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Multiple Endocrine Neoplasia Type 1

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101. Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1 (PubMed)

Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1 Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one (...) untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above.A 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma) 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending

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2014 Endocrinology and Metabolism

102. A randomized, prospective trial of operative treatments for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. (PubMed)

A randomized, prospective trial of operative treatments for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Hyperparathyroidism (HPT) in multiple endocrine neoplasia (MEN) type 1 is associated with multiglandular parathyroid disease. Previous retrospective studies comparing subtotal parathyroidectomy (SP) and total parathyroidectomy with autotransplantation (TP/AT) have not established clearly better outcomes with either procedure.Patients were assigned randomly (...) %) overall. The rate of permanent hypoparathyroidism was 12% in the SP group (2/17) and 7% in the TP/AT group (1/15). A second operation was performed in 4 of 17 patients initially treated with SP (24%), compared with 1 of 15 patients undergoing TP/AT (7%; P = .34).This randomized trial of SP and TP/AT in patients with MEN 1 failed to show any difference in outcomes when comparing results of SP versus TP/AT. Both procedures are associated with acceptable results, but SP may have advantages

2014 Surgery

103. Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1 (PubMed)

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1 Multiple endocrine neoplasia type 1 (MEN1) is a familial syndrome characterized by the parathyroid, pancreas and pituitary tumors. Parathyroid tumors are the most common clinical manifestations, occurring in more than 90% of MEN1 patients. Heterozygous germline mutations of the MENIN gene underlie the tumorigenesis in MEN1 and epigenetic alterations along with germline mutations may contribute

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2014 Endocrinology and Metabolism

104. A new association – multiple endocrine neoplasia type 1 and malignant peripheral nerve sheath tumor (PubMed)

A new association – multiple endocrine neoplasia type 1 and malignant peripheral nerve sheath tumor We report a patient with multiple endocrine neoplasia type 1 (MEN-1) and an aggressive malignant peripheral nerve sheath tumor (MPNST) arising from a ganglioneuroma of the adrenal gland. Patients with MEN-1 require careful consideration of other tumor associations, including MPNST, as it can portend a poor prognosis. MEN-1 and MPNST have not been reported. We report a patient with multiple (...) endocrine neoplasia type 1 (MEN-1) and an aggressive malignant peripheral nerve sheath tumor (MPNST) arising from a ganglioneuroma of the adrenal gland. Patients with MEN-1 require careful consideration of other tumor associations, including MPNST, as it can portend a poor prognosis. MEN-1 and MPNST have not been reported.

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2014 Clinical Case Reports

105. Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies (PubMed)

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.

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2014 International journal of endocrine oncology

106. Safety and Efficacy of Percutaneous Parathyroid Ethanol Ablation in Patients with Recurrent Primary Hyperparathyroidism and Multiple Endocrine Neoplasia Type 1. (PubMed)

Safety and Efficacy of Percutaneous Parathyroid Ethanol Ablation in Patients with Recurrent Primary Hyperparathyroidism and Multiple Endocrine Neoplasia Type 1. The most common feature of multiple endocrine neoplasia type 1 (MEN1) is primary hyperparathyroidism (PHP), which occurs in approximately 95% of MEN1 patients. Approximately 40-60% of patients with MEN1 develop recurrent hypercalcemia within 10-12 years after their initial parathyroid surgery and the successful management of recurrent

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2014 Journal of Clinical Endocrinology and Metabolism

107. Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1. (PubMed)

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

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2014 Endocrine-Related Cancer

108. Preoperative multiple endocrine neoplasia type 1 diagnosis improves the surgical outcomes of pediatric patients with primary hyperparathyroidism. (PubMed)

Preoperative multiple endocrine neoplasia type 1 diagnosis improves the surgical outcomes of pediatric patients with primary hyperparathyroidism. Primary hyperparathyroidism (PHPT) is uncommon in children. The surgical management of PHPT in children has evolved over the past two decades.A retrospective study of patients who underwent parathyroidectomy for PHPT diagnosed at age < 18 years and managed at a tertiary referral center for endocrine and familial disorders.Thirty-eight patients met (...) eligibility criteria (1981-2012). Median age at PHPT diagnosis was 15 years. Two-thirds of patients were symptomatic (68%, n=26), most commonly from nephrolithiasis. Twenty-six (68%) patients underwent a standard cervical exploration while 32% underwent a focused unilateral parathyroidectomy. Multiple endocrine neoplasia type 1 (MEN1) was diagnosed preoperatively in 22/26 patients. Patients with a preoperative diagnosis of MEN1 were more likely to undergo a complete initial operation (≥ 3 gland

2014 Journal of Pediatric Surgery

109. Distribution of RET mutations in multiple endocrine neoplasia 2 in Denmark 1994-2014: a nationwide study. (PubMed)

Distribution of RET mutations in multiple endocrine neoplasia 2 in Denmark 1994-2014: a nationwide study. Germline mutations of the REarranged during Transfection (RET) proto-oncogene cause multiple endocrine neoplasia 2 (MEN2). It is unclear whether the distribution of RET mutations varies among populations. The first nationwide study of the distribution of RET mutations was conducted, and the results were compared to those of other populations.This retrospective cohort study included 1583 (...) patients who underwent RET gene testing in one of three centers covering all of Denmark between September 1994 and December 2014. Primary testing method was Sanger sequencing, which included exons 8-11 and 13-16. Mutations were defined according to the ARUP database July 1, 2016.RET mutations were identified in 163 patients from 36 apparently unrelated families. Among the 36 families 13 (36.1%) carried mutations in codon 611, four (11.1%) in codon 618, three (8.3%) in codon 620, one (2.8%) in codon 631

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2016 Thyroid

110. Multiple Endocrine Neoplasia Type 1 (Diagnosis)

Multiple Endocrine Neoplasia Type 1 (Diagnosis) Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1): Practice Essentials, Background, Pathophysiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA5MzcyMy1vdmVydmlldw== processing > Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Updated: Sep 14, 2018 Author: Thomas N Darling, MD, PhD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Overview Practice Essentials Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial tumor syndrome (also termed ) characterized by tumors of the parathyroid glands

2014 eMedicine.com

111. Multiple Endocrine Neoplasia Type 1 (Overview)

Multiple Endocrine Neoplasia Type 1 (Overview) Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1): Practice Essentials, Background, Pathophysiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA5MzcyMy1vdmVydmlldw== processing > Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Updated: Sep 14, 2018 Author: Thomas N Darling, MD, PhD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Overview Practice Essentials Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial tumor syndrome (also termed ) characterized by tumors of the parathyroid glands

2014 eMedicine.com

112. Multiple Endocrine Neoplasia Type 1 (Treatment)

Multiple Endocrine Neoplasia Type 1 (Treatment) Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Treatment & Management: Medical Care, Surgical Care, Consultations Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA5MzcyMy10cmVhdG1lbnQ= processing > Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Treatment & Management Updated: Sep 14, 2018 Author: Thomas N Darling, MD, PhD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Treatment Medical Care Clinical practice guidelines have been developed based on a review of peer-review publications for managing MEN1 [ ] . Related clinical guideline

2014 eMedicine.com

113. Multiple Endocrine Neoplasia Type 1 (Follow-up)

Multiple Endocrine Neoplasia Type 1 (Follow-up) Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Follow-up: Complications, Patient Education Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA5MzcyMy1mb2xsb3d1cA== processing > Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Follow-up Updated: Sep 14, 2018 Author: Thomas N Darling, MD, PhD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Follow-up Complications Endocrine tumors in MEN1 Tumors may hypersecrete hormone, causing hypercalcemia and recurrent nephrolithiasis (hyperparathyroidism), Zollinger-Ellison syndrome

2014 eMedicine.com

114. Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report (PubMed)

Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report Composite pheochromocytoma/paragangliomas are very rare tumors composed of ordinary pheochromocytoma paragangliomas associated with neurogenic tumors. Several hereditary susceptibility disorders are known to be associated with pheochromocytoma/paragangliomas such as multiple endocrine neoplasia type 2 (2A or B). To the best of our knowledge, only four cases (...) of composite pheochromocytoma/paragangliomas associated with multiple endocrine neoplasia type 2 have been reported.A 40-year-old Arabic woman presented with headache, palpitations, paroxysmal hypertension, and weight loss, which she had had for the last 3 years. She had a familial history of diabetes and multiple endocrine neoplasia type 2. A radiological examination revealed thyroid lesions and bilateral adrenal medulla tumors. Our patient had undergone bilateral adrenalectomy, total thyroidectomy

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2017 Journal of medical case reports

116. Primary hyperparathyroidism in young people. When should we perform genetic testing for multiple endocrine neoplasia 1 (MEN-1)? (PubMed)

was incidentally found also to have hypercalcemia and elevated PTH (pHPT). Exploratory neck surgery showed multiglandular parathyroid affection; she turned out to have MEN-1, but she was diagnosed 7 years after her debut of pHPT.The aim was to search literature on indications for performing mutational analysis in young patients with pHPT and no family history of MEN-1. PubMed was searched for English language articles, and words used were: MEN1 OR MEN-1 OR MEN type 1 OR multiple endocrine neoplasia 1 (...) OR multiple endocrine neoplasia type 1 AND Mutational analysis OR genetic testing OR testing OR Hyperparathyroidism, primary [majr]. A total of 625 abstracts were reviewed.Whether to perform screening of patients with pHPT under the age of 30, 35, or 40 years is controversial. According to international guidelines from 2001, genetic testing is indicated only in patients with pHPT below the age of 30 years. However, in updated guidelines from 2012, it is suggested to perform genetic testing in patients

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2014 Journal of Clinical Endocrinology and Metabolism

117. 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. (PubMed)

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 (...) and prognostic factors from a prospective long-term National Institutes of Health (NIH) study of 106 MEN1 patients with pancreatic endocrine tumors with Zollinger-Ellison syndrome (MEN1/ZES patients) and compared our results to those from the pooled literature data of 227 patients with MEN1 with pancreatic endocrine tumors (MEN1/PET patients) reported in case reports or small series, and to 1386 patients reported in large MEN1 literature series. In the NIH series over a mean follow-up of 24.5 years, 24 (23

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2013 Medicine

118. Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine Neoplasia Type 2. (PubMed)

Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine Neoplasia Type 2. Patients with multiple endocrine neoplasia type 2 (MEN2) have mutations in the RET protooncogene and virtually all of them will develop medullary thyroid carcinoma. Family members identified by genetic testing are candidates for preventive thyroidectomy. Management of the parathyroids during thyroidectomy is controversial. Some experts advocate total parathyroidectomy (...) (group B). Individual parathyroids were autotransplanted only if they appeared nonviable or could not be preserved intact. Central neck dissection was done only if the serum calcitonin was greater than 40 pg/mL.Permanent hypoparathyroidism occurred in 3 (6%) of 50 patients in group A, compared with 1 (1%) of 102 patients in group B (P = 0.1). After total thyroidectomy, no patient in either group developed permanent recurrent laryngeal nerve injury or hyperparathyroidism. Immediate postoperative serum

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2015 Annals of Surgery

119. A rare presentation of multiple endocrine neoplasia (MEN) type 2A syndrome (PubMed)

A rare presentation of multiple endocrine neoplasia (MEN) type 2A syndrome Peptic ulcer disease may be a manifestation of symptomatic primary hyperparathyroidism. A case of an intractable complicated peptic ulcer disease secondary to hypercalcaemia from multiple endocrine neoplasia type 2A is presented. Hypercalcaemia should always be excluded as a cause of recurrent, or complicated peptic ulcer disease.

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2015 Annals of Medicine and Surgery

120. 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

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