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Multiple Endocrine Neoplasia Type 1

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81. A Nationwide study of multiple endocrine neoplasia type 2A in Norway. Predictive avd prognostic factors for the clinical course of medullary thyroid carcinoma. (PubMed)

A Nationwide study of multiple endocrine neoplasia type 2A in Norway. Predictive avd prognostic factors for the clinical course of medullary thyroid carcinoma. Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome caused by activating germline mutations in the RET (REarranged during Transfection) proto-oncogene. MEN 2A has a strong (>95%) and age-dependent (5-25 years) clinical penetrance of medullary thyroid carcinoma (MTC). Several major studies have analyzed (...) in Norway since 1974. Data were collected by reviewing patient files. The variables analyzed were genotype, phenotype, preoperative basal calcitonin, age at thyroid surgery, central lymph node dissection and nodal status at primary surgery, number of surgical procedures, and biochemical cure. Of the 65 patients, 60 had undergone thyroid surgery. The median follow-up period was 9.9 years. The patients were divided into pre-RET-and RET-era, which included patients who had thyroid surgery before January 1

2016 Thyroid

82. Perioperative Severe Hypotension in a Patient with Multiple Endocrine Neoplasia Type IIb and Bilateral Adrenalectomies: Time to Review the Evidence for Stress Dose Steroids (PubMed)

Perioperative Severe Hypotension in a Patient with Multiple Endocrine Neoplasia Type IIb and Bilateral Adrenalectomies: Time to Review the Evidence for Stress Dose Steroids Multiple endocrine neoplasia type IIb (MEN IIb) is an endocrine disorder which can manifest with tumors such as pheochromocytomas and neuromas. We present the case of a patient with MEN IIb, after bilateral adrenalectomies, on maintenance steroid replacement, who underwent a neuroma resection and developed severe hypotension

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2016 Case reports in anesthesiology

83. Positive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene (PubMed)

Positive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene Multiple endocrine neoplasia (MEN) type 2 is an autosomal dominant cancer syndrome associated with the development of thyroid cancer and tumors or hyperplasia in other endocrine organs. It is caused by mutations in the RET gene and can be phenotypically classified into MEN types 2A and 2B. MEN2B is often sporadic resulting from a spontaneous mutation, M981T. A positive

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2016 World journal of oncology

84. Local recurrence of pheochromocytoma in multiple endocrine neoplasia type 2A: a diagnostic and therapeutic challenge (PubMed)

Local recurrence of pheochromocytoma in multiple endocrine neoplasia type 2A: a diagnostic and therapeutic challenge In a patient with multiple endocrine neoplasia type 2A (MEN2A), an inverted physiological ratio between urinary normetanephrines and metanephrines is an early marker of recurrence in epinephrine-secreting pheochromocytoma, and 131I MIBG treatment appears to be a useful therapeutic option in order to avoid multiple invasive surgical procedures in pheochromocytomatosis.

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2016 Clinical Case Reports

85. Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2

Observational Model: Case-Control Time Perspective: Prospective Official Title: Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Actual Study Start Date : September 5, 2001 Estimated Primary Completion Date : September 1, 2026 Estimated Study Completion Date : September 1, 2027 Resource links provided by the National Library of Medicine related topics: Groups and Cohorts Go to Group/Cohort Intervention/treatment Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Consented individuals (...) Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 - 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. Registry for Multiple Endocrine

2017 Clinical Trials

86. Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET)

Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) - 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. Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our

2017 Clinical Trials

87. Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. (PubMed)

Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from (...) and location for which specific tumor types most commonly present. Although the recommended surveillance strategies for each syndrome contain similar approaches, important differences do exist among them. Therefore, it is important for caregivers of children and adolescents with these syndromes to become familiar with the unique diagnostic criteria for each syndrome, and also to be aware of the specific tumor screening and prophylactic surgery recommendations for each syndrome. Clin Cancer Res; 23(13

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2017 Clinical Cancer Research

88. Novel somatic RET mutation questioning the causality of the RET I852M germline sequence variant in multiple endocrine neoplasia 2A. (PubMed)

1 Department of ORL Head and Neck Surgery, Odense University Hospital , Odense, Denmark . eng Case Reports Letter Research Support, Non-U.S. Gov't 2017 06 28 United States Thyroid 9104317 1050-7256 EC 2.7.10.1 Proto-Oncogene Proteins c-ret EC 2.7.10.1 RET protein, human IM Aged Female Germ-Line Mutation Humans Multiple Endocrine Neoplasia Type 2a genetics Proto-Oncogene Proteins c-ret genetics 2017 6 6 6 0 2018 10 20 6 0 2017 6 6 6 0 ppublish 28578594 10.1089/thy.2017.0131 (...) Novel somatic RET mutation questioning the causality of the RET I852M germline sequence variant in multiple endocrine neoplasia 2A. 28578594 2018 10 18 2018 10 18 1557-9077 27 8 2017 08 Thyroid : official journal of the American Thyroid Association Thyroid Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A. 1103-1104 10.1089/thy.2017.0131 Mathiesen Jes Sloth JS 1 Department of ORL Head and Neck Surgery, Odense

2017 Thyroid

89. Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study. (PubMed)

England Endocr Relat Cancer 9436481 1351-0088 IM Adolescent Adult Cohort Studies Denmark Female Humans Incidence Male Multiple Endocrine Neoplasia Type 2b epidemiology pathology Prevalence Retrospective Studies Young Adult 2017 04 19 2017 04 24 2017 4 26 6 0 2018 10 17 6 0 2017 4 26 6 0 ppublish 28438782 ERC170122 10.1530/ERC-17-0122 (...) Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study. 28438782 2018 10 16 2018 11 28 1479-6821 24 7 2017 07 Endocrine-related cancer Endocr. Relat. Cancer Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study. L39-L42 10.1530/ERC-17-0122 ERC170122 Mathiesen Jes Sloth JS Department of ORL Head & Neck SurgeryOdense University Hospital, Odense, Denmark. Institute of Clinical ResearchUniversity of Southern Denmark, Odense

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2017 Endocrine-Related Cancer

90. Multiple endocrine neoplasia 2B: Differential increase in enteric nerve subgroups in muscle and mucosa (PubMed)

Multiple endocrine neoplasia 2B: Differential increase in enteric nerve subgroups in muscle and mucosa Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome caused by an activating mutation of the RET gene, leading to enteric gangliomatosis. This child presented with constipation at 1-mo old, was diagnosed with MEN2B by rectal biopsy at 4 mo, had thyroidectomy at 9 mo and a colectomy at 4 years. We studied the extent of neuronal and nerve fibre proliferation and which classes of enteric (...) nerves are affected by examining the colon with multiple neuronal antibodies. Resected transverse colon was fixed, frozen, sectioned and processed for fluorescence immunohistochemistry labelling with antibodies against TUJ1, Hu, ChAT, NOS, VIP, SP and CGRP and cKit. Control transverse colon was from the normal margin of Hirschsprung (HSCR) colon (4-year-old) and a child with familial adenomatous polyposis (FAP, 12 year). Myenteric ganglia were increased in size to as wide as the circular muscle

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2017 World journal of gastrointestinal pathophysiology

91. Metastasis of carcinoid to the arch of the axis in a multiple endocrine neoplasia patient: a case report. (PubMed)

Metastasis of carcinoid to the arch of the axis in a multiple endocrine neoplasia patient: a case report. Carcinoid tumors eventually metastasize to the spine, and epidural spinal cord compression is a relatively frequent neurologic complication of carcinoid. However, a case of multiple endocrine neoplasia type 1 (MEN1) presenting with spinal cord compression as a result of a metastatic carcinoid tumor has not been reported previously.To report an extremely rare case of MEN1 presenting (...) metastasis of carcinoid tumor occurred in a multiple endocrine neoplasia patient, and it is significant to note that carcinoid metastasis is one of differential diagnoses for osteoblastic lesions.

2017 The Spine Journal

92. No Association of Blood Type O with Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1. (PubMed)

No Association of Blood Type O with Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1. An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore, blood type O was proposed as an additional factor to personalize screening criteria for neuroendocrine tumors (...) in MEN1 patients.The aim of this study was to assess the association between blood type O and the occurrence of neuroendocrine tumors in the national Dutch MEN1 cohort.This is a cohort study using the Dutch National MEN1 database, which includes more than 90% of the Dutch MEN1 population. Demographic and clinical data were analyzed by blood type. Chi-square tests and Fisher exact tests were used to determine the association between blood type O and occurrence of neuroendocrine tumors. A cumulative

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2015 Journal of Clinical Endocrinology and Metabolism

93. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version

to the summary for more information about variant classification. ] There are several hereditary syndromes that involve endocrine or neuroendocrine glands, such as multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2), multiple endocrine neoplasia type 4 (MEN4), pheochromocytoma (PHEO), paraganglioma (PGL), Li-Fraumeni syndrome, familial adenomatous polyposis, and von Hippel-Lindau syndrome. This summary currently focuses on MEN1, MEN2, MEN4, familial PHEO and PGL syndrome (...) , et al.: Familial papillary carcinoma of the thyroid. Am J Med Genet 25 (4): 775-82, 1986. [ ] Loh KC: Familial nonmedullary thyroid carcinoma: a meta-review of case series. Thyroid 7 (1): 107-13, 1997. [ ] Lupoli G, Vitale G, Caraglia M, et al.: Familial papillary thyroid microcarcinoma: a new clinical entity. Lancet 353 (9153): 637-9, 1999. [ ] Multiple Endocrine Neoplasia Type 1 Clinical Description Multiple endocrine neoplasia type 1 (MEN1) ( ) is an autosomal dominant syndrome

2018 PDQ - NCI's Comprehensive Cancer Database

94. VIPoma with multiple endocrine neoplasia type 1 identified as an atypical gene mutation (PubMed)

VIPoma with multiple endocrine neoplasia type 1 identified as an atypical gene mutation A 47-year-old man presented with persistent diarrhoea and hypokalaemia. CT revealed 4 pancreatic tumours that appeared to be VIPomas, because the patient had an elevated plasma vasoactive intestinal polypeptide level. MRI showed a low-intensity area in the pituitary suggestive of a pituitary tumour, and a parathyroid tumour was detected by ultrasonography and 99Tc-MIBI scintigraphy. Given these results (...) , the patient was diagnosed with multiple endocrine neoplasia type 1 (MEN1) and scheduled for surgery. MEN1 is an autosomal dominant disorder associated with MEN1 mutations. Genetic testing indicated that the patient had a MEN1 gene mutation; his 2 sons had the same mutations. Most MEN1 tumours are benign, but some pancreatic and thymic tumours could become malignant. Without treatment, such tumours would result in earlier mortality. Despite its rarity, we should perform genetic testing for family members

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2015 BMJ case reports

95. Long-Term Surveillance of Treated Hyperparathyroidism for Multiple Endocrine Neoplasia Type 1: Recurrence or Hypoparathyroidism? (PubMed)

Long-Term Surveillance of Treated Hyperparathyroidism for Multiple Endocrine Neoplasia Type 1: Recurrence or Hypoparathyroidism? Primary hyperparathyroidism (HPT) in multiple endocrine neoplasia type 1 (MEN1) is surgically treated with either a subtotal parathyroidectomy removing 3 or 3,5 glands (SPX), less than 3 glands (LSPX), or a total parathyroidectomy with autotransplantation (TPX). Previous studies with shorter follow-up have shown that LSPX and SPX are associated with recurrent HPT

2015 World Journal of Surgery

96. Limited Parathyroidectomy in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism: A Setup for Failure. (PubMed)

Limited Parathyroidectomy in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism: A Setup for Failure. Recently, some surgeons have suggested that minimally invasive parathyroidectomy guided by preoperative localizing studies of patients with multiple endocrine neoplasia type 1 (MEN1)-associated primary hyperparathyroidism (pHPT) provides an acceptable outcome while minimizing the risk of hypoparathyroidism. This study aimed to evaluate the outcome for MEN1 patients who (...) underwent limited parathyroidectomy compared with subtotal parathyroidectomy.The authors performed a retrospective analysis of 99 patients with MEN1-associated pHPT who underwent at least one parathyroid operation at their institution. Preoperative imaging studies, intraoperative findings, and clinical outcomes for patients were compared.A total of 99 patients underwent 146 operations. Persistent pHPT was significantly higher in patients whose initial operations involved removal of 1 or 2 glands (69

2015 Annals of Surgical Oncology

97. Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story (PubMed)

Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important

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2015 World journal of experimental medicine

98. Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia type 1 (PubMed)

Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia type 1 Pediatric pituitary adenomas are rare, accounting for <3 % of all childhood intracranial tumors, the majority of which are prolactinomas. Consequently, they are often misdiagnosed as other suprasellar masses such as craniopharyngiomas in this age group. Whilst guidelines exist for the treatment of adult prolactinomas, the management of childhood presentations of these benign tumors is less clear (...) , particularly when dopamine agonist therapy fails. Given their rarity, childhood-onset pituitary adenomas are more likely to be associated with a variety of genetic syndromes, the commonest being multiple endocrine neoplasia type 1 (MEN-1).We present a case of an early-onset, treatment-resistant giant prolactinoma occurring in an 11-year-old peripubertal boy that was initially sensitive, but subsequently highly resistant to dopamine agonist therapy, ultimately requiring multiple surgical debulking

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2015 International journal of pediatric endocrinology

99. Results of (68)Gallium-DOTATATE PET/CT Scanning in Patients with Multiple Endocrine Neoplasia Type 1. (PubMed)

Results of (68)Gallium-DOTATATE PET/CT Scanning in Patients with Multiple Endocrine Neoplasia Type 1. Screening for neuroendocrine tumors (NETs) in patients with multiple endocrine neoplasia type 1 (MEN1) is recommended to detect primary and metastatic tumors, which can result in significant morbidity and mortality. The utility of somatostatin receptor imaging (68)Gallium-DOTATATE PET/CT in patients with MEN1 is not known. The aim of this study was to prospectively determine the accuracy of (68

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2015 Journal of the American College of Surgeons

100. Thyroid incidentalomas in patients with Multiple Endocrine Neoplasia type 1. (PubMed)

Thyroid incidentalomas in patients with Multiple Endocrine Neoplasia type 1. Currently, little is known about the prevalence of thyroid tumors in multiple endocrine neoplasia type 1 (MEN1) patients and it is unclear whether tumorigenesis of these thyroid tumors is MEN1-related. The aim of the study was to assess the prevalence of thyroid incidentalomas in MEN1 patients compared with nonMEN1 patients and to verify whether thyroid tumorigenesis is MEN1-related.A cross-sectional study.The study

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2015 European Journal of Endocrinology

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