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Multiple Endocrine Neoplasia Type 1

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81. Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B diagnosed before and in the new Millennium. Full Text available with Trip Pro

Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B diagnosed before and in the new Millennium. Recent long-term outcomes and survival data are lacking for patients with multiple endocrine neoplasia type 2B (MEN2B).To analyze long-term MEN2B outcomes and define prognostic factors.Retrospective comparative study of 75 patients with MEN2B from two German tertiary referral centers. Patients diagnosed and treated before and after 2000 were compared for demographic, biochemical, surgical (...) disease, and 10 (13%) unknown. Medullary thyroid cancer (MTC) caused 22 deaths (29%) 7.3 ± 6.2 years after diagnosis (mean age, 22.9 ± 10.7 years). The overall survival rates at 5, 10, and 20 years were 85%, 74%, and 58%, respectively. After 2000 (vs before 2000), significantly more patients had stage I and II (32% vs 11%) and more were cured (43% vs 20%), with a higher survival trend (P = 0.058). The only prognostic factor was tumor stage at diagnosis.Patients with MEN2B developed MTC at an early age

2017 Journal of Clinical Endocrinology and Metabolism

82. Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B Full Text available with Trip Pro

Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma. Cushing disease is a rare cause of endogenous hypercortisolism in children.We describe a 21-year-old African-American male who was diagnosed at age 10 with an ACTH-secreting pituitary microadenoma. At age 16 he developed medullary thyroid cancer (...) and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene. Following thyroidectomy, he was initiated on Vandetanib, a tyrosine kinase inhibitor, and has since had stable disease over the last 5 years.Our patient is the first individual with MEN2B to be described with Cushing disease. The RET oncogene may play a role in pituitary tumorigenesis; alternatively, the coexistence of these two entities may represent an extremely rare coincidence.

2017 Journal of clinical and translational endocrinology case reports

83. A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11 Full Text available with Trip Pro

A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11 The present study identified the clinical features of the largest multiple endocrine neoplasia type 2 (MEN2) A pedigree from China, with a novel double missense rearranged during transfection (RET) mutation (C634Y/D707E). To the best of our knowledge, the D707E mutation has not been identified to date. In the present study, a total of 101 family members who originated from (...) ) of patients, following thyroidectomy, continued to develop persistent or recurrent disease during the present screening study. In total, 3 patients succumbed to MTC or distant metastasis in the present study. The increase in carcinoembryonic antigen (CEA) levels correlated with the increase in basal serum calcitonin (Ct) levels according to Pearson correlation analysis in patients with MTC without surgery. Ct and CEA levels were also significantly correlated with tumor volumes. To the best of our

2017 Oncology letters

84. Assessment of depression, anxiety, quality of life and coping in long-standing multiple endocrine neoplasia type 2 patients. (Abstract)

Assessment of depression, anxiety, quality of life and coping in long-standing multiple endocrine neoplasia type 2 patients. Data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are scarce.The aim of this study was to assess anxiety, depression, quality of life, and coping in long-standing MEN2 patients.Patients were 43 adults (age ≥18 years) with clinical and genetic diagnosis of MEN2 and long-term follow-up (10.6 ± 8.2 years; range 1-33 years). This was a cross-sectional (...) study with qualitative and quantitative psychological assessment using semi-directed interviews and HADS, EORTC QLQ C30, and MINI-MAC scales. Adopting clinical criteria from 2015 ATA Guidelines on MEN2, biochemical cure (39%; 16/41), persistence/recurrence (61%; 25/41), and stable chronic disease (22/41) of medullary thyroid carcinoma (MTC) were scored. Pheochromocytoma affected 19 (44%) patients, with previous adrenalectomy in 17 of them.Overall, anxiety (42%; mean score 11 ± 2.9; range 8-18

2017 Thyroid

85. Upper Gastrointestinal Cancer (Suspected) - Pancreatic Cancer, Neuroendocrine Tumours of the Pancreas and Duodenum, and Cancer of the Extrahepatic Biliary Tract

, and the remaining are endocrine tumours (pNETs) amounting to < 4% of all pancreatic neoplasms. 1,12 Pancreatic exocrine carcinomas are associated with poor prognosis, and patients are often asymptomatic until late in the course of the disease. 1 Ampullary cancers have a better prognosis than pancreatic adenocarcinoma. 1 The incidence of pancreatic cancer increases significantly from the age of 60. 8 Non-hereditary risk factors include smoking, chronic pancreatitis, diabetes mellitus, obesity, and a possible (...) . 1,2,3 The incidence of these cancers is low (e.g. the incidence of pancreatic cancer in B.C. is 12.55 cases per 100,000 population). 8 Screening with EUS or MRI may be indicated in patients at high risk (see Risk Factors) for pancreatic cancer. 1,7,9,10,11 Background and Risk Factors ! Pancreatic Cancer Pancreatic cancers are of exocrine or endocrine origin. Exocrine tumors are the most common type of pancreatic cancer, of which 85% are adenocarcinoma. 1 Approximately 10% are adenosquamous carcinoma

2016 Clinical Practice Guidelines and Protocols in British Columbia

86. A case report of mixed acinar-endocrine carcinoma of the pancreas treated with S-1 chemotherapy: Does it work or induce endocrine differentiation? Full Text available with Trip Pro

A case report of mixed acinar-endocrine carcinoma of the pancreas treated with S-1 chemotherapy: Does it work or induce endocrine differentiation? Acinar cell carcinomas (ACCs) and mixed acinar-endocrine carcinomas (MAECs) of the pancreas are rare, accounting for only 1% of pancreatic tumors. Although both typically present at an advanced stage, chemotherapeutic regimes have not yet been standardized.A 65-year-old man presented with a large mass in the pancreatic tail with multiple liver (...) metastases.He was initially treated with gemcitabine for suspected ductal carcinoma of the pancreas, but no response was observed. S-1, administered as second-line chemotherapy, showed an approximately 38% reduction in the size of the primary tumor and metastatic deposits with therapeutic effects being maintained for 12 months. When the tumor progressed again, he underwent a percutaneous liver biopsy, which led to the diagnosis of MAEC. Combination therapy with cisplatin and etoposide targeting

2017 Medicine

87. Overview of brain tumours

/content/118/3/510.long http://www.ncbi.nlm.nih.gov/pubmed/21613254?tool=bestpractice.com Clinically non-functional adenomas (CNFA) are associated with multiple endocrine neoplasia type 1 (MEN-1), Levy A. Molecular and trophic mechanisms of tumorigenesis. Endocrinol Metab Clin N Am. 2008 Mar;37(1):23-50. http://www.ncbi.nlm.nih.gov/pubmed/18226729?tool=bestpractice.com familial isolated pituitary adenomas, Daly AF, Jaffrain-Rea ML, Ciccarelli A, et al. Clinical characterization of familial isolated (...) % of all non-malignant tumours. Ostrom QT, Gittleman H, Farah P, et al. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2006-2010. Neuro Oncol. 2013;15(suppl 2):1-56. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798196/ http://www.ncbi.nlm.nih.gov/pubmed/24137015?tool=bestpractice.com They are more common in women, and are usually benign. Neurological deficit and progressive, focal, or general headaches (in large tumours) are common. Tumours

2018 BMJ Best Practice

88. Overview of brain tumours

/content/118/3/510.long http://www.ncbi.nlm.nih.gov/pubmed/21613254?tool=bestpractice.com Clinically non-functional adenomas (CNFA) are associated with multiple endocrine neoplasia type 1 (MEN-1), Levy A. Molecular and trophic mechanisms of tumorigenesis. Endocrinol Metab Clin N Am. 2008 Mar;37(1):23-50. http://www.ncbi.nlm.nih.gov/pubmed/18226729?tool=bestpractice.com familial isolated pituitary adenomas, Daly AF, Jaffrain-Rea ML, Ciccarelli A, et al. Clinical characterization of familial isolated (...) % of all non-malignant tumours. Ostrom QT, Gittleman H, Farah P, et al. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2006-2010. Neuro Oncol. 2013;15(suppl 2):1-56. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798196/ http://www.ncbi.nlm.nih.gov/pubmed/24137015?tool=bestpractice.com They are more common in women, and are usually benign. Neurological deficit and progressive, focal, or general headaches (in large tumours) are common. Tumours

2018 BMJ Best Practice

89. Skin Malignancies, Merkel Cell Carcinoma and Rare Appendageal Tumors

cell carcinoma and squamous cell carcinoma (BCC) and comprise the majority of nonmelanoma malignant skin cancers. BCC is the most common malignant neoplasm. BCC is typically locally invasive, but it can metastasize on rare occasions. The most common primary site of metastatic BCC is the scrotum, where the rate of metastatic disease is 12%. Occurrence on the head and neck can also set the stage for the spread of BCC, but this is less common. SCC is a malignant neoplasm arising from transformed (...) the anogenital region in both sexes. These nonanogenital hidradenoma papilliferum have been termed ectopic hidradenoma papilliferum and occur frequently (60%) in the head and neck region. [ ] Simple surgical excision is definitive treatment. [ , ] Apocrine adenocarcinoma (extramammary Paget disease) Clinical presentation Paget disease commonly refers to the malignant infiltration of breast cancer (typically ductal carcinoma) into the apocrine glands of the areola of the nipple. Extramammary Paget disease

2014 eMedicine Surgery

90. Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives Full Text available with Trip Pro

Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives Multiple endocrine neoplasia (MEN) syndromes are infrequent inherited disorders in which more than one endocrine glands develop noncancerous (benign) or cancerous (malignant) tumors or grow excessively without forming tumors. There are 3 famous and well-known forms of MEN syndromes (MEN 1, MEN 2A, and MEN 2B) and a newly documented one (MEN4). These syndromes are infrequent and occurred in all ages and both men (...) and women. Usually, germ line mutations that can be resulted in neoplastic transformation of anterior pituitary, parathyroid glands, and pancreatic islets in addition to gastrointestinal tract can be an indicator for MEN1. The medullary thyroid cancer (MTC) in association with pheochromocytoma and/or multiple lesions of parathyroid glands with hyperparathyroidism can be pointer of MEN2 which can be subgrouped into the MEN 2A, MEN 2B, and familial MTC syndromes. There are no distinct biochemical markers

2018 Biomarker insights

91. Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901–2014: a nationwide study Full Text available with Trip Pro

Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901–2014: a nationwide study The incidence and prevalence of multiple endocrine neoplasia 2A (MEN2A) have only been reported once in a nationwide setting. However, it is unclear whether the figures are representative of other populations, as the major component of the syndrome, hereditary medullary thyroid carcinoma (MTC), has been reported as rare in the same country. We conducted a nationwide retrospective cohort study (...) million live births per year. Incidence for the specific mutations or for the overall MEN2A group did not change significantly from 1901 to 2014 (P>0.05). Point prevalence at January 1, 2015, was 24 per million (95% CI: 20-28).The incidence and prevalence of MEN2A in Denmark seem higher than those reported in other countries. This is likely explained by the Danish C611Y founder effect. Also, our data indicate no significant change in MEN2A incidence during the last century.

2018 Clinical epidemiology

92. Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect Full Text available with Trip Pro

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect Multiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refers to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Forty patients underwent RET testing by Sanger sequencing of exons 10-11 and 13-16. Genotyping with STR genetic markers flanking the RET gene along with Y

2018 Journal of endocrinological investigation

93. Gallium-68 PET Imaging in Neuroendocrine Tumours

individuals for their assistance in developing this report: ? Melissa Brouwers and Xiaomei Yao for providing feedback on draft versions. ? Karthik Kannan for conducting a data audit. ? Sara Miller for copy editing. PET Recommendation Report 19 Section 3: Evidence Review - April 2, 2018 Page 6 Gallium-68 PET Imaging in Neuroendocrine Tumours Section 3: Systematic Review INTRODUCTION NETs are a heterogeneous group of neoplasms that arise from cells of the endocrine and nervous systems. These tumours can (...) Gallium-68 PET Imaging in Neuroendocrine Tumours PET Recommendation Report 19 PET Recommendation Report 19 A Quality Initiative of the Program in Evidence-Based Care (PEBC), Cancer Care Ontario (CCO) Gallium-68 PET Imaging in Neuroendocrine Tumours S. Singh, R. Poon, R. Wong, U. Metser Report Date: November 26, 2018 For information about this document, please contact Dr. Simron Singh, the lead author, through the PEBC via: Phone: 905-527-4322 ext. 42822 Fax: 905 526-6775 E-mail: ccopgi

2018 Cancer Care Ontario

94. Multiple Endocrine Neoplasia Type 2

that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease. Concepts Neoplastic Process ( T191 ) MSH ICD9 258.02 ICD10 SnomedCT 61808009 English MEA II , MEN II , Sipple Syndrome , MEA 2a , MEA IIa , MEN 2 , MEN 2a , MEN IIa , MEN2a , Multiple Endocrine Neoplasia Type 2a , Multiple Endocrine Neoplasms Type 2a , Neoplasia, Multiple Endocrine Type 2a , Neoplasms, Multiple Endocrine Type 2a , MEN syndrome type 2A , Multiple endoc neoplas type 2A , MEA Type 2a , MEN Type 2a (...) 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

2018 FP Notebook

95. Low Accuracy of Tumor Markers for Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients. Full Text available with Trip Pro

Low Accuracy of Tumor Markers for Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients. The assessment of tumor markers for diagnosing pancreatic neuroendocrine tumors (pNET) in multiple endocrine neoplasia type 1 (MEN1) patients is advised in the current guidelines but has never been validated for this purpose.The objective of the study was to assess the diagnostic accuracy of chromogranin A (CgA), pancreatic polypeptide (PP), and glucagon for pNET (...) in MEN1.This was a diagnostic study.The study was conducted at Dutch university medical centers from 2008 to 2011, representing 90% of the total Dutch MEN1 population.Patients for whom data on tumor markers in combination with the reference standard (ie, radiological imaging) were available between 2008 and 2011 were included. The reference standard for the presence of pNET was pathology or detection on magnetic resonance imaging, computed tomography, or endoscopic ultrasound confirmed on subsequent

2013 Journal of Clinical Endocrinology and Metabolism

96. Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies Full Text available with Trip Pro

Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies Most patients (70-90%) with the multiple endocrine neoplasia type 1 (MEN1) syndrome possess germline heterozygous mutations in MEN1 that predisposes to tumors of multiple endocrine and nonendocrine tissues. Some endocrine tumors of the kinds seen in MEN1 that occur sporadically in the general population also possess somatic mutations in MEN1. Interestingly, the endocrine tumors of MEN1 (...) are recapitulated in mouse models of Men1 loss that serve as a valuable resource to understand the pathophysiology and molecular basis of tumorigenesis. Exploring these endocrine tumors in mouse models using in vivo, ex vivo and in vitro methods can help to follow the process of tumorigenesis, and can be useful for preclinical testing of therapeutics and understanding their mechanisms of action.

2014 International journal of endocrine oncology

97. Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1. Full Text available with Trip Pro

Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1. Mutations of the multiple endocrine neoplasia type 1 (MEN1) gene lead to loss of function of its protein product menin. In keeping with its tumor suppressor function in endocrine tissues, the majority of the MEN1-related neuroendocrine tumors (NETs) show loss of heterozygosity (LOH) on chromosome 11q13. In sporadic NETs, MEN1 mutations and LOH are also reported, indicating common pathways in tumor (...) development. Prevalence of thymic NETs (thNETs) and pulmonary carcinoids in MEN1 patients is 2-8%. Pulmonary carcinoids may be underreported and research on natural history is limited, but disease-related mortality is low. thNETs have a high mortality rate. Duodenopancreatic NETs (dpNETs) are multiple, almost universally found at pathology, and associated with precursor lesions. Gastrinomas are usually located in the duodenal submucosa while other dpNETs are predominantly pancreatic. dpNETs

2014 Endocrine-Related Cancer

98. Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors. Full Text available with Trip Pro

Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors. Multiple endocrine neoplasia type 1 (MEN1) is classically characterized by the development of functional or nonfunctional hyperplasia or tumors in endocrine tissues (parathyroid, pancreas, pituitary, adrenal). Because effective treatments have been developed (...) for the hormone excess state, which was a major cause of death in these patients in the past, coupled with the recognition that nonendocrine tumors increasingly develop late in the disease course, the natural history of the disease has changed. An understanding of the current causes of death is important to tailor treatment for these patients and to help identify prognostic factors; however, it is generally lacking.To add to our understanding, we conducted a detailed analysis of the causes of death

2013 Medicine

99. The Society for Immunotherapy of Cancer consensus statement on immunotherapy for the treatment of squamous cell carcinoma of the head and neck (HNSCC) Full Text available with Trip Pro

for all patients with HNSCC and pembrolizumab as a single agent for patients with HNSCC whose tumors express a PD-L1 combined positive score ≥ 1. These approvals marked the first new therapies for these patients since 2006, as well as the first immunotherapeutic approvals in this disease. In light of the introduction of these novel therapies for the treatment of patients with head and neck cancer, The Society for Immunotherapy of Cancer (SITC) formed an expert committee tasked with generating (...) , this panel focused solely on FDA-approved drugs for the treatment of patients in the U.S. Introduction Squamous cell carcinoma of the head and neck (HNSCC) is the 9th leading cancer by incidence worldwide and constitutes 90% of all head and neck cancers [ , ]. In the US, approximately 50,000 new cases of HNSCC and more than 10,000 deaths occur per year [ , , , ]. HNSCC is a biologically diverse and genomically heterogeneous disease that arises from the squamous mucosal lining of the upper aerodigestive

2019 Society for Immunotherapy of Cancer

100. Animal model of human disease. Medullary thyroid carcinoma, multiple endocrine neoplasia, Sipple's syndrome. Animal model: ultimobranchial thyroid neoplasm in the bull. Full Text available with Trip Pro

Animal model of human disease. Medullary thyroid carcinoma, multiple endocrine neoplasia, Sipple's syndrome. Animal model: ultimobranchial thyroid neoplasm in the bull. 4811759 1974 04 02 2018 11 13 0002-9440 74 2 1974 Feb The American journal of pathology Am. J. Pathol. Animal model of human disease. Medullary thyroid carcinoma, multiple endocrine neoplasia, Sipple's syndrome. Animal model: ultimobranchial thyroid neoplasm in the bull. 377-80 Capen C C CC Black H E HE eng Journal Article (...) United States Am J Pathol 0370502 0002-9440 AIM IM Adenoma genetics pathology Animals Carcinoma pathology Cattle Cattle Diseases pathology Disease Models, Animal Humans Male Parathyroid Neoplasms genetics pathology Pheochromocytoma genetics pathology Syndrome Thyroid Neoplasms genetics pathology veterinary 1974 2 1 1974 2 1 0 1 1974 2 1 0 0 ppublish 4811759 PMC1910773 Cornell Vet. 1971 Oct;61(4):625-39 5166135 Cancer. 1973 Oct;32(4):865-78 4356482 Pathol Vet. 1969;6(1):1-14 5802694 Virchows Arch B

1974 The American journal of pathology

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