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Multiple Endocrine Neoplasia Type 1

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41. Impact of "Tailored" Parathyroidectomy for Treatment of Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1. (PubMed)

Impact of "Tailored" Parathyroidectomy for Treatment of Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1. Whether total parathyroidectomy (TPTX) or subtotal parathyroidectomy (SPTX) should be performed for primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia type 1 (MEN1) is controversial. At our institution, the parathyroidectomy strategy is based on the number of enlarged intraoperative parathyroid glands. We retrospectively analyzed (...) rate based on Kaplan-Meier analysis for each type of surgical procedure.Forty-five patients were analyzed. The overall 5- and 10-year DFS was 91.7 and 55.8%, respectively. The 5- and 10-year DFS in each subgroup was 100.0 and 85.7% in the TPTX group, 89.4 and 57.3% in the SPTX group, and 91.6 and 57.3% in the LPTX group, respectively. The postoperative calcium replacement rate at 1 and 12 months was 91.7 and 58.3% in the TPTX group, 21.1 and 7.0% in the SPTX group, and 30.0 and 0.0% in the LPTX

2017 World Journal of Surgery

42. Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. (PubMed)

Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. Radiological tumor size of non-functioning pancreatic neuroendocrine neoplasms (Nf-pNENs) associated with multiple endocrine neoplasia type 1 (MEN1) is a crucial parameter to indicate surgery. The aim of this study was to compare radiological size (RS) and pathologic size (PS) of MEN1 associated with pNENs.Prospectively collected data of MEN1 patients who

2017 World Journal of Surgery

43. Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing. (PubMed)

Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing. Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be followed by somatic loss of the remaining normal copy or somatic mutations (...) in the MEN1 gene (second hit). Whole-exome sequencing has been successfully used to elucidate the mutations associated with the different types of tumors.We performed whole-exome sequencing (WES) on three parathyroid tumors, one pancreatic insulinoma, and a blood sample taken from the same patient with MEN1 to study tumor heterogeneity in MEN1 originating from different tumors. We identified a novel frame-shift deletion (c.1382_1383delAG, p.E461GfsX69) in the MEN1 gene using WES, which was confirmed

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2017 BMC Medical Genetics

44. Multiple endocrine neoplasia type 2 (MEN2)

Multiple endocrine neoplasia type 2 (MEN2) Multiple endocrine neoplasia type 2 (MEN2) Multiple endocrine neoplasia type 2 (MEN2) Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Multiple endocrine neoplasia type 2 (MEN2) Lansdale: HAYES, Inc.. Genetic Testing Publication. 2012 Authors' conclusions Multiple endocrine neoplasia type 2 (MEN2), which has an estimated (...) for pheochromocytoma and hyperparathyroidism, and treatment of these conditions when diagnosed. Significant genotype-phenotype correlations have been established in MEN2 patients, which has allowed for genotype-based recommendations regarding the timing of prophylactic thyroidectomy in carriers of common RET gene variants. Final publication URL The report may be purchased from: Indexing Status Subject indexing assigned by CRD MeSH Humans; Multiple Endocrine Neoplasia Type 2a Language Published English Country

2013 Health Technology Assessment (HTA) Database.

45. Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. (PubMed)

Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. In patients with multiple endocrine neoplasia type 2 (MEN2) syndrome, genetic testing offers early diagnosis, stratifies the risk of developing medullary thyroid cancer (MTC) and informs the timing of thyroidectomy. The efficacy of treatment, which depends on timely and safe surgery, is not well established.This was a retrospective review of diagnostic and clinicopathological outcomes of prophylactic thyroidectomy (...) on pathology correlated with late genetic testing. Twenty-five children had lymphadenectomy; these patients had more parathyroid glands excised (mean difference 0·61, 95 per cent c.i. 0·24 to 0·98; P = 0·001), and were more likely to have hypocalcaemia requiring medication (relative risk (RR) 3·12, 95 per cent c.i. 1·54 to 6·32; P = 0·002) and permanent hypoparathyroidism (RR 3·24, 1·29 to 8·11; P = 0·010) compared with those who underwent total thyroidectomy alone. Age did not influence the development

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2018 British Journal of Surgery

46. Non-mammalian models of multiple endocrine neoplasia type 2. (PubMed)

Non-mammalian models of multiple endocrine neoplasia type 2. Twenty-five years ago, RET was identified as the primary driver of multiple endocrine neoplasia type 2 (MEN2) syndrome. MEN2 is characterized by several transformation events including pheochromocytoma, parathyroid adenoma and, especially penetrant, medullary thyroid carcinoma (MTC). Overall, MTC is a rare but aggressive type of thyroid cancer for which no effective treatment currently exists. Surgery, radiation, radioisotope

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2018 Endocrine-Related Cancer

47. Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. (PubMed)

Preimplantation genetic diagnosis of multiple endocrine neoplasia type 2A using informative markers identified by targeted sequencing. The revised guidelines for the management of medullary thyroid carcinoma recommend that genetic counseling regarding reproductive options, including preimplantation genetic diagnosis (PGD), be considered for all RET mutation carriers of reproductive age to avoid the transmission of multiple endocrine neoplasia type 2 (MEN2). However, the high complexity and cost (...) of PGD have hindered its widespread use. Thus, it is necessary to establish a simple and relatively inexpensive method to facilitate the PGD of MEN2.A customized Nimblegen EZ sequence capture array was designed to capture the targeted regions, including the RET gene, and 1 Mb range on each side of the RET gene. Targeted, capture-based next-generation sequencing of three members of one family with MEN2A (the couple and the paternal father) was conducted to identify the informative markers

2018 Thyroid

48. Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years. (PubMed)

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years. We describe the presenting symptoms and signs of multiple endocrine neoplasia type 2B in a cohort of children. Improved awareness of the early nonendocrine signs of multiple endocrine neoplasia type 2B could lead to earlier diagnosis before the development of medullary thyroid cancer and possibly its metastasis.Copyright © 2018. Published by Elsevier Inc.

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2018 Journal of Pediatrics

49. Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. (PubMed)

Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B (...) ) syndromes. The common and necessary nexus that defines these 2 phenotypes is the presence of medullary thyroid carcinoma (MTC). The familial MTC type of MEN 2 syndrome was included within the spectrum of MEN 2A syndrome. Cutaneous manifestations of MEN 2A syndrome include macular amyloidosis, whereas MEN 2B syndrome is traditionally linked to multiple mucosal neuromas.To describe a family with cutaneous manifestations not previously described in patients with MEN 2A syndrome and to discuss

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2017 JAMA dermatology (Chicago, Ill.)

50. Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 1 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 (...) Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 1 Aka: Multiple Endocrine Neoplasia Type 1 , Multiple Endocrine Neoplasia Type I , Werner's Syndrome , MEN I From Related Chapters II. Associated Conditions Familial (occurs in >80% of MEN I cases) Pancreatic islet tumors Zollinger-Ellison Syndrome Hypergastrinemia III. Prevention: Family Members of MEN I patients Consider annual lab screening starting at age 8 years annually Consider PTH Level annually or if is abnormal IV. References Images

2018 FP Notebook

51. Pregnancy in multiple endocrine neoplasia type 1 equals multiple complications (PubMed)

Pregnancy in multiple endocrine neoplasia type 1 equals multiple complications Multiple endocrine neoplasia type 1 (MEN 1) is a rare inherited disorder caused by mutations in the tumour suppressor gene MEN 1. It is characterised by a predisposition towards the development of parathyroid, anterior pituitary and entero-pancreatic tumours. Clinically, MEN 1 is defined following development of two out of these three tumours. There have been no published cases of the management of MEN 1 in pregnancy (...) . We report the first case of a 31-year-old primigravida with a confirmed diagnosis of MEN 1 prior to conception. Due to the rare nature of MEN 1, there are no guidelines on how such women should be managed. The main issues were to assess and manage potential complications, such as hypercalcaemia, diabetes mellitus and the symptoms from a pituitary tumour as well the issues around a gastrinoma and monitor fetal well-being. A Caesarean section was performed at 35 weeks gestation for a growth

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2014 Obstetric medicine

52. Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese. (PubMed)

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese. Multiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT.A total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent

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2016 PLoS ONE

53. Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B (PubMed)

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.

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2017 Journal of clinical and translational endocrinology case reports

54. A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11 (PubMed)

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

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2017 Oncology letters

55. Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families. (PubMed)

Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families. Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population.All members (...) of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics. Exome sequencing was performed on the 3 probands, and specific mutation in RET was further screened on each of the family members.Different mutations in the RET gene were identified: C634S in Family 1, C611Y in Family 2, and C634Y in Family 3. Proband 1 mainly showed pheochromocytoma with MTC, both medullary thyroid carcinoma and pheochromocytoma were seen in proband 2

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2017 Medicine

56. A laparoscopic revelation: incidental nodule in a patient with bilateral phaeochromocytoma in multiple endocrine neoplasia Type 2A (PubMed)

A laparoscopic revelation: incidental nodule in a patient with bilateral phaeochromocytoma in multiple endocrine neoplasia Type 2A 29242944 2018 10 24 2018 11 13 0037-5675 58 12 2017 12 Singapore medical journal Singapore Med J A laparoscopic revelation: incidental nodule in a patient with bilateral phaeochromocytoma in multiple endocrine neoplasia Type 2A. 721-722 10.11622/smedj.2017109 Sonawane Vikram V Department of Endocrinology, Khoo Teck Puat Hospital, Singapore. Singaporewalla Reyaz R (...) Catecholamines urine Female Humans Laparoscopy methods Metanephrine urine Multiple Endocrine Neoplasia Type 2a diagnostic imaging surgery Normetanephrine urine Pheochromocytoma diagnostic imaging surgery Tomography, X-Ray Computed 2017 12 16 6 0 2017 12 16 6 0 2018 10 26 6 0 ppublish 29242944 j58/12/721 10.11622/smedj.2017109 PMC5917060 Genet Med. 2011 Sep;13(9):755-64 21552134 Lancet Oncol. 2014 May;15(6):648-55 24745698 J Urol. 1979 Jun;121(6):805-7 458956 Endocr J. 1998 Jun;45(3):329-34 9790266

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2017 Singapore medical journal

57. Advances in risk-oriented surgery for multiple endocrine neoplasia type 2. (PubMed)

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2. Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia type 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating far-reaching

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2017 Endocrine-Related Cancer

58. Clinical features of a family with Multiple Endocrine Neoplasia Type 2A caused by the D631Y mutation. (PubMed)

Clinical features of a family with Multiple Endocrine Neoplasia Type 2A caused by the D631Y mutation. We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the D631Y RET mutation resulting in an atypical phenotype. The index case was a 24-year-old man with history of recurrent anaplastic ependymoma incidentally found to have the D631Y RET mutation. At first assessment, four family members had evidence of large pheochromocytomas. One patient was found to have

2017 Thyroid

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

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 (...) for role, cognitive, and emotional functioning were noticed in 33 patients who were well-informed about their disease (p < 0.05). Fighting spirit was more frequently found in patients with multiple surgical procedures (p = 0.019) and controlled chronic adrenal insufficiency (p = 0.024). Patients with MEN2-related stress-inducing factors had lower scores for fighting spirit and cognitive functioning and higher scores for insomnia and dyspnea (p < 0.05). Eleven patients required sustained

2017 Thyroid

60. Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B diagnosed before and in the new Millennium. (PubMed)

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 (...) with wide ranging aggressiveness, but the outcome was generally better after 2000 than before 2000.Copyright © 2017 Endocrine Society

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2017 Journal of Clinical Endocrinology and Metabolism

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