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Multiple Endocrine Neoplasia Type 1

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121. A rare case of juvenile hypertension: coexistence of type 2 multiple endocrine neoplasia -related bilateral pheochromocytoma and reninoma in a young patient with ACE gene polymorphism. (PubMed)

A rare case of juvenile hypertension: coexistence of type 2 multiple endocrine neoplasia -related bilateral pheochromocytoma and reninoma in a young patient with ACE gene polymorphism. Pheochromocytoma and reninoma represent two rare diseases causing hypertension. We here reported a rare case of association between type 2 multiple endocrine neoplasia related bilateral pheochromocytoma and reninoma. Moreover, polymorphism of ACE gene, which is known to be related to an increase of cardiovascular (...) the presence of severe hypertension (220/140 mmHg) and a severe increase of urinary catecholamines and metanephrines. Due to the presence of hypokalemia, other causes of hypertension were researched leading to the discovery of hyperreninemia (236 μUI/ml) with mild hyperaldosteronism, and a mild increase of the renal artery resistance at ultrasound. An abdominal MRI showed multiple adrenal masses and a right kidney nodular lesion of about 2 cm. The patient underwent bilateral adrenalectomy and right

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2015 BMC Endocrine Disorders

122. Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A. (PubMed)

Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A. Although technological progress revolutionized detection of genetic predisposition to medullary thyroid cancer (MTC), carriers of mutations of disparate risks may not have benefitted alike from screening.This investigation aimed at assessing the achievements of screening for multiple endocrine neoplasia type 2A (MEN 2A) in Germany and identifying current challenges.This was a retrospective analysis comprising 455

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2015 Journal of Clinical Endocrinology and Metabolism

123. Postoperative Complications After Prophylactic Thyroidectomy for Very Young Patients With Multiple Endocrine Neoplasia Type 2: Retrospective Cohort Analysis. (PubMed)

Postoperative Complications After Prophylactic Thyroidectomy for Very Young Patients With Multiple Endocrine Neoplasia Type 2: Retrospective Cohort Analysis. The aim of this study was to investigate whether younger age at surgery is associated with the increased incidence of postoperative complications after prophylactic thyroidectomy in pediatric patients with multiple endocrine neoplasia (MEN) 2. The shift toward earlier thyroidectomy has resulted in significantly less medullary thyroid

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2015 Medicine

124. 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

2016 PDQ - NCI's Comprehensive Cancer Database

125. Corneal xanthogranuloma in association with multiple endocrine neoplasia 1: A clinicopathologic case report and review of the literature (PubMed)

an extensive right eye corneal lesion in a 43-year old male which showed the typical histopathological feature of JXG and in association with multiple endocrine neoplasia (type 1). Similar cases in the English-language literature have been also reviewed. (...) Corneal xanthogranuloma in association with multiple endocrine neoplasia 1: A clinicopathologic case report and review of the literature Juvenile xanthogranuloma (JXG) is a benign inflammatory condition of uncertain pathogenesis. It is characterized by skin and ocular involvement - typically in the iris - in children. It has been reported in older age groups and has been also observed to involve other ocular structures such as the cornea and conjunctiva. In this case report, we are presenting

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2015 Saudi Journal of Ophthalmology

126. Multiple endocrine neoplasia syndromes 1 and 2: manifestations and management in childhood and adolescence. (PubMed)

Multiple endocrine neoplasia syndromes 1 and 2: manifestations and management in childhood and adolescence. The identification of the genetic causes of the multiple endocrine neoplasia (MEN) syndromes 1 and 2, and associated genotype-phenotype relationships, has revolutionised the clinical care of affected patients. A genetic diagnosis can be made during infancy and careful clinical surveillance, coupled with early intervention, has the potential to improve both morbidity and mortality

2015 Archives of Disease in Childhood

127. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study. (PubMed)

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study. The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine neoplasia type 2 (...) , phaeochromocytoma, is not as well characterised in terms of occurrence and treatment outcomes. In this study, we aimed to systematically characterise the outcomes of management of phaeochromocytoma associated with multiple endocrine neoplasia type 2.This multinational observational retrospective population-based study compiled data on patients with multiple endocrine neoplasia type 2 from 30 academic medical centres across Europe, the Americas, and Asia. Patients were included if they were carriers of germline

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2014 Lancet Oncology

128. RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation. (PubMed)

RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation. Specific germline mutations in the RET proto-oncogene are correlated with clinical features in multiple endocrine neoplasia type 2A (MEN2A); however, data are scarce regarding differences in clinical profiles dependent on the type of nucleotide and amino acid substitution at the same codon. We aimed to analyse differences in clinical risk profiles and outcomes among different (...) amino acids encoded by codon 634.The study was retrospective and multicentric.We collected data included in the Spanish Online National Database from patients with MEN2A carrying a RET proto-oncogene mutation on codon 634. The mean follow-up time was 7.6±6.9 years (1-32).Patients (n=173) from 49 unrelated families were C634Y carriers, and 26 patients from eight different families had C634R mutation. We found higher penetrance of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism

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2014 European Journal of Endocrinology

129. The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review. (PubMed)

The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review. The co-occurrence of Hirschsprung's disease (HSCR) and multiple endocrine neoplasia type 2 (MEN2) is a relatively rare event. The basis for this association is the presence of a "Janus" mutation in the RET proto-oncogene--a mutation that acts simultaneously as both a gain-in-function and a loss-of-function mutation. To date, four mutations in the exon 10 region of RET that are known

2014 Pediatric surgery international

130. Multiple Endocrine Neoplasia, Type 2 (Diagnosis)

. Cancer.net. Available at . November 2015; Accessed: May 26, 2018. Raue F, Frank-Raue K. Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) . 2009 Jan-Mar. 8(1):23-8. . . Moley JF, Skinner M, Gillanders WE, Lairmore TC, Rowland KJ, Traugott AL, et al. Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine Neoplasia Type 2. Ann Surg . 2015 Oct. 262 (4):641-6. . Kluijfhout WP, van (...) RF, Levy ML, Donovan DT, et al. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med . 1989 Nov 15. 111(10):802-6. . Alegría-Landa V, Jo-Velasco M, Robledo M, Requena L. Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. JAMA Dermatol . 2017 Dec 1. 153 (12):1298-1301. . Ilias I, Pacak K. Diagnosis, localization and treatment of pheochromocytoma in MEN 2 syndrome. Endocr Regul . 2009 Apr. 43(2):89-93

2014 eMedicine.com

131. Multiple Endocrine Neoplasia, Type 2 (Overview)

. Cancer.net. Available at . November 2015; Accessed: May 26, 2018. Raue F, Frank-Raue K. Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) . 2009 Jan-Mar. 8(1):23-8. . . Moley JF, Skinner M, Gillanders WE, Lairmore TC, Rowland KJ, Traugott AL, et al. Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine Neoplasia Type 2. Ann Surg . 2015 Oct. 262 (4):641-6. . Kluijfhout WP, van (...) RF, Levy ML, Donovan DT, et al. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med . 1989 Nov 15. 111(10):802-6. . Alegría-Landa V, Jo-Velasco M, Robledo M, Requena L. Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. JAMA Dermatol . 2017 Dec 1. 153 (12):1298-1301. . Ilias I, Pacak K. Diagnosis, localization and treatment of pheochromocytoma in MEN 2 syndrome. Endocr Regul . 2009 Apr. 43(2):89-93

2014 eMedicine.com

132. Multiple Endocrine Neoplasia, Type 2 (Treatment)

Society of Clinical Oncology. Multiple Endocrine Neoplasia Type 2. Cancer.net. Available at . November 2015; Accessed: May 26, 2018. Raue F, Frank-Raue K. Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) . 2009 Jan-Mar. 8(1):23-8. . . Moley JF, Skinner M, Gillanders WE, Lairmore TC, Rowland KJ, Traugott AL, et al. Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine (...) pheochromocytoma. Eur J Endocrinol . 2016 Jan. 174 (1):R9-18. . . Gagel RF, Levy ML, Donovan DT, et al. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med . 1989 Nov 15. 111(10):802-6. . Alegría-Landa V, Jo-Velasco M, Robledo M, Requena L. Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. JAMA Dermatol . 2017 Dec 1. 153 (12):1298-1301. . Ilias I, Pacak K. Diagnosis, localization and treatment of pheochromocytoma

2014 eMedicine.com

133. Multiple Endocrine Neoplasia, Type 2 (Follow-up)

Society of Clinical Oncology. Multiple Endocrine Neoplasia Type 2. Cancer.net. Available at . November 2015; Accessed: May 26, 2018. Raue F, Frank-Raue K. Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) . 2009 Jan-Mar. 8(1):23-8. . . Moley JF, Skinner M, Gillanders WE, Lairmore TC, Rowland KJ, Traugott AL, et al. Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine (...) pheochromocytoma. Eur J Endocrinol . 2016 Jan. 174 (1):R9-18. . . Gagel RF, Levy ML, Donovan DT, et al. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med . 1989 Nov 15. 111(10):802-6. . Alegría-Landa V, Jo-Velasco M, Robledo M, Requena L. Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. JAMA Dermatol . 2017 Dec 1. 153 (12):1298-1301. . Ilias I, Pacak K. Diagnosis, localization and treatment of pheochromocytoma

2014 eMedicine.com

134. Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 (PubMed)

Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 Surgical approaches to pancreatic endocrine tumors associated with multiple endocrine neoplasia type 1 may differ greatly from those applied to sporadic pancreatic endocrine tumors. Presurgical diagnosis of multiple endocrine neoplasia type 1 is therefore crucial to plan a proper intervention. Of note, hyperparathyroidism/multiple endocrine neoplasia type 1 should be surgically treated before pancreatic (...) endocrine tumors/multiple endocrine neoplasia type 1 resection, apart from insulinoma. Non-functioning pancreatic endocrine tumors/multiple endocrine neoplasia type 1 >1 cm have a high risk of malignancy and should be treated by a pancreatic resection associated with lymphadenectomy. The vast majority of patients with gastrinoma/multiple endocrine neoplasia type 1 present with tumor lesions at the duodenum, so the surgery of choice is subtotal or total pancreatoduodenectomy followed by regional

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2012 Clinics

135. Predicting the risk of Multiple Endocrine Neoplasia type 1 (MEN1) for patients with commonly occurring endocrine tumors. (PubMed)

Predicting the risk of Multiple Endocrine Neoplasia type 1 (MEN1) for patients with commonly occurring endocrine tumors. Endocrine diseases that can be part of the rare inheritable syndrome multiple endocrine neoplasia type 1 (MEN1) commonly occur in the general population. Patients at risk for MEN1, and consequently their families, must be identified to prevent morbidity through periodic screening for the detection and treatment of manifestations in an early stage. The aim of the study (...) was to develop a model for predicting MEN1 in individual patients with sporadically occurring endocrine tumors.Cross-sectional study.In a nationwide study in The Netherlands, patients with sporadically occurring endocrine tumors in whom the referring physician suspected the MEN1 syndrome were identified between 1998 and 2011 (n=365). Logistic regression analysis with internal validation using bootstrapping and external validation with a cohort from Sweden was used.A MEN1 mutation was found in 15.9% of 365

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2012 European Journal of Endocrinology

136. Penetrance of functioning and non-functioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life. (PubMed)

Penetrance of functioning and non-functioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life. Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and insulinomas in young MEN1 patients. A potential positive correlation between tumor size and malignancy (2-3 cm, 18%; >3 cm, 43%) has greatly influenced the management of MEN1 adults with NF-PETs.The (...) of the 11 (54%) screened patients aged 15-20 years who underwent an EUS had NF-PETs. Potential false-positive EUS results were excluded based on EUS-guided biopsy results, the reproducibility of the NF-PET findings, or the observation of increased tumor size during follow-up. Distal pancreatectomy and the nodule enucleation of pancreatic head tumors were conducted on three patients with large tumors (>2.0 cm; T2N0M0) that were classified as grade 1 neuroendocrine tumors (Ki-67<2%).Our data demonstrated

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2013 Journal of Clinical Endocrinology and Metabolism

137. Low Accuracy of Tumor Markers for Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients. (PubMed)

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

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2013 Journal of Clinical Endocrinology and Metabolism

138. Shortness: an unknown phenotype of multiple endocrine neoplasia type 1. (PubMed)

Shortness: an unknown phenotype of multiple endocrine neoplasia type 1. An observation of shortness among the female participants of a regular screening program in multiple endocrine neoplasia type 1 (MEN1) patients has raised the question as to whether shortness represents a phenotype characteristic of the disease.The body height (cm) of genetically confirmed MEN1 patients at the time of diagnosis was compared with the body height of their unaffected relatives (parents, siblings, and children

2013 European Journal of Endocrinology

140. Utility of Intraoperative Parathyroid Hormone Monitoring in Patients with Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism Undergoing Initial Parathyroidectomy. (PubMed)

Utility of Intraoperative Parathyroid Hormone Monitoring in Patients with Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism Undergoing Initial Parathyroidectomy. Intraoperative parathyroid hormone monitoring (IOPTH) is a widely used adjunct for primary hyperparathyroidism (pHPT). However, the benefit of IOPTH in familial pHPT, such as in multiple endocrine neoplasia type I (MEN1), remains unclear.We performed a retrospective analysis of 52 patients with MEN1-associated

2013 World Journal of Surgery

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