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https://www.readbyqxmd.com/read/29396759/multiple-endocrine-neoplasia-2-in-cyprus-evidence-for-a-founder-effect
#1
P Fanis, N Skordis, S Frangos, G Christopoulos, E Spanou-Aristidou, E Andreou, P Manoli, M Mavrommatis, S Nicolaou, M Kleanthous, M A Cariolou, V Christophidou-Anastasiadou, G A Tanteles, L A Phylactou, V Neocleous
PURPOSE: 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. METHODS AND PATIENTS: 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-chromosome genotyping and haplogroup assignment was also performed...
February 2, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29378479/preimplantation-genetic-diagnosis-of-multiple-endocrine-neoplasia-type-2a-using-informative-markers-identified-by-targeted-sequencing
#2
Songchang Chen, Shuyuan Li, Junyu Zhang, Lanlan Zhang, Yiyao Chen, Li Wang, Li Jin, Yuting Hu, Xiao-Ping Qi, Hefeng Huang, Chenming Xu
BACKGROUND: 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...
January 29, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29362346/-a-case-of-rectal-cancer-with-multiple-endocrine-neoplasia-type-2
#3
Ryota Mori, Kohei Murata, Yoshinori Kagawa, Yohei Nose, Kenji Kawai, Takuya Sakamoto, Atsushi Naito, Kohei Murakami, Yoshiteru Katsura, Yoshiaki Ohmura, Toru Masuzawa, Atsushi Takeno, Yutaka Takeda
A 63-year-old man with multiple endocrine neoplasia type 2(MEN2)was admitted to the hospital because of positive fecal occult blood tests. Colonoscopy revealed a 50mm type 2 tumor at the rectum, which was diagnosed as an adenocarcinoma based on histology. Since there was no apparent distant metastasis, laparoscopy-assisted low anterior resection with regional lymph node dissection was performed. The final diagnosis was pT3, pN0, pM0, pStage II . Almost all patients with MEN2 have RET mutations, and they are resistant to EGFR inhibitors...
January 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29348307/non-mammalian-models-of-multiple-endocrine-neoplasia-type-2
#4
REVIEW
Tirtha K Das, Ross L Cagan
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 treatment and chemotherapeutics have all shown limited success, and none of these approaches have proven durable in advanced disease...
February 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29348306/novel-targeted-therapeutics-for-men2
#5
REVIEW
Sara Redaelli, Ivan Plaza-Menacho, Luca Mologni
The rearranged during transfection (RET) proto-oncogene was recognized as the multiple endocrine neoplasia type 2 (MEN2) causing gene in 1993. Since then, much effort has been put into a clear understanding of its oncogenic signaling, its biochemical function and ways to block its aberrant activation in MEN2 and related cancers. Several small molecules have been designed, developed or redirected as RET inhibitors for the treatment of MEN2 and sporadic MTC. However, current drugs are mostly active against several other kinases, as they were not originally developed for RET...
February 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29341163/extent-of-surgery-for-phaeochromocytomas-in-the-genomic-era
#6
REVIEW
H M Rossitti, P Söderkvist, O Gimm
BACKGROUND: Germline mutations are present in 20-30 per cent of patients with phaeochromocytoma. For patients who develop bilateral disease, complete removal of both adrenal glands (total adrenalectomy) will result in lifelong adrenal insufficiency with an increased risk of death from adrenal crisis. Unilateral/bilateral adrenal-sparing surgery (subtotal adrenalectomy) offers preservation of cortical function and independence from steroids, but leaves the adrenal medulla in situ and thus at risk of developing new and possibly malignant disease...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29336779/prophylactic-thyroidectomies-in-men2-syndrome-management-and-outcomes
#7
Virginie Bussières, Shreyas Roy, Johnny Deladoey, Élisabeth Rousseau, Dickens St-Vil, Nelson Piché
AIM OF THE STUDY: The aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome. METHODS: A chart review of patients <18years old who underwent prophylactic thyroidectomy for a MEN2 syndrome at a children's hospital between 2006 and 2015 was performed. MAIN RESULTS: The study included 21 patients (57% female) with a mean age of 6...
November 13, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29237911/functional-analysis-of-ret-with-multiple-endocrine-neoplasia-type-2
#8
Meihua Zhang, Yao Liu, Jie Fu, Ying Hu, Zheng Sun
BACKGROUND: Multiple endocrine neoplastic type 2 (MEN2) is an endocrine carcinoma syndrome which is caused by a germline activation mutation that occurs during transfection (RET) proto-oncogene transmission. MEN2A patients are affected by RET (C634Y, C634R) mutation; MEN2B patients are affected by RET (M918T) mutation. AIMS: We aim to identify RET mutations' (C634R and M918T) expression, location, and signaling activation during the disease's progression, which providing a theoretical basis for the study on etiology of multiple endocrine neoplasia...
2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/29175871/ret-receptor-structure-and-function-in-men2
#9
Ivan Plaza-Menacho
It has been 25 years since the discovery of oncogenic germline RET mutations as the cause of Multiple Endocrine Neoplasia type II (MEN2). Intensive work over the last two and a half decades on RET genetics, signaling and cell biology have provided the current bases for the genotype-phenotype and functional correlations within this cancer syndrome. On the contrary, the structural and molecular basis for RET tyrosine kinase domain activation and oncogenic deregulation has remained largely elusive. Recent studies with a strong crystallographic and biochemical focus however have started to elucidate key insights into such molecular and atomic details revealing unexpected and private mechanisms of actions and molecular determinants not previously envisioned...
November 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29142004/advances-in-the-management-of-men2
#10
Samuel Wells
Medullary thyroid carcinoma (MTC), a tumor derived from the neural crest, occurs either sporadically or as the dominant component of the type 2 multiple endocrine neoplasia (MEN) syndromes, MEN2A and MEN2B. The discovery that mutations in the RET protooncogene cause hereditary MTC was of great importance, since it led to the development of novel methods of diagnosis and treatment. For example, the detection of a mutated RET allele in family members at risk for inheriting MEN2A or MEN2B signaled that they would develop MTC, and possibly other components of the syndromes...
November 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29066504/patient-quality-of-life-and-prognosis-in-men2
#11
Joanna Grey, Kym Winter
Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal dominant neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B). They are typified by the development of medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid hyperplasia in MEN2A, and MTC, phaeochromocytomas, ganglioneuromatosis and skeletal abnormalities in MEN2B. The aggressiveness of MTC is variable according to genotype, and although it is still the major cause of mortality in both conditions, prognosis has improved dramatically in those diagnosed and treated at a young age thanks to predictive genetic testing...
October 24, 2017: Endocrine-related Cancer
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
#12
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/28946813/nationwide-french-study-of-ret-variants-detected-from-2003-to-2013-suggests-a-possible-influence-of-polymorphisms-as-modifiers
#13
Maylis Lebeault, Stéphane Pinson, Marine Guillaud-Bataille, Anne-Paule Gimenez-Roqueplo, Alain Carrie, Véronique Barbu, Pascal Pigny, Stéphane 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, Delphine Mirebeau-Prunier
BACKGROUND: The presence of single nucleotide polymorphisms (SNPs) in the REarranged during Transfection (RET) gene has been investigated with regard to their potential role in the development or progression of medullary thyroid cancer 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 to evaluate the impact of SNPs on the MEN2 A phenotype...
November 3, 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
#14
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/28931560/ret-mediated-modulation-of-tumour-microenvironment-and-immune-response-in-men2
#15
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/28902384/-multiple-endocrine-neoplasia
#16
Ludwig Schaaf, Friedhelm Raue
Multiple endocrine neoplasia type 1 and 2 are hereditary cancer syndromes. They are characterized by the occurrence of many benign and malignant tumor types, in MEN1 parathyroid tumors, pituitary tumors, and pancreas tumors, in MEN2 medullary thyroid carcinoma, pheochromocytoma, and parathyroid tumors. The autosomal dominant inherited tumor syndromes are caused by mutations in the MEN1 gene, a tumor suppressor gene, and mutations in the RET gene, an activated oncogene, in MEN2. The clinical expression of the different tumors can vary within and between families, with a good genotype-phenotype correlation in MEN2...
September 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28883084/advances-in-risk-oriented-surgery-for-multiple-endocrine-neoplasia-type-2
#17
Andreas Machens, Henning Dralle
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 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...
September 7, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28883010/laparoscopic-adrenalectomy-as-an-effective-approach-to-massive-bilateral-pheochromocytomas
#18
Diana Martins, Dírcea Rodrigues, Miguel Melo, Francisco Carrilho
Pheochromocytomas are catecholamine-secreting neoplasms, arising from adrenomedullary chromaffin cells. In type 2 multiple endocrine neoplasia (MEN2) syndrome, pheochromocytomas are usually benign but with predisposition to be bilateral (50%-80% of cases).The authors present the case of a young patient diagnosed with uncommonly large bilateral cystic pheochromocytomas and simultaneous detection of medullary thyroid carcinoma. Molecular testing confirmed germline RET codon C634 mutation, consistent with MEN2A syndrome...
September 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28881068/molecular-genetics-of-syndromic-and-non-syndromic-forms-of-parathyroid-carcinoma
#19
REVIEW
Luís Cardoso, Mark Stevenson, Rajesh V Thakker
Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT-JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas...
December 2017: Human Mutation
https://www.readbyqxmd.com/read/28874394/looking-beyond-the-thyroid-advances-in-understanding-of-pheochromocytoma-and-hyperparathyroidism-phenotypes-in-men2-and-of-non-men2-familial-forms
#20
Carole Guerin, Pauline Romanet, David Taieb, Thierry Brue, André Lacroix, Frederic Sebag, Anne Barlier, Frederic Castinetti
Over the last years, the knowledge of MEN2 and non MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis depend on the mutation of RET. Given the prevalence of bilateral PHEO (50% by age 50), adrenal sparing surgery, aimed at sparing a part of the adrenal cortex to avoid adrenal insufficiency, should be systematically considered in patients with bilateral PHEO. Non MEN2 familial forms of PHEO now include more than 20 genes: however, only small phenotypic series have been reported, suggesting that phenotypic features of isolated hereditary PHEO must be better explored, and follow-up series are needed to better understand the outcome of patients carrying mutations of these genes...
September 5, 2017: Endocrine-related Cancer
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