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Multiple Endocrine Neoplasia Type 1

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

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

62. Non-mammalian models of multiple endocrine neoplasia type 2. Full Text available with Trip Pro

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 (...) of the whole animal, accounting for the complex interplay between tumor and normal cells in controlling disease progression as well as response to therapy. With convenient access to whole genome sequencing data from expanded thyroid cancer patient cohorts, non-mammalian models will become more complex, sophisticated and continue to complement future mammalian studies. In this review, we explore the contributions of non-mammalian models to our understanding of thyroid cancer including MTC, with a focus

2018 Endocrine-Related Cancer

63. Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. Full Text available with Trip Pro

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

2018 British Journal of Surgery

64. Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years. Full Text available with Trip Pro

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.

2018 Journal of Pediatrics

65. Rucaparib camsylate - Ovarian Neoplasms

types: epithelial cells, stromal cells, and germ cells. In developed countries, more than 90% of malignant ovarian tumours are epithelial in origin, 5%–6% of tumours constitute sex cord-stromal tumours (e.g., granulosa cell tumours, thecomas, etc.), and 2%–3% are germ cell tumours (e.g., teratomas, dysgerminomas, etc.). Epithelial OC reflects a heterogeneous disease with histotypes that differ in their cellular origin, pathogenesis, molecular alterations, gene expression, and prognosis. Malignant OC (...) Plan SAE serious adverse event SAG Scientific advisory group sBRCA somatic mutations in BRCA (BRCA1 or BRCA2) SD stable disease SmPC Summary of Product Characteristics SOC(s) System Organ Class(es) SSB single-strand break StD standard deviation T 1/2 half-life tBRCAmut tumour tissue alteration in BRCA1/2, including gBRCA and sBRCA mutations TEAE(s) treatment-emergent adverse event(s) T max time from dosing at which C max occurred TOPO topotecan TTP time to progression ULN upper limit of normal UK

2018 European Medicines Agency - EPARs

66. 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.

67. Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. Full Text available with Trip Pro

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

2017 JAMA dermatology (Chicago, Ill.)

68. Multiple Endocrine Neoplasia Type 1

(GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13). Concepts Neoplastic Process ( T191 ) MSH ICD9 258.01 ICD10 SnomedCT 190566000 , 30664006 English MEA I , MEN I , Wermer Syndrome , MEA 1 , MEN 1 , MEN1 , Multiple Endocrine Neoplasia Type 1 , Multiple Endocrine Neoplasia Type I , Multiple Endocrine Neoplasms Type 1 , Neoplasia, Multiple Endocrine Type 1 , Neoplasms, Multiple Endocrine Type 1 , Neoplasms, Multiple Endocrine Type I , MEN syndrome type 1 , Multiple endoc neoplas type 1 , MEA (...) 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

2018 FP Notebook

69. Brain tumours (primary) and brain metastases in adults

metastases, take into account: extracranial disease leptomeningeal disease location of metastases resection cavity size the number and volume of metastases the person's preference (based on a discussion of the factors listed in tables 8 and 9) their age their performance status the primary tumour site, type, and molecular profile. 1.7.2 Consider systemic anti-cancer therapy for people who have brain metastases likely to respond effectively, for example, germ cell tumours or small-cell lung cancer. 1.7.3 (...) -grade glioma. 1.2.30 For guidance on using temozolomide as an option for treating recurrent high- grade glioma, see the NICE technology appraisal guidance on temozolomide for the treatment of recurrent malignant glioma (brain cancer). 1.2.31 Consider best supportive care alone for high-grade glioma if other treatments are not likely to be of benefit, or if the person would prefer this. Refer to the NICE guidance on improving supportive and palliative care for adults with Brain tumours (primary

2018 National Institute for Health and Clinical Excellence - Clinical Guidelines

70. Pregnancy in multiple endocrine neoplasia type 1 equals multiple complications Full Text available with Trip Pro

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

2014 Obstetric medicine

71. Exposure to endocrine disrupters and malignant neoplasms risk: a systematic review

Exposure to endocrine disrupters and malignant neoplasms risk: a systematic review Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email salutation (e.g. "Dr Smith" or "Joanne") for correspondence: Organisation web address: Timing (...) of the eligible articles for final inclusion. In each phase, 2 observers will independently assess each article. Discrepancies will be resolved through discussion, or by consulting a third investigator. ">Procedure for study selection Example : Title-abstract screening: 1. Not an original full research paper (e.g. review, editorial) 2. Not an in vivo animal study 3. No metastases/ only primary tumor 4. No control group 5. Combination therapy or contamination 6. Not about analgesics used in the clinic Full

2016 PROSPERO

72. ESMO–ESGO Consensus Conference Recommendations on Ovarian Cancer: Pathology and Molecular Biology, Early and Advanced Stages, Borderline Tumours and Recurrent Disease

patients present- ing with advanced stage tumours, as de?ned by the spread of the disease outside the pelvis [International Federation of Obstetrics and Gynaecology (FIGO) stage III and IV]. The estimated number of new ovarian cancer cases in Europe in 2012 was 65 538 with 42 704 deaths [1]. More than two-thirds of patients are diagnosed at an advanced stage. More than 90% of malignant ovarian tumours are of epithelial origin, designated epithelial ovarian cancer (EOC). The most common and most lethal (...) ) no, 2.5% (1) abstain (40 voters) Recommendation4.6: pathological CRS after NACT may pro- vide an objective and reproducible prognostic measure of out- come in HGSC. Level of evidence: IV Strength of recommendation: A Consensus: 82.5% (33) yes, 12.5% (5) no, 5% (2) abstain (40 voters) 5. What are the morphological criteria useful in separating borderline from invasive ovarian neoplasia? Previously, it was a widely held view that the distinction between a borderline ovarian tumour (BOT) and a carcinoma

2019 European Society for Medical Oncology

73. Multiple endocrine neoplasia phenocopy revealed as a co‐occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3 Full Text available with Trip Pro

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

2016 Clinical Case Reports

74. A Nationwide study of multiple endocrine neoplasia type 2A in Norway. Predictive avd prognostic factors for the clinical course of medullary thyroid carcinoma. Full Text available with Trip Pro

A Nationwide study of multiple endocrine neoplasia type 2A in Norway. Predictive avd prognostic factors for the clinical course of medullary thyroid carcinoma. Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome caused by activating germline mutations in the RET (REarranged during Transfection) proto-oncogene. MEN 2A has a strong (>95%) and age-dependent (5-25 years) clinical penetrance of medullary thyroid carcinoma (MTC). Several major studies have analyzed (...) in Norway since 1974. Data were collected by reviewing patient files. The variables analyzed were genotype, phenotype, preoperative basal calcitonin, age at thyroid surgery, central lymph node dissection and nodal status at primary surgery, number of surgical procedures, and biochemical cure. Of the 65 patients, 60 had undergone thyroid surgery. The median follow-up period was 9.9 years. The patients were divided into pre-RET-and RET-era, which included patients who had thyroid surgery before January 1

2016 Thyroid

75. Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese. Full Text available with Trip Pro

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

2016 PLoS ONE

76. Pancreatic neuroendocrine tumor with complete replacement of the pancreas by serous cystic neoplasms in a patient with von Hippel-Lindau disease: a case report Full Text available with Trip Pro

Pancreatic neuroendocrine tumor with complete replacement of the pancreas by serous cystic neoplasms in a patient with von Hippel-Lindau disease: a case report von Hippel-Lindau disease is a dominantly inherited multi-system syndrome with neoplastic hallmarks. Pancreatic lesions associated with von Hippel-Lindau include serous cystic neoplasms, simple cysts, and neuroendocrine tumors. The combination of pancreatic neuroendocrine tumors and serous cystic neoplasms is relatively rare (...) , and the surgical treatment of these lesions must consider both preservation of pancreatic function and oncological clearance. We report a patient with von Hippel-Lindau disease successfully treated with pancreas-sparing resection of a pancreatic neuroendocrine tumor where the pancreas had been completely replaced by serous cystic neoplasms, in which pancreatic function was preserved.A 39-year-old female with von Hippel-Lindau disease was referred to our institution for treatment of a pancreatic neuroendocrine

2017 Surgical Case Reports

77. Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families. Full Text available with Trip Pro

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

2017 Medicine

78. A laparoscopic revelation: incidental nodule in a patient with bilateral phaeochromocytoma in multiple endocrine neoplasia Type 2A Full Text available with Trip Pro

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

2017 Singapore medical journal

79. Advances in risk-oriented surgery for multiple endocrine neoplasia type 2. Full Text available with Trip Pro

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 (...) surgical strategies like bilateral total adrenalectomy and 4-gland parathyroidectomy in MEN2. The insight into the natural course of the disease gleaned over the past 25 years caused a paradigm shift in MEN2: from the removal of target organs at the expense of greater operative morbidity to close biochemical surveillance and targeted resection of adrenal tumors and hyperplastic parathyroid glands. The lead time provided by early identification of asymptomatic MEN2 carriers under biochemical

2017 Endocrine-Related Cancer

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

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 (...) micromedullary thyroid cancer at 79 years of age. None of the patients had primary hyperparathyroidism. Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas. Medullary thyroid cancer is a less common part of the syndrome when compared with other RET mutations.

2017 Thyroid

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