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Multiple Endocrine Neoplasia Type 1

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

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

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

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 (...) a second, and 2 a third reoperation. In 24 patients genetic testing confirmed MEN1, and in the remaining heredity and phenotype led to the diagnosis.TPX had higher risk for hypoparathyroidism necessitating substitution therapy, at latest follow-up 50%, compared to SPX (16% after 3-6 months; none at latest follow-up). Recurrent HPT was common after LSPX, leading to 24 reoperations in 17 patients. No need for substitution therapy after SPX indicated forthcoming recurrent disease. Not having hypocalcemia

2015 World Journal of Surgery

123. VIPoma with multiple endocrine neoplasia type 1 identified as an atypical gene mutation Full Text available with Trip Pro

, 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 (...) 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

2015 BMJ case reports

124. Thyroid incidentalomas in patients with Multiple Endocrine Neoplasia type 1. Full Text available with Trip Pro

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 (...) included two groups: patients with MEN1 and a matched non-MEN1 control group without known thyroid disease, who underwent an ultrasound of the neck for the localization of parathyroid adenoma. Ninety-five MEN1 patients underwent ultrasound of the neck and were matched on gender and age with non-MEN1 patients. The prevalence of thyroid incidentalomas described in the ultrasound report was scored. Multinodular goiters, solitary nodes, and cysts were scored as incidentalomas. Presence of nuclear menin

2015 European Journal of Endocrinology

125. Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia type 1 Full Text available with Trip Pro

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

2015 International journal of pediatric endocrinology

126. Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story Full Text available with Trip Pro

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 (...) clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative

2015 World journal of experimental medicine

127. Results of (68)Gallium-DOTATATE PET/CT Scanning in Patients with Multiple Endocrine Neoplasia Type 1. Full Text available with Trip Pro

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

2015 Journal of the American College of Surgeons

128. Pembrolizumab (Keytruda) for advanced gastric or gastroesophageal junction adenocarcinoma – first line

will not return all technologies currently in development as these outputs are produced as required for our stakeholders. > > > Pembrolizumab (Keytruda) for advanced gastric or gastroesophageal junction adenocarcinoma – first line Pembrolizumab (Keytruda) for advanced gastric or gastroesophageal junction adenocarcinoma – first line July 2017 Pembrolizumab is an intravenously administered drug that is already approved for use in other types of cancers. It is now explored in a clinical trial as an initial (...) or B-cells. It is the most common form of non-Hodgkin lymphoma among adults. DLBCL is an aggressive cancer and although it can be cured in more than half of people affected, it remains a serious and life threatening disease. Treatment does not work as well for patients with the ABC type compared to patients with other DLBCL types who receive standard treatment. February 2019 Acalabrutinib is a novel oral anti‐cancer drug in clinical development for people with chronic lymphocytic leukaemia (CLL

2017 NIHR Innovation Observatory

129. Avelumab for gastric and gastroesophageal junction adenocarcinoma – third line

as these outputs are produced as required for our stakeholders. > > > Avelumab for gastric and gastroesophageal junction adenocarcinoma – third line Avelumab for gastric and gastroesophageal junction adenocarcinoma – third line May 2017 Avelumab is a new drug that could induce an immune response against tumour cells. It is in clinical trials for several different cancers, including gastric and gastroesophageal adenocarcinoma. One trial is currently exploring its use as a third line treatment for these cancers (...) lymphocytes or B-cells. It is the most common form of non-Hodgkin lymphoma among adults. DLBCL is an aggressive cancer and although it can be cured in more than half of people affected, it remains a serious and life threatening disease. Treatment does not work as well for patients with the ABC type compared to patients with other DLBCL types who receive standard treatment. February 2019 Acalabrutinib is a novel oral anti‐cancer drug in clinical development for people with chronic lymphocytic leukaemia

2017 NIHR Innovation Observatory

130. Phase 1/2 Study of LOXO-292 in Patients With Advanced Solid Tumors, RET Fusion-Positive Solid Tumors, and Medullary Thyroid Cancer

Neoplasms Intestinal Neoplasms Gastrointestinal Neoplasms Digestive System Neoplasms Digestive System Diseases Gastrointestinal Diseases Colonic Diseases Intestinal Diseases Endocrine Gland Neoplasms Head and Neck Neoplasms Neuroendocrine Tumors Neuroectodermal Tumors Neoplasms, Germ Cell and Embryonal Neoplasms by Histologic Type Adenocarcinoma (...) administered orally to patients with advanced solid tumors, including RET-fusion-positive solid tumors, medullary thyroid cancer (MTC) and other tumors with RET activation. Condition or disease Intervention/treatment Phase Non-Small Cell Lung Cancer Medullary Thyroid Cancer Colon Cancer Solid Tumor Drug: LOXO-292 Phase 1 Phase 2 Detailed Description: This is an open-label, multi-center Phase 1/2 study in patients with advanced solid tumors, including RET fusion-positive solid tumors, MTC, and other tumors

2017 Clinical Trials

131. Multiple endocrine neoplasia 2B: Differential increase in enteric nerve subgroups in muscle and mucosa Full Text available with Trip Pro

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

2017 World journal of gastrointestinal pathophysiology

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

Center: Multiple Endocrine Neoplasia Syndromes MEN1 MEN2 Relatives Database Questionnaires Surveys Additional relevant MeSH terms: Layout table for MeSH terms Syndrome Neoplasms Multiple Endocrine Neoplasia Endocrine Gland Neoplasms Disease Pathologic Processes Neoplasms by Site Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Genetic Diseases, Inborn Endocrine System Diseases (...) Center Information provided by (Responsible Party): M.D. Anderson Cancer Center Study Details Study Description Go to Brief Summary: Objectives: To contribute new and prospective data to our existing database library for patients with MEN1 and MEN2 at The University of Texas M.D. Anderson Cancer Center. Condition or disease Intervention/treatment Multiple Endocrine Neoplasia Syndromes Behavioral: Questionnaires Detailed Description: Previously followed MEN1 and MEN2 patients at M.D. Anderson Cancer

2017 Clinical Trials

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

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

134. Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study. Full Text available with Trip Pro

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

2017 Endocrine-Related Cancer

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

and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab 81 (12): 4204-11, 1996. [ ] Carpten JD, Robbins CM, Villablanca A, et al.: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32 (4): 676-80, 2002. [ ] Marx SJ: Multiple endocrine neoplasia type 1. In: Vogelstein B, Kinzler KW, eds.: The Genetic Basis of Human Cancer. New York, NY: McGraw-Hill, 1998, pp 489-506. Warner J, Epstein M, Sweet (...) % [ ] Diabetes mellitus Diarrhea/steatorrhea Gallbladder disease Hypochlorhydria Weight loss MEN1 = multiple endocrine neoplasia type 1. Gastrinomas represent 50% of the gastrointestinal NETs in MEN1 and are the major cause of morbidity and mortality in MEN1 patients.[ , ] Gastrinomas are usually multicentric, with small (<0.5 cm) foci throughout the duodenum.[ ] Most result in peptic ulcer disease (Zollinger-Ellison syndrome), and half are malignant at the time of diagnosis.[ , , ] Nonfunctioning

2018 PDQ - NCI's Comprehensive Cancer Database

136. Association of Type-O Blood with Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1. Full Text available with Trip Pro

Association of Type-O Blood with Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1. The ABO blood type system describes the expression of human blood group antigens found on both erythrocytes and normal tissue throughout the body. We recently reported an association between O blood type and the manifestation of pancreatic neuroendocrine tumors in a cohort of patients with Von Hippel-Lindau syndrome.The aim of the study was to determine whether there is an association of ABO blood (...) type with the development of neuroendocrine tumors in patients with multiple endocrine neoplasia, type 1 (MEN-1).A retrospective analysis of 105 patients with MEN-1 was performed. Demographic, clinical, and biochemical data were analyzed by ABO blood type. Fisher's exact test was used to determine association between ABO blood type and manifestation of neuroendocrine tumor.Demographic and clinical characteristics were similar amongst blood type cohorts. We found an association between O blood type

2012 Journal of Clinical Endocrinology and Metabolism

137. The role of endoscopy in the diagnosis and treatment of cystic pancreatic neoplasms

epitheliumthat stains positive for glycogen Monomorphic endocrine tumor cells; stains positive for chromagranin and synaptophysin Monomorphic cells with round nuclei and eosinophilic or foamy cytoplasm; stains positive for vimentin and a-1-antitrypsin Malignant adenocarcinoma may be seen, but varying degrees of atypia may be present in the specimen Almost none (rare reports) Yes Yes Already present www.giejournal.org Volume 84, No. 1 : 2016 GASTROINTESTINAL ENDOSCOPY 5 Endoscopy in the diagnosis (...) include se- rous cystic neoplasms, mucinous cystic neoplasms, and in- traductal papillary mucinous neoplasms (IPMNs) (Table 2). In addition, certain pancreatic tumors may contain cystic spaces or regions of cystic degeneration, such as solid- pseudopapillary neoplasms, cysticneuroendocrinetumors, and even ductal adenocarcinomas. 9 Recently, several Copyrightª 2016 by the American Societyfor Gastrointestinal Endoscopy 0016-5107/$36.00 http://dx.doi.org/10.1016/j.gie.2016.04.014 www.giejournal.org

2016 American Society for Gastrointestinal Endoscopy

138. Everolimus with exemestane for treating advanced breast cancer after endocrine therapy

project team 33 Everolimus with exemestane for treating advanced breast cancer after endocrine therapy (TA421) © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 34This guidance replaces TA295. 1 1 Recommendations Recommendations 1.1 Everolimus, in combination with exemestane, is recommended within its marketing authorisation, as an option for treating advanced human epidermal growth factor receptor 2 (HER2 (...) )-negative, hormone-receptor-positive breast cancer in postmenopausal women without symptomatic visceral disease that has recurred or progressed after a non-steroidal aromatase inhibitor. Everolimus is recommended only if the company provides it with the discount agreed in the patient access scheme. Everolimus with exemestane for treating advanced breast cancer after endocrine therapy (TA421) © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions

2017 National Institute for Health and Clinical Excellence - Technology Appraisals

139. Invasive lobular carcinoma of the breast: A special histological type compared with invasive ductal carcinoma. Full Text available with Trip Pro

Invasive lobular carcinoma of the breast: A special histological type compared with invasive ductal carcinoma. The clinical outcomes and therapeutic strategies for infiltrating ductal carcinoma (IDC) and infiltrating lobular carcinoma (ILC) are not uniform. The primary objectives of this study were to identify the differences in the clinical characteristics and prognoses between ILC and IDC, and identify the high-risk population based on the hormone receptor status and metastasis sites (...) . The Surveillance, Epidemiology, and End Results Program database was searched and patients diagnosed with ILC or IDC from 1990 to 2013 were identified. In total,796,335 patients were analyzed, including 85,048 withILC (10.7%) and 711,287 withIDC (89.3%). The ILC group was correlatedwith older age, larger tumor size, later stage, lower grade, metastasis disease(M1) disease, and greater counts ofpositive lymph nodesandestrogen-receptor-positive (ER)/progesterone receptor-positive (PR) positive nodes. The overall

2017 PLoS ONE

140. A Safety, Pharmacokinetic, Pharmacodynamic and Anti-Tumor Study of PF-06873600 as a Single Agent and in Combination With Endocrine Therapy

Metastatic breast cancer (MBC) Triple negative breast cancer (TNBC) Epithelial ovarian cancer (EOC) Fallopian tube cancer Primary peritoneal cancer (PPC) CDK4/6 inhibitor Endocrine Therapy (ET) Measurable disease Luteinizing Hormone Releasing Hormone (LHRH) Agonist Goserelin Leuprolide acetate Additional relevant MeSH terms: Layout table for MeSH terms Breast Neoplasms Ovarian Neoplasms Carcinoma, Ovarian Epithelial Fallopian Tube Neoplasms Triple Negative Breast Neoplasms Breast Neoplasms, Male (...) Neoplasms by Site Neoplasms Breast Diseases Skin Diseases Endocrine Gland Neoplasms Ovarian Diseases Adnexal Diseases Genital Diseases, Female Genital Neoplasms, Female Urogenital Neoplasms Endocrine System Diseases Gonadal Disorders Carcinoma Neoplasms, Glandular and Epithelial Neoplasms by Histologic Type Fallopian Tube Diseases

2018 Clinical Trials

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