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https://www.readbyqxmd.com/read/29909163/update-on-multiple-endocrine-neoplasia-type-1-and-2
#1
Abdallah Al-Salameh, Camille Baudry, Régis Cohen
Multiple endocrine neoplasia type 1 is a rare genetic syndrome, characterized by the co-occurrence, in the same individual or in related individuals of the same family, of hyperparathyroidism, duodenopancraetic neuroendocrine tumors, pituitary adenomas, adrenocortical tumors, and neuroendocrine tumors (carcinoids) in the thymus, the bronchi, or the stomach. Multiple endocrine neoplastic type 2 is a rare genetic syndrome, characterized by the familial occurrence of medullary thyroid carcinoma either isolated or associated with pheochromocytoma, primary hyperparathyroidism, or typical features (Marfanoid habitus, mucosal neuromas)...
June 13, 2018: La Presse Médicale
https://www.readbyqxmd.com/read/29663329/prophylactic-thyroidectomy-in-children-with-multiple-endocrine-neoplasia-type-2
#2
F P Prete, T Abdel-Aziz, C Morkane, C Brain, T R Kurzawinski
BACKGROUND: 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. METHODS: This was a retrospective review of diagnostic and clinicopathological outcomes of prophylactic thyroidectomy in children with MEN2 between 1995 and 2013 in the UK...
April 17, 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29623209/concurrent-primary-hyperparathyroidism-and-pheochromocytoma-in-a-chinese-lady-with-neurofibromatosis-type-1
#3
Cheuk-Lik Wong, Chun-Kit Fok, Vicki Ho-Kee Tam
We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29484475/medullary-thyroid-carcinoma-survival-analysis-and-evaluation-of-mutation-specific-immunohistochemistry-in-detection-of-sporadic-disease
#4
S Jayakody, J Reagh, M Bullock, A Aniss, R Clifton-Bligh, D Learoyd, B Robinson, L Delbridge, S Sidhu, A J Gill, M Sywak
INTRODUCTION: Medullary thyroid cancer (MTC) is a rare tumour of neuroendocrine origin with a more aggressive profile than differentiated thyroid cancer. Familial cases of MTC are associated with RET mutations whilst RAS mutations appear to be a frequent finding in RET negative tumours. The aims of this study were to analyse survival outcomes in MTC and to evaluate the role of RAS immunohistochemistry in the identification of sporadic disease. MATERIALS AND METHODS: A retrospective cohort study of consecutive patients with MTC was undertaken...
May 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/29396759/multiple-endocrine-neoplasia-2-in-cyprus-evidence-for-a-founder-effect
#5
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
#6
Songchang Chen, Shuyuan Li, Junyu Zhang, Lanlan Zhang, Yiyao Chen, Li Wang, Li Jin, Yuting Hu, Xiaoping 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...
March 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
#7
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
#8
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
#9
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
#10
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
#11
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...
February 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29237911/functional-analysis-of-ret-with-multiple-endocrine-neoplasia-type-2
#12
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/structure-and-function-of-ret-in-multiple-endocrine-neoplasia-type-2
#13
REVIEW
Iván Plaza-Menacho
It has been twenty-five years since the discovery of oncogenic germline RET mutations as the cause of multiple endocrine neoplasia type 2 (MEN2). Intensive work over the last two and a half decades on RET genetics, signaling and cell biology has 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 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...
February 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29142004/advances-in-the-management-of-men2-from-improved-surgical-and-medical-treatment-to-novel-kinase-inhibitors
#14
REVIEW
Samuel A 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...
February 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29066504/patient-quality-of-life-and-prognosis-in-multiple-endocrine-neoplasia-type-2
#15
REVIEW
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 cancer (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...
February 2018: 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
#16
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
#17
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...
December 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
#18
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-tumor-microenvironment-and-immune-response-in-multiple-endocrine-neoplasia-type-2-men2
#19
REVIEW
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...
February 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28902384/-multiple-endocrine-neoplasia
#20
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
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