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https://www.readbyqxmd.com/read/28609830/medullary-thyroid-carcinoma-in-men2a-ata-moderate-or-high-risk-ret-mutations-do-not-predict-disease-aggressiveness
#1
Rachel K Voss, Lei Feng, Jeffrey E Lee, Nancy D Perrier, Paul H Graham, Samual M Hyde, Frances Nieves-Munoz, Maria E Cabanillas, Steven G Waguespack, Gilbert J. Cote, Robert F Gagel, Elizabeth G Grubbs
Context: High-risk RET mutations (codon 634) are associated with earlier development of medullary thyroid carcinoma (MTC) and presumed increased aggressiveness compared with moderate-risk RET mutations. Objective: To determine if high-risk RET mutations are more aggressive Design: Retrospective cohort study utilizing institutional MEN2 registry Setting: A tertiary cancer care center Patients: Those with MTC and moderate- or high-risk germline RET mutation...
May 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28605116/phaeochromocytoma-in-multiple-endocrine-neoplasia-type-2-ret-codon-specific-penetrance-and-changes-in-management-during-the-last-four-decades
#2
L Mucha, G Leidig-Bruckner, K Frank-Raue, Th Bruckner, M Kroiss, F Raue
OBJECTIVES: We describe phaeochromocytoma penetrance in multiple endocrine neoplasia type 2 (MEN2) according to RET protooncogene-specific mutations, and report changes in phaeochromocytoma diagnosis and management from 1968 to 2015. DESIGN: This retrospective chart review included 309 MEN2 patients from one specialised ambulatory care centre. Phaeochromocytoma patients were categorised by diagnosis date: early, 1968-1996, n = 40; and recent, 1997-2015, n = 45. RESULTS: Phaeochromocytoma was diagnosed in 85/309 patients with RET mutations in the following exons (phaeos/all carriers, %): exon 11 (56/120, 46·6%); exon 16 (7/17, 41·2%), exon 10 (14/47, 29·8%), and exon 13-15 (2/116, 1·7%)...
June 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28506408/genetics-of-medullary-thyroid-cancer-an-overview
#3
REVIEW
Giacomo Accardo, Giovanni Conzo, Daniela Esposito, Claudio Gambardella, Marco Mazzella, Filomena Castaldo, Carlo Di Donna, Andrea Polistena, Nicola Avenia, Vittorio Colantuoni, Dario Giugliano, Daniela Pasquali
Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is the dominant component of the hereditary multiple endocrine neoplasia (MEN) type 2 syndromes. Three different subtypes of MEN2, such as MEN2A, MEN2B, and Familial MTC (FMTC) have been defined, based on presence or absence of hyperparathyroidism, pheocromocytoma and characteristic clinical features. Mutations of the RET proto-oncogene are implicated in the pathogenesis of MTC, but there are many other mutational patterns involved...
May 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28493102/men2-syndrome-related-medullary-thyroid-carcinoma-with-focal-tyrosine-hydroxylase-expression-does-it-represent-a-hybrid-cellular-phenotype-or-functional-state-of-tumor-cells
#4
Ozgur Mete, Ahmed Essa, Anil Bramdev, Navendren Govender, Runjan Chetty
No abstract text is available yet for this article.
May 10, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28477304/routine-genetic-screening-with-a-multi-gene-panel-in-patients-with-pheochromocytomas
#5
Emilia Sbardella, Treena Cranston, Andrea M Isidori, Brian Shine, Aparna Pal, Bahram Jafar-Mohammadi, Greg Sadler, Radu Mihai, Ashley B Grossman
PURPOSE: Several new gene mutations have been reported in recent years to be associated with a risk of familial pheochromocytoma. However, it is unclear as to whether extensive genetic testing is required in all patients. METHODS: The clinical data of consecutive patients operated for pheochromocytoma over a decade in a tertiary referral center were reviewed. Genetic screening was performed using a 10-gene panel: RET, VHL, SDHB, SDHD, SDHA, SDHC, SDHAF2, MAX, TMEM127 and FH...
May 5, 2017: Endocrine
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#6
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28276947/assessment-of-depression-anxiety-quality-of-life-and-coping-in-long-standing-multiple-endocrine-neoplasia-type-2-patients
#7
Karine C Rodrigues, Rodrigo A Toledo, Flavia L Coutinho, Adriana B Nunes, Rui M B Maciel, Ana O Hoff, Marcos C Tavares, Sergio P A Toledo, Delmar M Lourenço
BACKGROUND: Data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are scarce. OBJECTIVES: The aim of this study was to assess anxiety, depression, quality of life, and coping in long-standing MEN2 patients. PATIENTS AND METHODS: 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 study with qualitative and quantitative psychological assessment using semi-directed interviews and HADS, EORTC QLQ C30, and MINI-MAC scales...
May 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28184288/genetics-of-multiple-endocrine-neoplasia-type-1-syndrome-what-s-new-and-what-s-old
#8
REVIEW
Alberto Falchetti
Despite its identification in 1997, the functions of the MEN1 gene-the main gene underlying multiple endocrine neoplasia type 1 syndrome-are not yet fully understood. In addition, unlike the RET-MEN2 causative gene-no hot-spot mutational areas or genotype-phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private" (family specific). Even when mutations are shared at an intra- or inter-familial level, the spectrum of clinical presentation is highly variable, even in identical twins...
2017: F1000Research
https://www.readbyqxmd.com/read/28166591/search-of-the-p-m918t-mutation-in-the-ret-oncogene-in-mexican-adult-patients-with-medullary-thyroid-carcinoma
#9
Erika Ruiz-Garcia, Silvia Vidal-Millan, Alicia Lopez-Yañez, José Antonio Posada Torres, Jorge Alberto Guadarrama-Orozco, Leonardo Saul Lino-Silva, Abelardo Meneses-Garcia, Horacio Astudillo-de la Vega, Martin Granados Garcia
Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndromes. The major component tumor of these syndromes is medullary thyroid carcinoma (MTC). To date, somatic mutations in RET have been identified in tumors from individuals with MEN 2 finding. RET M918T mutation is present in 95% of the MEN2B cases, and approximately 50% of sporadic MTCs harbor this mutation. We performed a mutational analysis in 17 cases of Medullary thyroid carcinoma, the somatic missense mutation at codon 918 of RET was found in 2 of the 17 MTCs, and one case presented MEN2 phenotype including MTC...
April 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/27834132/surgical-management-of-medullary-thyroid-carcinoma-in-pediatric-age
#10
Claudio Spinelli, Silvia Strambi, Leonardo Rossi, Rossella Elisei, Maura Massimino
Medullary thyroid carcinoma (MTC) is a rare, accounting for 5% of thyroid malignancies. It is a neuroendocrine tumor wich origins from thyroid parafollicular cells. It may be sporadic, mostly in adult patients, or inherited as autosomal dominant pattern, mostly in pediatric patients. As familial cancer, MTC may presented isolated as familial medullary thyroid carcinoma (FMTC) - 10% of cases - or, most often, as part of multiple endocrine neoplasm type 2 (MEN 2A or MEN 2B) syndromes - 90% of cases. The therapy for sporadic or hereditary MTC is surgical resection and consists in total thyroidectomy associated with central compartment lymph nodal dissection; the radicality of this intervention is fundamental to obtain a definitive cure...
2016: Current Pediatric Reviews
https://www.readbyqxmd.com/read/27809725/distribution-of-ret-mutations-in-multiple-endocrine-neoplasia-2-in-denmark-1994-2014-a-nationwide-study
#11
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas van Overeem Hansen, Finn Cilius Nielsen, Kim Brixen, Christian Godballe, Anja Lisbeth Frederiksen
BACKGROUND: 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. METHODS: 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...
February 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27734708/-multiple-endocrine-neoplasia-i-wermers-syndrome-forms-of-clinical-manifestation-5-case-studies
#12
Karolína Drbalová, Kateřina Herdová, Petr Krejčí, Monika Nývltová, Svatopluk Solař, Lenka Vedralová, Pavel Záruba, David Netuka, Petr Bavor
Multiple Endocrine Neoplasia (MEN) is a condition in which several endocrine organs of an individual are affected by adenoma, hyperplasia and less often carcinoma, either simultaneously or at different stages of life. Two existing syndromes, MEN1 and MEN2 (2A, 2B), in literature is also mentioned MEN4, are associated also with other non-endocrine disorders. MEN1 (Wermer syndrome) affects the pituitary, parathyroid, and pancreatic area. 95 % of patients show very early manifestation of hyperparathyroidism, often before 40 years of age...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27704704/composite-paraganglioma-ganglioneuroma-concomitant-with-adrenal-metastasis-of-medullary-thyroid-carcinoma-in-a-patient-with-multiple-endocrine-neoplasia-type-2b-a-case-report
#13
Mutsushi Yamasaki, Yoshiyasu Sato, Takeo Nomura, Fuminori Sato, Shinya Uchino, Hiromitsu Mimata
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal-dominant cancer syndrome with major components of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN2B is the most aggressive and rarest of the MEN2 variants. Pheochromocytoma in MEN2 is virtually always located in the adrenal medulla, but MEN2-associated extra-adrenal pheochromocytomas (paraganglioma) are rare. A 59-year-old man who has been diagnosed with MEN2B consulted our hospital for surgical treatment of a 10-mm left adrenal mass and a 30-mm retroperitoneal mass...
February 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/27704398/the-ret-e616q-variant-is-a-gain-of-function-mutation-present-in-a-family-with-features-of-multiple-endocrine-neoplasia-2a
#14
William Grey, Rosaline Hulse, Anna Yakovleva, Dilyana Genkova, Benjamin Whitelaw, Ellen Solomon, Salvador J Diaz-Cano, Louise Izatt
The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype. Here, we report a 42-year-old man presented in the clinic with a unilateral PCC, with subsequent investigations revealing a nodular and cystic thyroid gland...
March 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/27635947/nrasq61r-mutation-specific-immunohistochemistry-also-identifies-the-hrasq61r-mutation-in-medullary-thyroid-cancer-and-may-have-a-role-in-triaging-genetic-testing-for-men2
#15
Jessica Reagh, Martyn Bullock, Juliana Andrici, John Turchini, Loretta Sioson, Adele Clarkson, Nicole Watson, Amy Sheen, Grace Lim, Leigh Delbridge, Stan Sidhu, Mark Sywak, Ahmad Aniss, Phillip Shepherd, Daniel Ng, Paul Oei, Michael Field, Diana Learoyd, Bruce G Robinson, Roderick J Clifton-Bligh, Anthony J Gill
A quarter of patients with medullary thyroid carcinoma (MTC) have germline mutations in the RET proto-oncogene indicating MEN2. Therefore genetic testing is recommended for all patients presenting with MTC. Approximately 40% of MTCs have somatic RET mutations. Somatic mutations in the RAS genes are the next most common driver mutations and appear to be mutually exclusive with germline RET mutation. The single most common somatic RAS mutation is HRASQ61R (c.182A>G), reported in 4.6% to 11% of all MTCs. Mutation-specific immunohistochemistry (IHC) initially developed to identify the NRASQ61R mutation in melanoma (clone SP174) has proven highly sensitive and specific...
January 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27604949/multifocality-in-sporadic-medullary-thyroid-carcinoma-an-international-multicenter-study
#16
Garth F Essig, Kyle Porter, David Schneider, Debora Arpaia, Susan C Lindsey, Giulia Busonero, Daniel Fineberg, Barbara Fruci, Kristien Boelaert, Johannes W Smit, Johannes Arnoldus Anthonius Meijer, Leonidas H Duntas, Neil Sharma, Giuseppe Costante, Sebastiano Filetti, Rebecca S Sippel, Bernadette Biondi, Duncan J Topliss, Furio Pacini, Rui M B Maciel, Patrick C Walz, Richard T Kloos
BACKGROUND: Current surgical standard of care in sporadic medullary thyroid carcinoma (sMTC) consists of a minimum of total thyroidectomy with central neck dissection. Some have suggested thyroid lobectomy with isthmusectomy and central neck dissection for patients with sMTC, given their lower frequency of bilateral disease, although this topic has not been thoroughly studied. This study assessed the prevalence of multifocality in sMTC via a large international multi-institutional retrospective review to quantify this prevalence, including the impact of geography, to assess more accurately the risks associated with alternative surgical approaches...
November 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27594983/a-patient-with-men1-typical-features-and-men2-like-features
#17
Diala El-Maouche, James Welch, Sunita K Agarwal, Lee S Weinstein, William F Simonds, Stephen J Marx
Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation in MEN1, no mutation in CDKN1B (p27) and no RET mutation, but had both RET polymorphisms Gly691Ser and Arg982Cys. This is the first case report of a combination of typical clinical findings of MEN1 harboring a germline MEN1 mutation and the MEN2-like phenotype with negative full RET gene analysis of pathogenic variants...
May 2016: International Journal of Endocrine Oncology
https://www.readbyqxmd.com/read/27480304/-genotype-phenotype-correlations-in-multiple-endocrine-neoplasia-type-2
#18
X W Zhang, J Y Wang, Y B Zhang, H F Wan, B Zhang, D G Yan, W S Liu, Z G Xu, P Z Tang
OBJECTIVE: To evaluate the relationship between different RET mutations and the aggressiveness of hereditary medullary thyroid cancer (HMTC) or the presentation of other endocrine disorders in patients with multiple endocrine neoplasia type 2 (MEN2). METHODS: A total of 73 thyroid medullary carcinoma patients from 22 Chinese kindreds who were treated in our center from 2010 to 2015 were enrolled. RET genes in the patients and their relatives were screened. RESULTS: According to the clinical data and 2015 American Thyroid Association (ATA) guidelines, patients were classified into 3 RET mutation risk groups: Modest, 24 cases; High, 48 cases; and Highest, 1 case...
July 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/27306766/genetics-of-parathyroid-tumours
#19
R V Thakker
Primary hyperparathyroidism (PHPT), due to parathyroid tumours, may occur as part of a complex syndrome or as an isolated (nonsyndromic) disorder, and both forms can occur as familial (i.e. hereditary) or nonfamilial (i.e. sporadic) disease. Syndromic PHPT includes multiple endocrine neoplasia (MEN) types 1 to 4 (MEN1 to MEN4) and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome. Syndromic and hereditary PHPT are often associated with multiple parathyroid tumours, in contrast to sporadic PHPT, in which single parathyroid adenomas are more common...
June 16, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27161309/pheochromocytoma-paraganglioma-biochemical-and-genetic-diagnosis
#20
Marta Cano Megías, Diego Rodriguez Puyol, Loreto Fernández Rodríguez, Gloria Lisette Sención Martinez, Patricia Martínez Miguel
Pheochromocytomas and paragangliomas are tumours derived from neural crest cells, which can be diagnosed by biochemical measurement of metanephrine and methoxytyramine. Advances in genetic research have identified many genes involved in the pathogenesis of these tumours, suggesting that up to 35-45% may have an underlying germline mutation. These genes have a singular transcriptional signature and can be grouped into 2 clusters (or groups): cluster 1 (VHL and SHDx), involved in angiogenesis and hypoxia pathways; and cluster 2 (MEN2 and NF1), linked to the kinase signalling pathway...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
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