1 and surgery in patients with sporadic Zollinger-Ellison syndrome. (PubMed)

review of patients with ZES associated with multiple endocrine neoplasia type 1 (MEN-1) (n = 16) and those with sporadic ZES (n = 33) seen at a tertiary care center from August 1994 to January 2012. Cox proportional hazards modeling was used to compare survival times among groups, based on treatment with surgery (n = 34) and the presence of MEN-1 (n = 9 with surgery; n = 7 without surgery). Differences were compared using the unpaired Student t test and the Fisher exact test.Patients with MEN-1 (...) Importance of surveillance for multiple endocrine neoplasia-1 and surgery in patients with sporadic Zollinger-Ellison syndrome. Zollinger-Ellison syndrome (ZES) is a rare disorder characterized by gastrin-secreting tumors of the gastrointestinal tract and gastric acid hypersecretion. There is controversy over the best way to manage these patients; we investigated outcomes of patients with different forms of the disease, who did and did not undergo surgery.We performed a retrospective chart

2012 Clinical Gastroenterology and Hepatology

182. Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2

syndrome, FAMMM and Neurofibromatosis 1/2 KCE Report 243Cs 4.4. Neurofibromatosis type 2 Neurofibromatosis type 2 is a multiple neoplasia syndrome that results from a mutation in the NF2 tumour suppressor gene. The genotype occurs in one in 25 000 live births and is inherited as an autosomal dominant trait. It has wide phenotypic variability. The penetrance is nearly 100% by 60 years of age. Improvements in diagnosis and treatment have led to a rise in the diagnostic prevalence to one in 100 000 people (...) are largely based on the opinion of experts in the field. 3. METHODS 3.1. Clinical research questions The current guideline addresses the following clinical questions: Among patients with suspicion of Birt-Hogg-Dubé syndrome or Familial atypical multiple mole melanoma syndrome or Neurofibromatosis 1 and Neurofibromatosis 2, either based on symptoms or family history: ? Who should undergo genetic testing? ? What type of follow-up should patients undergo, depending on test results and diagnosis? 3.2

2015 Belgian Health Care Knowledge Centre

183. Sonographic Findings of Medullary Thyroid Carcinoma Leading to Diagnosis of Multiple Endocrine Neoplasia Type 2a during Pregnancy (PubMed)

Sonographic Findings of Medullary Thyroid Carcinoma Leading to Diagnosis of Multiple Endocrine Neoplasia Type 2a during Pregnancy Multiple endocrine neoplasia (MEN) type 2a (Sipple's syndrome) is characterized by medullary thyroid carcinoma and pheochromocytoma, and in a smaller percentage of cases, multiglandular parathyroid hyperplasia. This autosomal-dominant syndrome is due to a mutation in the rearranged during transfection (RET) proto-oncogene located on chromosome 10cen-10q11.2 (...) and rarely complicates pregnancy. We present an unusual case in a patient with an enlarged thyroid with sonographic findings characteristic of thyroid cancer, which led to diagnosis and subsequent management of RET proto-oncogene-positive MEN type 2a complicating pregnancy.

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2011 AJP Reports

184. Clinical utility gene card for: multiple endocrine neoplasia type 2 (PubMed)

Clinical utility gene card for: multiple endocrine neoplasia type 2 21863057 2012 04 02 2018 11 13 1476-5438 20 1 2012 Jan European journal of human genetics : EJHG Eur. J. Hum. Genet. Clinical utility gene card for: multiple endocrine neoplasia type 2. 10.1038/ejhg.2011.142 Raue Friedhelm F Endocrine Practice and Molecular Laboratory, Heidelberg, Germany. Rondot Susanne S Schulze Egbert E Szpak-Ulczok Sylwia S Jarzab Barbara B Frank-Raue Karin K eng OMIM 155240 162300 171400 Journal Article (...) Research Support, Non-U.S. Gov't 2011 08 24 England Eur J Hum Genet 9302235 1018-4813 Familial medullary thyroid carcinoma IM Carcinoma, Medullary congenital Diagnosis, Differential Genetic Testing methods Genotype Humans Multiple Endocrine Neoplasia Type 2a diagnosis genetics Multiple Endocrine Neoplasia Type 2b diagnosis genetics Neoplastic Syndromes, Hereditary diagnosis genetics Point Mutation Prenatal Diagnosis methods Sensitivity and Specificity Thyroid Neoplasms diagnosis genetics 2011 8 25 6 0

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2011 European Journal of Human Genetics

185. Primary Hyperparathyroidism as the First Clinical Manifestation of Multiple Endocrine Neoplasia Type 2A in a 5-Year-Old Child. (PubMed)

Primary Hyperparathyroidism as the First Clinical Manifestation of Multiple Endocrine Neoplasia Type 2A in a 5-Year-Old Child. Primary hyperparathyroidism occurs in only 10%-30% of patients with multiple endocrine neoplasia type 2A (MEN2A), rarely as the sole clinical manifestation, and is usually diagnosed after the third decade of life.A 5-year-old girl was referred for prophylactic thyroidectomy as she carried the p.C634R RET mutation. She was clinically asymptomatic, with a normally

2011 Thyroid

186. Unilateral subtotal adrenalectomy for pheochromocytoma in multiple endocrine neoplasia type 2 patients: a feasible surgical strategy. (PubMed)

Unilateral subtotal adrenalectomy for pheochromocytoma in multiple endocrine neoplasia type 2 patients: a feasible surgical strategy. To determine the best surgical strategy for pheochromocytoma in multiple endocrine neoplasia type 2 (MEN2) patients.Pheochromocytomas occur in 50% to 60% of MEN2 patients, approximately half of them eventually develop bilateral disease. Unilateral subtotal adrenalectomy as primary surgery for pheochromocytoma in these patients may avoid or postpone the need

2011 Annals of Surgery

187. The RET p.G533C Mutation Confers Predisposition to Multiple Endocrine Neoplasia Type 2A in a Brazilian Kindred and Is Able to Induce a Malignant Phenotype In Vitro and In Vivo. (PubMed)

The RET p.G533C Mutation Confers Predisposition to Multiple Endocrine Neoplasia Type 2A in a Brazilian Kindred and Is Able to Induce a Malignant Phenotype In Vitro and In Vivo. We have previously described a p.G533C substitution in the rearranged during transfection (RET) oncogene in a large family with medullary thyroid carcinoma. Here, we explore the functional transforming potential of RET p.G533C mutation.Plasmids expressing RET mutants (p.G533C and p.C634Y) and RET wild type were stable (...) transfected into a rat thyroid cell line (PCCL3). Biological and biochemical effects of RET p.G533C were investigated both in vitro and in vivo. Moreover, we report the first case of pheochromocytoma among the RET p.G533C-carriers in this Brazilian family and explore the RET mutational status in DNA isolated from pheochromocytoma.Ectopic expression of RET p.G533C and p.C634Y activates RET/MAPK/ERK pathway at similar levels and significantly increased cell proliferation, compared with RET wild type. We

2011 Thyroid

188. Surgical Curability of Medullary Thyroid Cancer in Multiple Endocrine Neoplasia 2B: A Changing Perspective. (PubMed)

Surgical Curability of Medullary Thyroid Cancer in Multiple Endocrine Neoplasia 2B: A Changing Perspective. This investigation aimed at exploring the suitability of nonendocrine manifestations preceding medullary thyroid cancer (MTC) for early diagnosis of multiple endocrine neoplasia type 2B (MEN 2B).MEN 2B patients, running a high risk of metastatic MTC, must be diagnosed early for biochemical cure.Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patients) M918T RET (...) mutations were examined for signs and symptoms prompting MEN 2B.All 3 patients with inherited mutations were diagnosed before the age of 1 year and cured of their C-cell disease. Among 41 patients with de novo mutations, MEN 2B was diagnosed in 12 patients after recognition of nonendocrine manifestations [intestinal ganglioneuromatosis (6 patients), oral symptoms (5 patients), ocular ("tearless crying") (4 patients), and skeletal stigmata (1 patient) alone or concomitantly]. In the remaining 29 patients

2013 Annals of Surgery

189. High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients. (PubMed)

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients. The precise penetrance of pheochromocytoma (PHEO) in multiple endocrine neoplasia type 2 (MEN2) has not been reported in a large cohort. In this study, we aimed to clarify the codon-specific penetrance of PHEO in MEN2.We established a study group designated the 'MEN Consortium of Japan' in 2008 and asked physicians and surgeons to provide clinical and genetic

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2013 European Journal of Endocrinology

190. Peak Incidence of Pheochromocytoma and Primary Hyperparathyroidism in Multiple Endocrine Neoplasia 2: Need for Age-Adjusted Biochemical Screening. (PubMed)

Peak Incidence of Pheochromocytoma and Primary Hyperparathyroidism in Multiple Endocrine Neoplasia 2: Need for Age-Adjusted Biochemical Screening. In multiple endocrine neoplasia type 2, American Thyroid Association (ATA) management guidelines recommend continuous biochemical screening for pheochromocytoma and/or primary hyperparathyroidism. This implicit assumption of linear tumor development is difficult to reconcile with current thinking that cells accrue somatic mutations stochastically (...) , yielding a bell-shaped distribution.This investigation aimed at evaluating the age distribution of pheochromocytoma and primary hyperparathyroidism in gene carriers at risk of developing multiple endocrine neoplasia type 2.ATA class D, C, B, and A mutations, with or without pheochromocytoma and/or primary hyperparathyroidism, were plotted against carrier age at the time of diagnosis or last follow-up.The setting was a surgical referral center.Included were 474 carriers of ATA class D (37 patients), C

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2013 Journal of Clinical Endocrinology and Metabolism

191. The early diagnosis of medullary carcinoma of the thyroid gland in patients with multiple endocrine neoplasia type II. (PubMed)

The early diagnosis of medullary carcinoma of the thyroid gland in patients with multiple endocrine neoplasia type II. Pentagastrin is a potent stimulator of thyrocalcitonin secretion from "C" cells. Since medulllary carcinoma of the thyroid gland (MCT) is a tumor composed of "C" cells, pentagastrin was used to screen a large kindred with multiple endocrine neoplasia type II (MCT, pheochromocytoma (s), and parathyroid hyperplasia). Four children with no thyroid abnormalities evident on physical (...) elevations in thyrocalcitonin secretion. This test has great diagnostic utility, especially in screening patients with multiple endocrine neoplasia type II.

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1975 Annals of Surgery

192. Multiple Endocrine Neoplasia, Type 1 (MEN 1)

Multiple Endocrine Neoplasia, Type 1 (MEN 1) Multiple Endocrine Neoplasia, Type 1 (MEN 1) - Endocrine and Metabolic Disorders - MSD Manual Professional Edition Brought to you by The trusted provider of medical information since 1899 SEARCH SEARCH MEDICAL TOPICS Common Health Topics Resources QUIZZES & CASES Quizzes Cases The trusted provider of medical information since 1899 SEARCH SEARCH MEDICAL TOPICS Common Health Topics Resources QUIZZES & CASES Quizzes Cases / / / / IN THIS TOPIC OTHER (...) to a study published... 3D Model Female Endocrine System Video Overview of Physiologic pH and Buffers SOCIAL MEDIA Add to Any Platform Loading , MD, Northwestern University Feinberg School of Medicine Click here for Patient Education NOTE: This is the Professional Version. CONSUMERS: (See also .) Multiple endocrine neoplasia, type 1 (MEN 1) is a hereditary syndrome characterized by hyperplasia or sometimes adenomas of the parathyroid glands and tumors of the pancreatic islet cells and/or pituitary gland

2013 Merck Manual (19th Edition)

193. Multiple endocrine neoplasia: the Chilean experience (PubMed)

Multiple endocrine neoplasia: the Chilean experience Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the potential carriers of the menin gene mutation, but the genotype-phenotype correlation (...) in multiple endocrine neoplasia type 1 is less straightforward than multiple endocrine neoplasia type 2. Most likely, the main advantage of genetic testing in MEN1 is to exclude from further studies those who are negative for the genetic mutation if they belong to a family with a known history of MEN1. In Chile, we started with rearranged during transfection proto-oncogene genetic testing (MEN2) 15 years ago. We carried out a prophylactic total thyroidectomy to prevent medullary thyroid carcinoma

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2012 Clinics

194. Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 (PubMed)

Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 Multiple endocrine neoplasia type 2 is an inherited cancer syndrome characterized by tumors of thyroid and adrenal tissues. Germline mutations of the REarranged during Transfection (RET) proto-oncogene, leading to its unregulated activation, are the underlying cause of this disease. Multiple endocrine neoplasia type 2 has been a model in clinical cancer genetics, demonstrating how knowledge (...) of the genetic basis can shape the diagnosis and treatment of the disease. Here, we discuss the nature and effects of the most common recurrent mutations of RET found in multiple endocrine neoplasia type 2. Current understanding of the molecular mechanisms of RET mutations and how they alter the structure and function of the RET protein leading to its aberrant activation, and the effects on RET localization and signaling are described.

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2012 Clinics

195. Multiple endocrine neoplasias: an overview of recent progress (PubMed)

Multiple endocrine neoplasias: an overview of recent progress 22584697 2013 01 16 2018 11 13 1980-5322 67 Suppl 1 2012 Clinics (Sao Paulo, Brazil) Clinics (Sao Paulo) Multiple endocrine neoplasias: an overview of recent progress. 1 S1807-59322012001300001 Rocha-e-Silva Mauricio M Toledo Sergio P A SP eng Editorial Introductory Journal Article Brazil Clinics (Sao Paulo) 101244734 1807-5932 IM Humans Multiple Endocrine Neoplasia diagnosis genetics therapy 2012 5 16 6 0 2012 5 25 6 0 2013 1 17 6 0 (...) ppublish 22584697 S1807-59322012001300001 PMC3328815 Clinics (Sao Paulo). 2011;66 Suppl 1:3-17 21779718 Clinics (Sao Paulo). 2011;66 Suppl 1:19-24 21779719 Clinics (Sao Paulo). 2011;66 Suppl 1:25-32 21779720 Clinics (Sao Paulo). 2011;66 Suppl 1:71-7 21779725 Clinics (Sao Paulo). 2011;66 Suppl 1:45-54 21779722 Clinics (Sao Paulo). 2011;66 Suppl 1:55-63 21779723 Clinics (Sao Paulo). 2011;66 Suppl 1:65-9 21779724 Clinics (Sao Paulo). 2011;66 Suppl 1:33-43 21779721

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2012 Clinics

196. Molecular Epidemiology of Multiple Endocrine Neoplasia 2: Implications for RET Screening in the New Millenium. (PubMed)

Molecular Epidemiology of Multiple Endocrine Neoplasia 2: Implications for RET Screening in the New Millenium. Twenty years ago, the groundbreaking discovery that rearranged during transfection (RET) mutations underlie multiple endocrine neoplasia 2 (MEN2) and familial medullary thyroid cancer (FMTC) ushered in the era of personalized medicine. MEN2-associated signs, taking time to manifest, can be subtle. This study sought to clarify to what extent conventional estimates of 1:200 000-500 000 (...) in Germany is ∼1:80 000 inhabitants.The molecular minimum incidence estimate of ≈1:100 000 was two- to fivefold greater than conventional estimates of 1:200 000-500 000.

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2012 European Journal of Endocrinology

197. JADA Continuing Education: Multiple endocrine neoplasia in an orthodontic patient: Interprofessional diagnostic and treatment implications. (PubMed)

JADA Continuing Education: Multiple endocrine neoplasia in an orthodontic patient: Interprofessional diagnostic and treatment implications. Multiple endocrine neoplasia, type 2B (MEN 2B), is an autosomal-dominant condition characterized by the development of multiple endocrine tumors. All affected people develop an aggressive form of medullary thyroid cancer (MTC). Without early prophylactic thyroidectomy, the prognosis for patients with MEN 2B is poor; the average age at death is 21 years.The

2012 Journal of the American Dental Association

198. A Phase 1b Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Doses of JNJ-64565111 in Participants With Type 2 Diabetes Mellitus

of range, up to 2 repeated triplicate assessments are permitted Exclusion Criteria: History or current diagnosis of acute or chronic pancreatitis Familial or personal history of multiple endocrine neoplasia type 2,familial/non-familial medullary thyroid carcinoma Donated blood or blood products or lost a significant amount of blood (>500 milliliter [mL]) within 3 months before the first administration of study drug History of hepatitis B surface antigen (HBsAg) or hepatitis C antibody (anti-HCV (...) , Placebo-Controlled, Multiple Dose Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of JNJ-64565111 in Men and Women With Type 2 Diabetes Mellitus Actual Study Start Date : August 1, 2017 Actual Primary Completion Date : February 19, 2018 Actual Study Completion Date : February 19, 2018 Resource links provided by the National Library of Medicine related topics: Arms and Interventions Go to Arm Intervention/treatment Experimental: Cohort 1 to 4: JNJ-64565111

2017 Clinical Trials

199. Laboratory Endocrine Testing Guidelines: Pheochromocytoma

is a rare cause of hypertension, accounting for less than 1% of all hypertensive patients. 1,2 Approximately 10% of pheochromocytomas are malignant. In 10% of adults and 35% of children, pheochromocytomas are extra-adrenal in location. Ten percent of pheochromocytomas occur in patients with multiple endocrine neoplasia type II (medullary carcinoma of the thyroid, primary hyperparathyroidism, pheochromocytoma), in which the incidence of pheochromocytoma is 40%. Laboratory Endocrine Testing (...) %. 2,3 A diagnosis of pheochromocytoma should be considered for any patient with typical symptoms, hypertension refractory to multiple drug regimens, accelerated hypertension, known familial syndromes, and paradoxic hypertensive responses to anti-hypertensives i.e., beta blockers, hypertensive episodes during surgical procedures and incidental findings of an adrenal tumor. REFERENCES 1. Bravo EL. Evolving concepts in pathophysiology, diagnosis and treatment of pheochromocytoma. Endocr Rev. 1994;15

2014 Toward Optimized Practice

200. G-Pen Compared to Glucagen Hypokit for Severe Hypoglycemia Rescue in Adults With Type 1 Diabetes

(other than with suspect or documented hypoglycemia). Current bleeding disorder, treatment with warfarin, or platelet count below 50 × 109 per liter. History of pheochromocytoma or disorder with increased risk of pheochromocytoma (multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis, or Von Hippel-Lindau disease). History of insulinoma. History of allergies to glucagon or glucagon-like products, or any history of significant hypersensitivity to glucagon or any related products or to any (...) : Layout table for MeSH terms Diabetes Mellitus Diabetes Mellitus, Type 1 Hypoglycemia Glucose Metabolism Disorders Metabolic Diseases Endocrine System Diseases Autoimmune Diseases Immune System Diseases Glucagon Glucagon-Like Peptide 1 Gastrointestinal Agents Hormones Hormones, Hormone Substitutes, and Hormone Antagonists Physiological Effects of Drugs Incretins

2018 Clinical Trials

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