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Multiple Endocrine Neoplasia

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https://www.readbyqxmd.com/read/29036195/mutational-and-large-deletion-study-of-genes-implicated-in-hereditary-forms-of-primary-hyperparathyroidism-and-correlation-with-clinical-features
#1
Elena Pardi, Simona Borsari, Federica Saponaro, Fausto Bogazzi, Claudio Urbani, Stefano Mariotti, Francesca Pigliaru, Chiara Satta, Fabiana Pani, Gabriele Materazzi, Paolo Miccoli, Lorena Grantaliano, Claudio Marcocci, Filomena Cetani
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations...
2017: PloS One
https://www.readbyqxmd.com/read/29026273/detection-of-early-stage-medullary-thyroid-carcinoma-by-measuring-serum-calcitonin-using-an-electro-chemiluminescence-immuno-assay-a-case-report-of-a-young-japanese-woman-with-a-high-risk-ret-mutation
#2
Yuki Abe, Shinya Tsukano
Medullary thyroid carcinoma (MTC) in multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder caused by the mutation of the RET proto-oncogene, that shows nearly complete penetration. The American Thyroid Association guidelines recommend prophylactic thyroidectomy for patients with high-risk RET mutations. However, in Japan, ethical and medical issues may preclude prophylactic treatment in young patients. Hence, an early diagnosis of MTC is necessary to ensure a favorable outcome. Here, we report the case of a young Japanese girl with a high-risk RET mutation, diagnosed with very early stage MTC using serum calcitonin (Ctn) values measured using an electro chemiluminescence immuno-assay (ECLIA)...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29022641/-familial-isolated-pituitary-adenomas-fipa-case-report-of-four-families-and-review-of-literature
#3
Joanna Elżbieta Malicka, Joanna Świrska, Maria Kurowska, Marta Dudzińska, Jerzy S Tarach
BackgroundThe majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients' age at the moment of recognition. ObjectivesThe aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/29020875/founder-effect-of-the-ret-c611y-mutation-in-multiple-endocrine-neoplasia-2a-in-denmark-a-nationwide-study
#4
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Mette Gaustadnes, Torben Falck Ørntoft, Maria Rossing, Finn Cilius Nielsen, Anders Albrechtsen, Kim Brixen, Christian Godballe, Anja Lisbeth Frederiksen
BACKGROUND: Multiple endocrine neoplasia (MEN) 2A and 2B are caused by REarranged during Transfection (RET) germline mutations. In a recent nationwide study we reported of an unusually high prevalence (33%) of families with the C611Y mutation and hypothesized that this might be due to a founder effect. We conducted the first nationwide study of haplotypes in MEN2A families aiming to investigate the relatedness and occurrence of de novo mutations among Danish families carrying similar mutations...
October 12, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28991228/deletion-of-menin-in-craniofacial-osteogenic-cells-in-mice-elicits-development-of-mandibular-ossifying-fibroma
#5
S Lee, P Liu, R Teinturier, J Jakob, M Tschaffon, A Tasdogan, R Wittig, S Hoeller, D Baumhoer, L Frappart, S Vettorazzi, P Bertolino, C Zhang, J Tuckermann
Ossifying fibroma (OF) is a rare benign tumor of the craniofacial bones that can reach considerable and disfiguring dimensions if left untreated. Although the clinicopathological characteristics of OF are well established, the underlying etiology has remained largely unknown. Our work indicates that Men1-a tumor suppressor gene responsible of Multiple endocrine neoplasia type 1-is critical for OF formation and shows that mice with targeted disruption of Men1 in osteoblasts (Men1(Runx2Cre)) develop multifocal OF in the mandible with a 100% penetrance...
October 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28983374/positive-germline-selection-in-pedigrees-with-multiple-endocrine-neoplasia-type-2-carrying-v804m-mutation-in-the-ret-gene
#6
Leema Reddy Peddareddygari, Angela Musial Fay, Alexander L Shifrin, Raji P Grewal
BACKGROUND: Multiple endocrine neoplasia (MEN) type 2 is an autosomal dominant cancer syndrome associated with the development of thyroid cancer and tumors or hyperplasia in other endocrine organs. It is caused by mutations in the RET gene and can be phenotypically classified into MEN types 2A and 2B. MEN2B is often sporadic resulting from a spontaneous mutation, M981T. A positive paternal germline selection has been reported for this mutation. METHODS: We analyzed the V804M mutation in the RET gene which also affects the intracellular domain of the protein but results in a different phenotype, MEN2A...
December 2016: World Journal of Oncology
https://www.readbyqxmd.com/read/28979651/-high-grade-insulinoma-detected-in-a-patient-with-a-5-year-history-of-severe-hypoglycemias
#7
Nadia Anoun, Hamza Hasnaoui, Firdaous Ameziane Hassani, Mehdi Bourakkadi Idrissi, Abdelmalek Ousadden, Hanan El Ouahabi, Khalid Ait Taleb
Functional endocrine tumors of the pancreas are rare. Among them insulinomas are the most common types. The majority of the patients with insulinoma are between 30 and 60 years of age and 59% of them are women. Most insulinomas are sporadic tumors while 10% of them develop in patients with multiple endocrine neoplasia (MEN). Diagnosis is based on clinical examination and laboratory tests. Preoperative imaging assessment (echo-endoscopy, CT, MRI) is essential for tumor localization in more than 80% of cases...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28973408/fatal-carney-complex-in-siblings-due-to-de-novo-large-gene-deletion
#8
Maria Stelmachowska-Banas, Wojciech Zgliczynski, Piotr Tutka, J Aidan Carney, Márta Korbonits
Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural and cutaneous tumours and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one third of patients the disease is caused by de novo mutation in the PRKAR1A gene localized on chromosome 17q22-24. Most of the mutations include single base substitutions and small deletions/insertions not exceeding 15 base pairs. Recently, large germline PRKAR1A deletions have been described and may cause a more severe phenotype...
July 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28969599/genetic-analysis-of-parathyroid-and-pancreatic-tumors-in-a-patient-with-multiple-endocrine-neoplasia-type-1-using-whole-exome-sequencing
#9
Bo-Young Kim, Mi-Hyun Park, Hae-Mi Woo, Hye-Yeong Jo, Ji Hoon Kim, Hyung Jin Choi, Soo Kyung Koo
BACKGROUND: 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...
October 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28949122/role-of-positron-emission-tomography-in-thyroid-and-neuroendocrine-tumours
#10
Giorgio Treglia, Alexander S Kroiss, Arnoldo Piccardo, Filippo Lococo, Prasanna Santhanam, Alessio Imperiale
BACKGROUND: Positron emission tomography (PET) is an established imaging method in oncology. PET/computed tomography (PET/CT) and PET/magnetic resonance imaging (PET/MRI) are hybrid techniques which combine morphological information obtained by CT and MRI with functional data provided by PET. Several radiotracers evaluating different metabolic pathways or receptor status can be used as PET radiotracers to assess endocrine tumours such as thyroid tumours or neuroendocrine neoplasms (NENs)...
September 25, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28948824/radioimmunoassay-of-chromogranin-a-and-free-metanephrines-in-diagnosis-of-pheochromocytoma
#11
R Bílek, T Zelinka, P Vlček, J Dušková, D Michalský, K Novák, E Václavíková, J Widimský
This work discusses the clinical performance of chromogranin A, free metanephrine and normetanephrine determination in plasma using a radioimmunoanalytical methods for the diagnosis of pheochromocytoma and paraganglioma. Blood samples were collected from 55 patients (46 pheochromocytomas, 9 paragangliomas). A sampling of biological materials was performed preoperatively and about one week, six months and one year after adrenal gland surgery. The comparative group without a diagnosis of pheochromocytoma/paraganglioma consisted of 36 pheochromocytoma/paraganglioma patients more than 4 months after adrenal gland surgery, and of 87 patients, 16 of them with multiple endocrine neoplasia, 9 with medullary and 5 with parafolicullar carcinoma of the thyroid gland...
September 26, 2017: Physiological Research
https://www.readbyqxmd.com/read/28946813/nationwide-french-study-of-ret-variants-detected-from-2003-to-2013-suggests-a-possible-influence-of-polymorphisms-as-modifiers
#12
Maylis Lebeault, Stéphane Pinson, Marine Guillaud-Bataille, Anne-Paule Gimenez-Roqueplo, Alain Carrie, Véronique D Barbu, Pascal Pigny, Stephane Bezieau, Jean Marc Rey, Chantal Delvincourt, Sophie Giraud, Charlotte Veyrat Durebex, Patrick Saulnier, Nathalie Bouzamondo, Marie Chabbert, Julien Blin, Amira Mohamed, PAuline Romanet, Francoise Borson-Chazot, Vincent Rohmer, Anne Barlier, Mirebeau-Prunier Delphine
BACKGROUND: The presence of single nucleotide polymorphisms (SNPs) in the RET (REarranged during Transfection) gene has been investigated with regard to their potential role in the development or progression of medullary thyroid cancer (MTC) or pheochromocytomas (PHEO) in patients with the multiple endocrine neoplasia type 2 (MEN2) syndrome. The aim of this study was to evaluate the spectrum of RET variants in France between 2003 and 2013, and an evaluation of the impact of SNPs on the MEN2 A phenotype...
September 25, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28943896/a-large-chinese-pedigree-of-multiple-endocrine-neoplasia-type-2a-with-a-novel-c634y-d707e-germline-mutation-in-ret-exon-11
#13
Fanqian Lu, Xiaohong Chen, Yunlong Bai, Yaru Feng, Jian Wu
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 a large pedigree (134 members in total) underwent RET mutation screening by next-generation sequencing and polymerase chain reaction (PCR) amplification, followed by direct bidirectional DNA sequencing...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28940393/clinical-features-and-prognosis-of-thymic-neuroendocrine-tumors-associated-with-multiple-endocrine-neoplasia-type-1-a-single-center-study-systematic-review-and-meta-analysis
#14
Lei Ye, Weixi Wang, Naykky Singh Ospina, Lei Jiang, Ioannis Christakis, Jieli Lu, Yulin Zhou, Wei Zhu, Yanan Cao, Shu Wang, Nancy D Perrier, William F Young, Guang Ning, Weiqing Wang
OBJECTIVE: Thymic neuroendocrine tumor (TH-NET) accounts for almost 20% of multiple endocrine neoplasia type 1 (MEN1)-associated mortality. Identifying risk factors for the development of these rare tumors and prognostic factors for clinical outcomes will be helpful in clinical practice. DESIGN AND PATIENTS: We performed a retrospective analysis of patients treated for TH-NET associated with MEN1 in a single institution and meta-analysis of literature reports. We used a fixed effect model to pool results across studies to evaluate the prevalence, clinical features, and prognosis...
September 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28938468/long-term-natural-course-of-small-non-functional-pancreatic-neuroendocrine-tumors-in-men1-results-from-the-dmsg
#15
Carolina R C Pieterman, Joanne M de Laat, Jos W R Twisk, Rachel S van Leeuwaarde, Wouter W de Herder, Koen M A Dreijerink, Ad R M M Hermus, Olaf M Dekkers, Anouk N A van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bastiaan Havekes, Inne H M Borel Rinkes, Menno R Vriens, Gerlof D Valk
Background: Pancreatic neuroendocrine tumors (pNETs) are highly prevalent in patients with Multiple Endocrine Neoplasia type 1 (MEN1) and metastatic disease is an important cause of MEN1-related mortality. Especially small non-functional (NF) pNETs pose a challenge to the treating physician and more information is needed regarding their natural course. We assessed long-term natural history of small NF-pNETs and its modifiers in the Dutch MEN1 population. Patients and Methods: Retrospective longitudinal observational cohort study of patients with small (<2cm) NF-pNETs from the Dutch national MEN1 database which includes >90% of the Dutch MEN1 population...
August 4, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28931560/ret-mediated-modulation-of-tumour-microenvironment-and-immune-response-in-men2
#16
Maria Domenica Castellone, Rosa Marina Melillo
Medullary thyroid carcinomas (MTC) arise from thyroid parafollicular, calcitonin-producing C-cells and can occur either as sporadic or as hereditary diseases in the context of familial syndromes, including multiple endocrine neoplasia 2A (MEN2A), multiple endocrine neoplasia 2B (MEN2B) and familial MTC (FMTC). In a large fraction of sporadic cases, and virtually in all inherited cases of MTC, activating point mutations of the RET proto-oncogene are found. RET encodes for a receptor tyrosine kinase protein endowed with transforming potential on thyroid parafollicular cells...
September 20, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28925363/generation-of-an-induced-pluripotent-stem-cell-line-from-a-patient-with-hereditary-multiple-endocrine-neoplasia-2b-men2b-syndrome-with-highest-risk-ret-mutation
#17
A Bennaceur-Griscelli, J Hadoux, O Féraud, P Opolon, D Divers, E Gobbo, M Schlumberger, F Griscelli, A G Turhan
Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC) and pheochromocytoma. Currently, there is no satisfactory model recapitulating all the features of the disease especially at the level of stem cells. We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC. These iPSC had normal karyotype, harboured the RET(M918T) mutation and expressed pluripotency hallmarks...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28923697/financial-burden-is-associated-with-worse-health-related-quality-of-life-in-adults-with-multiple-endocrine-neoplasia-type-1
#18
Benjamin J Peipert, Sneha Goswami, Irene Helenowski, Susan E Yount, Cord Sturgeon
BACKGROUND: Health-related quality of life and financial burden among patients with multiple endocrine neoplasia type 1 is poorly described. It is not known how financial burden influences health-related quality of life in this population. We hypothesized that the financial burden attributable to multiple endocrine neoplasia type 1 is associated with worse health-related quality of life. METHODS: United States adults (≥18 years) with multiple endocrine neoplasia type 1 were recruited from the AMENSupport MEN online support group...
September 15, 2017: Surgery
https://www.readbyqxmd.com/read/28919319/a-population-based-description-of-familial-clustering-of-hirschsprung-s-disease
#19
Craig C Teerlink, Ryan Bernhisel, Lisa A Cannon-Albright, Michael D Rollins
BACKGROUND: Familial recurrence of Hirschsprung's disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. We describe the familial clustering of HSCR cases using well-established unbiased familial aggregation techniques within the context of a population genealogy. METHODS: Patients included 264 HSCR cases identified using ICD-9 diagnosis coding from the two largest healthcare providers in Utah who also had linked genealogy data...
September 1, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28919050/disease-and-treatment-factors-associated-with-lower-quality-of-life-scores-in-adults-with-multiple-endocrine-neoplasia-type-i
#20
Sneha Goswami, Benjamin J Peipert, Irene Helenowski, Susan E Yount, Cord Sturgeon
BACKGROUND: Physical and psychosocial morbidity of multiple endocrine neoplasia type-1 is ill-defined. How disease and treatment-related factors relate to patient-reported outcomes including health-related quality of life is unknown. We hypothesized that disease and treatment burden negatively impacts health-related quality of life in adults with multiple endocrine neoplasia type-1. METHODS: Adults (≥18 years) with multiple endocrine neoplasia type-1 completed an online survey of demographics, disease features, treatments, and Patient-Reported Outcomes Measurement Information System 29-item profile measure, and scores were compared with normative US data...
September 14, 2017: Surgery
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