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Multiple Endocrine Neoplasia Type 1

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61. Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1. (PubMed)

Unilateral Clearance for Primary Hyperparathyroidism in Selected Patients with Multiple Endocrine Neoplasia Type 1. Primary hyperparathyroidism is the most common manifestation of multiple endocrine neoplasia type 1 (MEN1). Guidelines advocate subtotal parathyroidectomy (STP) or total parathyroidectomy with autotransplantation due to high prevalence of multiglandular disease; however, both are associated with a significant risk of permanent hypoparathyroidism. More accurate imaging and use

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2016 World Journal of Surgery

62. Multiple endocrine neoplasia type 1 with anterior mediastinal parathyroid adenoma: successful localization using Tc-99m sestamibi SPECT/CT (PubMed)

Multiple endocrine neoplasia type 1 with anterior mediastinal parathyroid adenoma: successful localization using Tc-99m sestamibi SPECT/CT The most common manifestation of multiple endocrine neoplasia type 1 (MEN1) is hyperparathyroidism. Treatment of hyperparathyroidism in MEN patients is surgical removal of the parathyroid glands, however ectopic parathyroid gland is challenging for treatment. A 51-year-old female, the eldest of 3 MEN1 sisters, had hyperparathyroidism with ectopic parathyroid

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2016 Annals of surgical treatment and research

63. Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (PubMed)

Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by heterozygous germline mutations in the tumor suppressor gene MEN1, which encodes a nuclear protein, menin. MEN1 is characterized by the combined occurrence of tumors involving the pituitary gland, pancreatic islets, and parathyroid glands. Additionally, patients with MEN1 often exhibit adrenal tumors (...) . Although most MEN1-associated tumors are benign, malignant lesions arising in these endocrine organs have been reported. Additionally, malignant diseases of non-endocrine organs concomitant with MEN1 have also been reported. Here, we report a rare case of a MEN1 patient who exhibited adrenocortical carcinoma (ACC) and lung adenocarcinoma (LAC). A 53-year-old Japanese woman was diagnosed with genetically proven MEN1 that initially manifested as parathyroid, pancreatic, and adrenal tumors. During

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2016 Respiratory Medicine Case Reports

64. Utility of chromogranin A, pancreatic polypeptide, glucagon, and gastrin in the diagnosis and follow-up of pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 patients (PubMed)

Utility of chromogranin A, pancreatic polypeptide, glucagon, and gastrin in the diagnosis and follow-up of pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 patients Pancreatic neuroendocrine tumours (PNETs) are the major source of disease-specific mortality in multiple endocrine neoplasia type 1 (MEN1) patients. Chromogranin A (CgA), pancreatic polypeptide (PP), glucagon and gastrin have some diagnostic value in sporadic PNETs, but there is very little evidence (...) MEN1 cases, 55 PNETs and 58 non-PNETs met inclusion criteria. The area under the curve (AUC) for CgA, PP, glucagon and gastrin in MEN1 cases was 59·5%, 64·1%, 77·0% and 75·9%, respectively. The AUC for the combination of CgA, PP and gastrin was 59·6%. PP, but not CgA, glucagon or gastrin was significantly associated with both age and PNET functional status (P = 0·0485 and 0·0188, respectively). No markers were significantly associated with sex, PNET size, tumour number, tumour location, American

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2016 Clinical endocrinology

65. 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.

66. A Possible New Multiple Endocrine Neoplasia Mutation in a Patient with a Prototypic Multiple Endocrine Neoplasia Presentation (PubMed)

A Possible New Multiple Endocrine Neoplasia Mutation in a Patient with a Prototypic Multiple Endocrine Neoplasia Presentation Multiple endocrine neoplasia (MEN) type 1 syndrome is an uncommon inherited disorder characterized by the occurrence of tumors involving two or more endocrine glands. These tumors include pheochromocytoma, adrenal cortical and neuroendocrine tumors including (bronchopulmonary, thymic, gastric), lipomas, angiofibromas, collagenomas, and meningiomas. MEN-4 is very rare (...) and has been characterized by the occurrence of parathyroid and anterior pituitary tumors in association with tumors of the adrenals, kidneys, and reproductive organs.We report the case of a 40-year-old male without significant family history of endocrine disease who was found to have primary hyperparathyroidism, a pituitary tumor causing acromegaly, thyroid cancer, renal cell carcinoma, and pancreatic cysts. We posit that this represents a new version of MEN-4. While renal tumors (angiomyolipoma

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2016 Cardiorenal medicine

67. 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

68. 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

2017 Journal of Clinical Endocrinology and Metabolism

69. 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

70. 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

71. 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

72. 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

73. 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

74. 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

75. Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives (PubMed)

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

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2018 Biomarker insights

76. Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect (PubMed)

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

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2018 Journal of endocrinological investigation

77. Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901–2014: a nationwide study (PubMed)

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.

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2018 Clinical epidemiology

78. Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report (PubMed)

Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report Multiple endocrine neoplasia 2A (MEN2A) is characterized by the coexistence of tumors that involve two or more endocrine glands within the same patient, and is defined as the occurrence of medullary thyroid carcinoma in association with pheochromocytoma (PHEO) and parathyroid tumors or hyperparathyroidism. The pathogenesis of MEN2A is due to the mutation of a tyrosine kinase

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2016 Oncology letters

79. Recurrent hyperparathyroidism due to proliferation of autotransplanted parathyroid tissue in a multiple endocrine neoplasia type 2A patient (PubMed)

Recurrent hyperparathyroidism due to proliferation of autotransplanted parathyroid tissue in a multiple endocrine neoplasia type 2A patient About 20%-30% of all cases of multiple endocrine neoplasia type 2A (MEN 2A) is accompanied by primary hyperparathyroidism. These patients undergo parathyroidectomy and, if needed, autotransplantation. In rare cases, autotransplanted parathyroid tissues can cause hypoparathyroidism due to failure of transplantation or hyperparathyroidism due to proliferation

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2016 Annals of surgical treatment and research

80. Multiple endocrine neoplasia phenocopy revealed as a co‐occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3 (PubMed)

Multiple endocrine neoplasia phenocopy revealed as a co‐occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3 Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies and for the worry of being diagnosed with a cancer susceptibility

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2016 Clinical Case Reports

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