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Multiple Endocrine Neoplasia Type 1

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161. Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: Implications for screening. (PubMed)

Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: Implications for screening. Childhood pheochromocytoma in the setting of multiple endocrine neoplasia type 2 (MEN2) remains rare and has not been reported under the age of 12. We present an 8-year-old female with known MEN 2A, C634Y RET mutation, diagnosed with a 6 cm pheochromocytoma requiring laparoscopic adrenalectomy. Given this patient's age at diagnosis, screening guidelines should recommend annual

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2013 Journal of Surgical Oncology

162. The Characterization of Pheochromocytoma and Its Impact on Overall Survival in Multiple Endocrine Neoplasia Type 2. (PubMed)

The Characterization of Pheochromocytoma and Its Impact on Overall Survival in Multiple Endocrine Neoplasia Type 2. Pheochromocytoma (PHEO) occurs in 50% of patients with multiple endocrine neoplasia type 2 (MEN2). It is unknown if the presence of PHEO is associated with more aggressive medullary thyroid cancer (MTC).To present our experience with MEN2 PHEO and evaluate whether PHEO impacts MTC overall survival in patients with RET codon 634 mutations.We performed a retrospective chart review (...) of MEN2 patients at MD Anderson Cancer Center from 1960 through 2012.The study group comprised 85 patients (group 1) with MEN2-associated PHEO. Of these, 59 patients (subgroup 1) with RET codon 634 mutations were compared to 48 patients (group 2) with RET codon 634 mutations, but without MEN2-associated PHEO.Of 85 patients with MEN2 and PHEO, 70 had MEN2A and 15 had MEN2B. Median age at PHEO diagnosis was 32 years. The initial manifestation of MEN2 was MTC in 60% of patients, synchronous MTC and PHEO

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2013 Journal of Clinical Endocrinology and Metabolism

163. Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update. (PubMed)

Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update. Over the last decade, our knowledge of the multiple endocrine neoplasia (MEN) type 2 syndromes MEN2A and MEN2B and familial medullary thyroid carcinoma (FMTC) has expanded greatly. In this manuscript, we summarize how recent discoveries have enhanced our understanding of the molecular basis of these diseases and led to improvements in the diagnosis and management of affected patients.We reviewed the English (...) literature through PubMed from 2000 to the present, using the search terms medullary thyroid carcinoma, multiple endocrine neoplasia type 2, familial medullary thyroid carcinoma, RET proto-oncogene, and calcitonin.Over 70 RET mutations are known to cause MEN2A, MEN2B, or FMTC, and recent findings from studies of large kindreds with these syndromes have clouded the relationship between genotype and phenotype, primarily because of the varied clinical presentation of different families with the same RET

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2013 Journal of Clinical Endocrinology and Metabolism

164. Multiple endocrine neoplasia type 2A due to an exon 8 (G533C) mutation in a large North American kindred. (PubMed)

Multiple endocrine neoplasia type 2A due to an exon 8 (G533C) mutation in a large North American kindred. Medullary thyroid cancer, although most commonly sporadic, may be part of the multiple endocrine neoplasia type 2 (MEN2) syndromes, generally due to mutations in the RET proto-oncogene. The majority of these mutations are located in exons 10, 11, and 13-16. More rarely, mutations in other exons have been described. We report for the first time a family from the United States with a rare (...) missense mutation, despite initial negative screening for common mutations. We describe a family with a total of 47 individuals from five generations with multiple members affected with this mutation.Our data suggest that in patients with this mutation, pheochromocytoma is more common than previously reported, and that in some cases this mutation may be associated with a more aggressive phenotype than initially described.MEN2A due to the G533C mutation in exon 8 may be more common and more aggressive

2013 Thyroid

165. Vandetanib in Children and Adolescents with Multiple Endocrine Neoplasia Type 2B Associated Medullary Thyroid Carcinoma. (PubMed)

Vandetanib in Children and Adolescents with Multiple Endocrine Neoplasia Type 2B Associated Medullary Thyroid Carcinoma. Medullary thyroid carcinoma (MTC) is a manifestation of multiple endocrine neoplasia type 2 (MEN2) syndromes caused by germline, activating mutations in the RET (REarranged during Transfection) proto-oncogene. Vandetanib, a VEGF and EGF receptor inhibitor, blocks RET tyrosine kinase activity and is active in adults with hereditary MTC.We conducted a phase I/II trial

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2013 Clinical Cancer Research Controlled trial quality: uncertain

166. Hidden diagnosis of multiple endocrine neoplasia-1 unraveled during workup of virilization caused by adrenocortical carcinoma (PubMed)

Hidden diagnosis of multiple endocrine neoplasia-1 unraveled during workup of virilization caused by adrenocortical carcinoma Multiple endocrine neoplasia-1 (MEN1) is an autosomal dominant syndrome with classic triad of parathyroid hyperplasia, pancreatic neuroendocrine tumors, and pituitary adenomas. Other recognized manifestations include carcinoid, cutaneous or adrenocortical tumors. It is commonly presented with clinical features related to parathyroid, pancreas or pituitary lesions. Here

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2013 Indian journal of endocrinology and metabolism

167. Bilateral submandibular gland oncocytoma in a patient with multiple endocrine neoplasia 2B syndrome and neurofibromatosis type 1: an unusual case. (PubMed)

Bilateral submandibular gland oncocytoma in a patient with multiple endocrine neoplasia 2B syndrome and neurofibromatosis type 1: an unusual case. Oncocytomas are unusual neoplasms of the head and neck that occur mainly in the parotid gland. The authors report a case of bilateral submandibular gland oncocytoma in a patient with multiple endocrine neoplasia 2B syndrome and neurofibromatosis type 1. Histopathology of the resection specimens demonstrated lymphovascular invasion but no other

2011 International Journal of Oral and Maxillofacial Surgery

168. Multiple Endocrine Neoplasia (Follow-up)

Multiple Endocrine Neoplasia (Follow-up) Pediatric Multiple Endocrine Neoplasia Treatment & Management: Approach Considerations, Surgery for Type 1 MEN, Surgery or Type 2 MEN Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTIzMjY5LXRyZWF0bWVudA== processing > Pediatric Multiple Endocrine Neoplasia Treatment & Management Updated: Oct 11, 2017 Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Pediatric Multiple Endocrine Neoplasia Treatment Approach Considerations Treatments for the various conditions associated with multiple endocrine neoplasia (MEN) include the following: Hypercalcemia - For patients with type 1 MEN who have hypercalcemia, surgery

2014 eMedicine Pediatrics

169. Multiple Endocrine Neoplasia (Diagnosis)

Multiple Endocrine Neoplasia Updated: Oct 11, 2017 Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Pediatric Multiple Endocrine Neoplasia Overview Background First reported in 1963 by Wermer, multiple endocrine neoplasia (MEN) syndromes, found in pediatric and adult patients, consist of rare, autosomal dominant mutations in genes that regulate cell growth. [ ] Current classification recognizes type 1 and , with the latter being (...) mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet . 1997 Jul. 6(7):1169-75. . Trouillas J, Labat-Moleur F, Sturm N, Kujas M, Heymann MF, Figarella-Branger D, et al. Pituitary tumors and hyperplasia in multiple endocrine neoplasia type 1 syndrome (MEN1): a case-control study in a series of 77 patients versus 2509 non-MEN1 patients. Am J Surg Pathol . 2008 Apr. 32(4):534-43. . Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: management

2014 eMedicine Pediatrics

170. Multiple Endocrine Neoplasia (Treatment)

Multiple Endocrine Neoplasia (Treatment) Pediatric Multiple Endocrine Neoplasia Treatment & Management: Approach Considerations, Surgery for Type 1 MEN, Surgery or Type 2 MEN Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTIzMjY5LXRyZWF0bWVudA== processing > Pediatric Multiple Endocrine Neoplasia Treatment & Management Updated: Oct 11, 2017 Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Pediatric Multiple Endocrine Neoplasia Treatment Approach Considerations Treatments for the various conditions associated with multiple endocrine neoplasia (MEN) include the following: Hypercalcemia - For patients with type 1 MEN who have hypercalcemia, surgery

2014 eMedicine Pediatrics

171. Multiple Endocrine Neoplasia (Overview)

Multiple Endocrine Neoplasia Updated: Oct 11, 2017 Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Pediatric Multiple Endocrine Neoplasia Overview Background First reported in 1963 by Wermer, multiple endocrine neoplasia (MEN) syndromes, found in pediatric and adult patients, consist of rare, autosomal dominant mutations in genes that regulate cell growth. [ ] Current classification recognizes type 1 and , with the latter being (...) mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet . 1997 Jul. 6(7):1169-75. . Trouillas J, Labat-Moleur F, Sturm N, Kujas M, Heymann MF, Figarella-Branger D, et al. Pituitary tumors and hyperplasia in multiple endocrine neoplasia type 1 syndrome (MEN1): a case-control study in a series of 77 patients versus 2509 non-MEN1 patients. Am J Surg Pathol . 2008 Apr. 32(4):534-43. . Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: management

2014 eMedicine Pediatrics

172. Diagnosis & Assessment of Hypertension - Endocrine Hypertension

; Patients with a predisposition to hereditary causes (e.g., multiple endocrine neoplasia 2A or 2B, von Recklinghausen neurofibromatosis type 1, Von Hippel-Lindau disease); For patients with positive biochemical screening tests, localization of pheochromocytomas or paragangliomas should employ magnetic resonance imaging (preferable), computed tomography (if magnetic resonance imaging is unavailable), and/or iodine I-131 metaiodobenzylguanidine (MIBG) scintigraphy (Grade C for each modality). Background (...) in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. N Engl J Med 1999;340:1872-9. Sawka AM, Prebtani AP, Thabane L, Gafni A, Levine M, Young WF Jr. A systematic review of the literature examining the diagnostic efficacy of measurement of fractionated plasma free metanephrines in the biochemical diagnosis of pheochromocytoma. BMC Endocr Disord 2004;4:2. Lenders et al Guidelines on Pheochromocytoma and Paraganglioma. J Clin Endocrinol Metab 2014;99:1915–1942. Sjoberg RJ, Simcic KJ

2018 Hypertension Canada

173. A Phase 1, Randomized, Placebo-controlled, Multiple Dose Escalation Study to Investigate Safety, Pharmacokinetics, and Pharmacodynamics of SHR0534 in Chinese Type 2 Diabetic Patients

A Phase 1, Randomized, Placebo-controlled, Multiple Dose Escalation Study to Investigate Safety, Pharmacokinetics, and Pharmacodynamics of SHR0534 in Chinese Type 2 Diabetic Patients A Phase 1, Randomized, Placebo-controlled, Multiple Dose Escalation Study to Investigate Safety, Pharmacokinetics, and Pharmacodynamics of SHR0534 in Chinese Type 2 Diabetic Patients - 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. A Phase 1, Randomized, Placebo-controlled, Multiple Dose Escalation Study to Investigate Safety, Pharmacokinetics, and Pharmacodynamics of SHR0534 in Chinese Type 2 Diabetic Patients The safety and scientific validity of this study is the responsibility of the study sponsor and investigators

2016 Clinical Trials

174. Multiple endocrine neoplasias type 2B and RET proto-oncogene (PubMed)

Multiple endocrine neoplasias type 2B and RET proto-oncogene Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations (...) aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.

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2012 Italian journal of pediatrics

175. Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report (PubMed)

Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report We present a 15-year-old female patient with medullary thyroid carcinoma, marfanoid habitus, and mucosal ganglioneuromatosis. Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15. Our patient is thought to be atypical MEN2B due to the absence of M918T or A883F mutations. Chilaiditi sign is an incidental radiographic finding of a usually asymptomatic

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2012 Case reports in endocrinology

176. Ocular Signs of Multiple Endocrine Neoplasia Type 2B (MEN2B). (PubMed)

Endocrinol Metab 0375362 0021-972X AIM IM Adolescent Dry Eye Syndromes etiology Eye pathology Female Humans Multiple Endocrine Neoplasia Type 2a complications diagnosis 2012 1 13 6 0 2012 1 13 6 0 2012 7 7 6 0 ppublish 22238409 jc.2011-3023 10.1210/jc.2011-3023 (...) Ocular Signs of Multiple Endocrine Neoplasia Type 2B (MEN2B). 22238409 2012 07 06 2012 03 06 1945-7197 97 3 2012 Mar The Journal of clinical endocrinology and metabolism J. Clin. Endocrinol. Metab. Ocular signs of multiple endocrine neoplasia type 2B (MEN2B). 725-6 10.1210/jc.2011-3023 Lee Richard R Worthing Hospital, Worthing, West Sussex, United Kingdom. rmhleeuk@gmail.com Hyer Jonathan J Chowdhury Haziq H Teimory Masoud M eng Case Reports Journal Article 2012 01 11 United States J Clin

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2012 Journal of Clinical Endocrinology and Metabolism

177. Genotype-phenotype correlation in multiple endocrine neoplasia type 2 (PubMed)

Genotype-phenotype correlation in multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10. It has a strong penetrance of medullary thyroid carcinomas and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism. Multiple endocrine neoplasia type (...) 2 is divided into three varieties depending on its clinical features: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma. The specific rearranged during transfection mutation may suggest a predilection toward a particular phenotype and clinical course of medullary thyroid carcinoma, with strong genotype-phenotype correlations. Offering rearranged during transfection testing is the best practice for the clinical management

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2012 Clinics

178. Multiple endocrine neoplasia type 2: achievements and current challenges (PubMed)

Multiple endocrine neoplasia type 2: achievements and current challenges Incremental advances in medical technology, such as the development of sensitive hormonal assays for routine clinical care, are the drivers of medical progress. This principle is exemplified by the creation of the concept of multiple endocrine neoplasia type 2, encompassing medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism, which did not emerge before the early 1960s. This review sets out (...) to highlight key achievements, such as joint biochemical and DNA-based screening of individuals at risk of developing multiple endocrine neoplasia type 2, before casting a spotlight on current challenges which include: (i) ill-defined upper limits of calcitonin assays for infants and young children, rendering it difficult to implement the biochemical part of the integrated DNA-based/biochemical concept; (ii) our increasingly mobile society in which different service providers are caring for one individual

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2012 Clinics

179. Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2 (PubMed)

Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2 We briefly review the surgical approaches to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2 (medullary thyroid carcinoma/multiple endocrine neoplasia type 2). The recommended surgical approaches are usually based on the age of the affected carrier/patient, tumor staging and the specific rearranged during transfection codon mutation. We have focused mainly

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2012 Clinics

180. Multiple Endocrine Neoplasia Type 2

Multiple Endocrine Neoplasia Type 2 Multiple Endocrine Neoplasia Type 2 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 2 Multiple Endocrine Neoplasia Type 2 Aka: Multiple Endocrine Neoplasia Type 2 , Multiple Endocrine Neoplasia Type II , Sipple's Syndrome , MEN II From Related Chapters II. Associated Conditions Multiple Endocrine Neoplasia Type 2 or Adrenal adenoma carcinoma Multiple Endocrine Neoplasia Type 2-A ry tumor III. Prevention: Screening in family members Identify specific gene mutation in known positive family member with MEN II Screen family members for the specific gene mutation IV

2015 FP Notebook

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