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Multiple Endocrine Neoplasia Type 1

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21. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study Full Text available with Trip Pro

and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection.This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions. The study was done with registry data from 48 centres globally. Data from patients followed-up from 1970 to 2016 were retrieved from May 1, 2016, to May 31, 2018. Our primary objectives were to determine overall survival, and medullary thyroid carcinoma-specific (...) Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype

2019 EvidenceUpdates

22. Concomitant thyroid cancer in patients with Multiple Endocrine Neoplasia (MEN)-1 undergoing surgery for primary hyperparathyroidism. (Abstract)

Concomitant thyroid cancer in patients with Multiple Endocrine Neoplasia (MEN)-1 undergoing surgery for primary hyperparathyroidism. Compared to those with sporadic primary hyperparathyroidism (SPHP), multiple endocrine neoplasia type 1 (MEN1) patients with primary hyperparathyroidism (MPHP) typically require more extensive dissection and have higher recurrence rates. Little is known about the risk of concomitant thyroid cancer in either setting. This study aimed to determine the rates (...) and characteristics of thyroid cancer for MPHP versus SPHP patients undergoing parathyroidectomy.Patients with MPHP (diagnosed by clinical and/or genetic criteria) or SPHP who had initial or reoperative parathyroid exploration from 1967 to 2014 were identified via a prospective database. The thyroid cancer-specific data for MPHP patients (n = 29) were compared to a selected 2:1 age- and sex-matched SPHP cohort (n = 58) who all had concurrent thyroidectomy for any reason. Clinically significant thyroid cancer

2019 Thyroid

23. Neratinib (Nerlynx) - Breast cancer, breast neoplasms

disease-free survival DFS-DCIS disease-free survival including ductal carcinoma in situ ECG electrocardiogram ECOG Eastern Cooperative Oncology Group EGFR epidermal growth factor receptor EQ-5D EuroQol 5-Dimension Questionnaire ER estrogen receptor ERBB erythroblastic leukemia viral oncogene homolog; also termed HER ExteNET Extended Adjuvant Treatment of Breast Cancer with Neratinib FACT-B Functional Assessment of Cancer Therapy-Breast FMO flavin-containing monooxygenase GI gastrointestinal HER human (...) -stage HER2-overexpressed/amplified breast cancer at high risk of recurrence (node positive and within 1 year of completion of prior adjuvant trastuzumab based therapy). 2.1.2. Epidemiology, screening tools/prevention Breast cancer is the most frequently diagnosed malignancy in women and the leading cause of cancer mortality in women worldwide. In 2012, the estimated age-adjusted annual incidence of breast cancer Assessment report EMA/CHMP/525204/2018 Page 9/169 in 40 European countries was 94.2/100

2018 European Medicines Agency - EPARs

24. Results of Duodenopancreatic Reoperations in Multiple Endocrine Neoplasia Type 1. (Abstract)

Results of Duodenopancreatic Reoperations in Multiple Endocrine Neoplasia Type 1. To evaluate the outcome of duodenopancreatic reoperations in patients with multiple endocrine neoplasia type 1 (MEN1).MEN1 patients who underwent reoperations for duodenopancreatic neuroendocrine neoplasms (dpNENs) were retrieved from a prospective database and retrospectively analyzed.Twelve of 101 MEN1 patients underwent up to three reoperations, resulting in a total of 18 reoperations for dpNEN recurrence (...) . Patients initially underwent either formal pancreatic resections (n = 7), enucleations (n = 3), or duodenotomy with lymphadenectomy for either NF-pNEN (seven patients), Zollinger-Ellison syndrome (ZES, three patients), organic hyperinsulinism (one patient) or VIPoma (one patient). Six patients had malignant dpNENs with lymph node (n = 5) and/or liver metastases (n = 2). The indication of reoperations was NF-pNEN (five patients), ZES (five patients), organic hyperinsulinism (one patient), and recurrent

2018 World Journal of Surgery

25. ‘Quality in, quality out’, a stepwise approach to evidence-based medicine for rare diseases promoted by multiple endocrine neoplasia type 1 Full Text available with Trip Pro

‘Quality in, quality out’, a stepwise approach to evidence-based medicine for rare diseases promoted by multiple endocrine neoplasia type 1 Rare diseases pose specific challenges in the field of medical research to provide physicians with evidence based guidelines derived from studies with sufficient quality. An example of these rare diseases is multiple endocrine neoplasia type 1 (MEN1), which is an autosomal dominant endocrine tumor syndrome with an estimated occurrence rate of 2-3 per (...) 100.000. For this complex disease, characterized by multiple endocrine tumors, it proves difficult to perform both adequate and feasible studies. The opinion of patients themselves is of utmost importance to identify the gaps in the evidence based medicine regarding clinical care. In the search for scientific answers to clinical research questions, the aim for best available evidence is obvious. Observational studies within patient cohorts, although prone to bias, seem the most feasible study design

2018 Endocrine connections

26. Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications Full Text available with Trip Pro

Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications Background: The choice of surgical treatment for patients with Multiple Endocrine Neoplasia type 1 (MEN1)-related primary hyperparathyroidism (PHPT) remains controversial and it has not been specifically addressed in young patients. Methods: This is a retrospective case series study. The study includes (...) the surgical data and the follow-up of 38 patients younger than 30 years of age, all diagnosed with MEN1, collected and followed-up between 1991 and 2017 at the Regional Referral Center for Inherited Endocrine Tumors of the Tuscany Region, and operated by parathyroidectomy. Genetic and/or clinical MEN1 diagnosis was made before surgery in all patients. Subtotal (9/38 patients) or total parathyroidectomy with auto-transplantation (28/38 patients) were performed in all patients but one, in whom a single

2018 Frontiers in endocrinology

27. Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1 Full Text available with Trip Pro

Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1 30065698 2018 11 14 1664-2392 9 2018 Frontiers in endocrinology Front Endocrinol (Lausanne) Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1. 359 10.3389/fendo.2018.00359 Marx Stephen J SJ Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD (...) Endocrinol Metab. 2014 Oct;99(10):3561-9 25162665 Int J Endocrinol. 2010;2010:906163 20585352 J Bone Miner Res. 2010 Nov;25(11):2382-91 20499354 QJM. 1996 Sep;89(9):653-69 8917740 Cancer Genet. 2016 Jan-Feb;209(1-2):36-41 26767918 Eur J Endocrinol. 2014 Aug;171(2):K7-K17 24819502 Case Rep Endocrinol. 2015;2015:510985 26257968 J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011 22723327 Pathobiology. 2007;74(5):279-84 17890894 Am J Pathol. 2002 Oct;161(4):1299-306 12368203 Endocrine. 2016 Jun;52(3):495-506

2018 Frontiers in endocrinology

28. Gastrinoma of Cystic Duct: A Rare Association With Multiple Endocrine Neoplasia Type 1 Full Text available with Trip Pro

Gastrinoma of Cystic Duct: A Rare Association With Multiple Endocrine Neoplasia Type 1 Neuroendocrine tumors (NETs) of cystic duct are extremely rare, accounting for less than 2% of NET cases. The association of biliary tree NET and multiple endocrine neoplasm type 1 (MEN1) are even more rare. In this report, we described a case of a 65-year-old woman who was referred to our neuroendocrine outpatient clinic to investigate MEN1 after an incidental diagnosis of gastrinoma. Her medical history (...) initiated 7 years earlier with severe peptic disease not responsive to proton pump inhibitor therapy. Endoscopic study revealed erosive antral gastritis, erosive duodenitis, bulbar ulcer and pyloric deformity. During follow-up she presented with abdominal pain, chronic diarrhea and weight loss; an ultrasonography was performed and showed only a cholelithiasis. She underwent a video laparoscopic cholecystectomy and all her symptoms were solved. Histopathological study found a 1.0 cm well differentiated

2018 Journal of clinical medicine research

29. Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence Full Text available with Trip Pro

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant disease that generally presents with primary hyperparathyroidism. However, initial presentation may vary and continued reevaluation of etiology of symptoms is required for appropriate diagnosis.Twelve year old female presented with altered mental status that self-resolved and hypoglycemia. Laboratory evaluation (...) be investigated for other potential endocrine tumors. Multiple imaging modalities may be required to confidently identify neuroendocrine tumors for appropriate surgical intervention.

2018 International journal of pediatric endocrinology

30. Germline and somatic mosaicism in a family with Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. Full Text available with Trip Pro

Germline and somatic mosaicism in a family with Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1 and can be diagnosed based on clinical, familial and/or genetic criteria. We present a family in which we found both germline and somatic mosaicism for MEN1. Family description In our proband, we diagnosed MEN1. The mutation was not detected in her parents (...) (DNA extracted from leucocytes). When her brother was found to harbor the same MEN1 mutation as our proband and, around the same time, their father was diagnosed with a neuroendocrine carcinoma, this tumor was investigated for the MEN1 mutation as well. In the histologic biopsy of this tumor, the same MEN1 mutation was detected as previously found in his children. Re-analysis of his blood using multiplex ligation-dependent probe amplification (MLPA) showed a minimal, but consistently decreased

2018 European Journal of Endocrinology

31. Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing Full Text available with Trip Pro

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing Background Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might occur in some of the remaining patients; however, this hypothesis has not yet been fully investigated. Objective To sequence for the entire MEN1 including promoter, exons

2018 European Journal of Endocrinology

32. Recent Topics Around Multiple Endocrine Neoplasia Type 1. Full Text available with Trip Pro

Recent Topics Around Multiple Endocrine Neoplasia Type 1. Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are presented for their developments since publication of the most recent MEN1 consensus guidelines 6 years ago.Topics were selected for clinical impact or broad interest or both. For each topic, information was obtained from original reports (...) and reviews.The selected topics are as follows: tumor behavior and breast cancer in MEN1; foregut neuroectoderm tumor screening, biomarkers periodically to detect tumor emergence of foregut neuroectoderm tumors, 68Ga dotatate positron emission tomography/computed tomography for pancreatic and duodenal neuroectodermal tumor imaging, and glucagon-like peptide-1 receptor scintigraphy for insulinoma; therapy, the size of pancreatic neuroendocrine tumor (NET) as one criterion for surgery, minimally invasive

2018 Journal of Clinical Endocrinology and Metabolism

33. High fear of disease occurrence is associated with low quality of life in patients with Multiple Endocrine Neoplasia type 1 (MEN1): Results from the Dutch MEN1 Study Group. Full Text available with Trip Pro

High fear of disease occurrence is associated with low quality of life in patients with Multiple Endocrine Neoplasia type 1 (MEN1): Results from the Dutch MEN1 Study Group. Multiple endocrine neoplasia type 1 (MEN1) is a hereditary disease characterized by a high risk of developing primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors, and pituitary tumors (PITs). It is unclear if having MEN1 leads to psychological distress because of fear of disease occurrence (FDO), thereby (...) % of patients having a score ≥14. This is higher than reported in previous studies assessing fear of cancer recurrence in different cancer populations (31% to 52%). Adjusted for age and sex, the FDO score was negatively associated with almost all SF-36 subscales. In multivariable analysis, the diagnosis of a PIT, a pancreatic neuroendocrine tumor, and not being employed were associated with FDO (P < 0.05). Patients had higher FDO scores for their family members than for themselves.The majority of patients

2018 Journal of Clinical Endocrinology and Metabolism

34. Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients Full Text available with Trip Pro

Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. Disease onset, penetrance, clinical presentation, course and prognosis are all extremely variable, even among individuals (...) for Inherited Endocrine Tumours of the Tuscany Region, during the last three decades. We reported, here, the results of clinical, epidemiological and genetic descriptive statistics, as well as correlation analyses between tumours and mutation types and localisation. No direct genotype-phenotype correlation was described, but the importance of the genetic testing was confirmed for an early diagnosis and the identification of asymptomatic carriers.As with all rare diseases, the possibility to collect

2018 Orphanet journal of rare diseases

35. Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer

and whether a person would benefit from chemotherapy. The test is for pre and postmenopausal people with stage 1 or 2 breast cancer, with a tumour size of 5 cm or less, and LN-negative or LN-positive disease (up to 3 positive nodes). The test can be used irrespective of ER and HER2 status. 3.9 MammaPrint measures the expression of 70 genes, including genes associated with 7 different parts of the metastatic pathway: growth and proliferation, angiogenesis, local invasion, entering the circulation, survival (...) counting using fluorescent probes and an nCounter Digital Analyser. 3.21 Prosigna classifies the risk of distant recurrence within 10 years, assuming 5 years of endocrine therapy, based on the PAM50 gene signature, breast cancer subtype, tumour size, nodal status and proliferation score. The proliferation score is determined by evaluating multiple genes associated with the proliferation pathway. The test gives a score between 0 and 100. Based on this score and the nodal status, samples are classified

2019 National Institute for Health and Clinical Excellence - Diagnostics Guidance

36. Clinical Study of Redirected Autologous T Cells With a Chimeric Antigen Receptor in Patients With Malignant Tumors

: No Studies a U.S. FDA-regulated Device Product: No Additional relevant MeSH terms: Layout table for MeSH terms Carcinoma Adenocarcinoma Carcinoma, Hepatocellular Lymphoma, B-Cell Neoplasms Pancreatic Neoplasms Leukemia, B-Cell Leukemia, Lymphocytic, Chronic, B-Cell Neoplasms, Glandular and Epithelial Neoplasms by Histologic Type Liver Neoplasms Digestive System Neoplasms Neoplasms by Site Digestive System Diseases Liver Diseases Lymphoma, Non-Hodgkin Lymphoma Lymphoproliferative Disorders Lymphatic (...) tumors with positive antigen targets. CAR T cells are genetically engineered to express single-chain variable fragment (scFv) targeting indication-specific antigens. The investigational CAR T cells and proposed indications are as follows: CAR-CD19 T cells for B cell leukaemia/lymphoma; CAR-BCMA T cells for myeloma; CAR-GPC3 T cell for hepatocellular carcinoma; CAR-CLD18 T cells for pancreatic carcinoma and adenocarcinoma of esophagogastric junction. Condition or disease Intervention/treatment Phase B

2017 Clinical Trials

37. A Study of LXI-15029 in Patients With Advanced Malignant Solid Tumors

patients with metastatic or locally advanced breast cancer with estrogen receptor (+) and human epidermal growth factor receptor 2 (-) in combined with Exemestane period , including confirmation of the maximum tolerated dose(MTD) of the combined therapy with Exemestane. Condition or disease Intervention/treatment Phase Advanced Breast Cancer Drug: LXI-15029 Drug: LXI-15029+Exemestane Phase 1 Study Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Estimated (...) , or manifestations of edema or progression in radiology; History of other tumors within 5 years, except cured carcinoma in situ of cervix or cutaneous basal cell carcinoma; Exclusion criteria on concomitant disease and organ function: The toxicity induced by treatment unable to be recovered or stabilized to grade 1 or below except alopecia (CTCAE 4.03); Hemotology and coagulation abnormal defined in protocol; Hepatic function abnormal defined in protocol; Renal function abnormal defined in protocol; Cholesterol

2017 Clinical Trials

38. 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. Full Text available with Trip Pro

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

2016 Endocrinology

39. Thymoma (World Health Organization type B3) with neuroendocrine differentiation in multiple endocrine neoplasia type 1 Full Text available with Trip Pro

Thymoma (World Health Organization type B3) with neuroendocrine differentiation in multiple endocrine neoplasia type 1 Thymic epithelial tumors occur in 1-5% of patients with multiple endocrine neoplasia type 1 (MEN 1). Majority of these thymic epithelial tumors are thymic carcinoids and patients with thymoma in MEN 1 is rare. Furthermore, thymoma with neuroendocrine differentiation was also rarely reported. Herein, we report a 68-year-old man having type B3 thymoma with neuroendocrine (...) differentiation in MEN 1 and to the best of our knowledge this is the first such case ever reported.

2017 Journal of surgical case reports

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

Neuroectodermal Tumors Neoplasms, Germ Cell and Embryonal Neoplasms by Histologic Type Neoplasms, Nerve Tissue Parathyroid Diseases Endocrine System Diseases Adenoma Neoplasms, Glandular and Epithelial Pancreatic Neoplasms Digestive System Neoplasms Neoplasms by Site Digestive System Diseases Pancreatic Diseases Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Genetic Diseases, Inborn (...) for additional information Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Keywords provided by M.D. Anderson Cancer Center: Multiple Endocrine Neoplasia Pancreatic Neuroendocrine Tumors Hyperparathyroidism HPTH PNET Biomarkers Parathyroidectomy Genome sequencing Data review Additional relevant MeSH terms: Layout table for MeSH terms Neoplasms Neuroendocrine Tumors Hyperparathyroidism Adenoma, Islet Cell Multiple Endocrine Neoplasia Endocrine Gland Neoplasms

2017 Clinical Trials

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