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Multiple endocrine neoplasia 2B

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https://www.readbyqxmd.com/read/29770149/diffuse-gastric-ganglioneuromatosis-novel-presentation-of-pten-hamartoma-syndrome-case-report-and-review-of-gastric-ganglioneuromatous-proliferations-and-a-novel-pten-gene-mutation
#1
Alexander J Williams, Emily S Doherty, Michael H Hart, Douglas J Grider
Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29765955/pediatric-multiple-endocrine-neoplasia-type-2b-clinicopathological-correlation-of-perilimbal-mucosal-neuromas-and-treatment-of-secondary-open-angle-glaucoma
#2
Ta Chen Chang, Kingsley C Okafor, Kara M Cavuoto, Sander R Dubovy, Carol L Karp
Ocular findings of multiple endocrine neoplasia type 2B (MEN 2B) include prominent corneal nerves, mucosal neuromas of the conjunctiva, glaucoma, and dry eyes. A 15-year-old girl with MEN 2B presents with advanced secondary open-angle glaucoma and bilateral perilimbal masses. High-resolution optical coherence tomography (HR-OCT) of the perilimbal lesions showed normal epithelial thickness and subepithelial lobular areas of mixed reflectivity, which correlates well with histopathologic findings of benign mucosal neuromas...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29709408/multiple-endocrine-neoplasia-type-2b-men2b-in-a-9-year-old-female
#3
Solon T Kao, Christopher J Capua, Rafik A Abdelsayed
Multiple endocrine neoplasia (MEN) is an uncommon genetic syndrome transmitted as an autosomal dominant condition characterized by multiple tumors or hyperplasia of neuroendocrine tissues. MEN type 2b (MEN2B) often has clinical signs of marfanoid facial appearance and mucosal neuromas of the head. This report describes the diagnosis of MEN2B in a previously undiagnosed 9 year old who presented for biopsy of an oral lesion.
April 7, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29457255/pregnancy-on-vandetanib-in-metastatic-medullary-thyroid-carcinoma-associated-with-multiple-endocrine-neoplasia-type-2b
#4
LETTER
Nicholas Thomas, John Glod, Claudia Derse-Anthony, Emma L Baple, Nigel Osborne, Rachel Sturley, Bijay Vaidya, Kate Newbold, Antonia Brooke
No abstract text is available yet for this article.
May 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29394980/endobronchial-mucosal-neuroma-with-sarcoidosis
#5
Ipek Erdem, Dildar Duman, Selma Eroglu, Meltem Agca, Aykut Erdagi, Hatice Turker, Armagan Hazar
A first case of endobronchial mucosal neuroma with sarcoidosis is hereby reported. A 67-year female patient, who was diagnosed as sarcoidosis previously, was admitted to our hospital with symptoms of dyspnea, chest pain and fatigue. Middle lobe atelectasis and endobronchial lesion were observed in thorax computed tomography (CT). Fiberoptic bronchoscopy revealed polypoid lesions and histopathological examination of biopsy material showed clustered nerve bundles consistent with mucosal neuroma and non-necrotising granulomas consistent with sarcoidosis...
February 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29290324/-mucosal-schwann-cells-hamartoma-review-of-a-recently-described-entity
#6
Francisco García-Molina, José Antonio Ruíz-Macia, Joaquin Sola
Neural lesions of the colon may be masses (schwannomas and neurofibromas) or, more frequently, small polyps including perineuromas, ganglioneuromas and granular cell tumors. Some neural lesions are associated with congenital syndromes (neurofibromatosis-1, multiple endocrine neoplasia-2B). Recently, a new entity has been described named mucosal Schwann cell hamartoma, consisting of an intramucosal neural proliferation; to date, less than forty cases have been reported. We report a further case in a patient from whom a polyp was extirpated during colonoscopy screening...
January 2018: Revista Española de Patología
https://www.readbyqxmd.com/read/29182461/diagnosis-of-multiple-endocrine-neoplasia-type-2b-and-management-of-its-ocular-features
#7
Elke O Kreps, Isabelle Van Herzeele, Bert L Callewaert
BACKGROUND: To describe ocular and vascular findings in a patient with multiple endocrine neoplasia type 2B. MATERIALS AND METHODS: Case report of a 31-year-old male who was referred for ocular assessment following diagnosis of a carotid artery dissection and multiple vascular anomalies. RESULTS: Clinical examination revealed a marfanoid habitus, myelinated corneal nerve fibers, neuromas in the perilimbal area, conjunctival hyperemia with peripheral corneal neovascularization, and posterior blepharitis...
April 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29077903/long-term-survivorship-in-multiple-endocrine-neoplasia-type-2b-diagnosed-before-and-in-the-new-millennium
#8
Friedhelm Raue, Henning Dralle, Andreas Machens, Thomas Bruckner, Karin Frank-Raue
Context: Recent long-term outcomes and survival data are lacking for patients with multiple endocrine neoplasia type 2B (MEN2B). Objectives: To analyze long-term MEN2B outcomes and define prognostic factors. Design, Setting, and Participants: Retrospective comparative study of 75 patients with MEN2B from two German tertiary referral centers. Patients diagnosed and treated before and after 2000 were compared for demographic, biochemical, surgical, and outcome parameters...
January 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29066504/patient-quality-of-life-and-prognosis-in-multiple-endocrine-neoplasia-type-2
#9
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/29049491/dermal-hyperneury-and-multiple-sclerotic-fibromas-in-multiple-endocrine-neoplasia-type-2a-syndrome
#10
Victoria Alegría-Landa, Margarita Jo-Velasco, Mercedes Robledo, Luis Requena
Importance: 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)...
October 18, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29020875/founder-effect-of-the-ret-c611y-mutation-in-multiple-endocrine-neoplasia-2a-in-denmark-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, 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, an unusually high prevalence (33%) of families with the C611Y mutation was reported, and it was hypothesized that this might be due to a founder effect. The first nationwide study of haplotypes in MEN2A families was conducted, with the aim of investigating the relatedness and occurrence of de novo mutations among Danish families carrying similar mutations...
December 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28983374/positive-germline-selection-in-pedigrees-with-multiple-endocrine-neoplasia-type-2-carrying-v804m-mutation-in-the-ret-gene
#12
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/28931560/ret-mediated-modulation-of-tumor-microenvironment-and-immune-response-in-multiple-endocrine-neoplasia-type-2-men2
#13
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/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
#14
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/28868184/multiple-endocrine-neoplasia-2b-differential-increase-in-enteric-nerve-subgroups-in-muscle-and-mucosa
#15
John M Hutson, Pam J Farmer, Cristal J Peck, Chung W Chow, Bridget R Southwell
Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome caused by an activating mutation of the RET gene, leading to enteric gangliomatosis. This child presented with constipation at 1-mo old, was diagnosed with MEN2B by rectal biopsy at 4 mo, had thyroidectomy at 9 mo and a colectomy at 4 years. We studied the extent of neuronal and nerve fibre proliferation and which classes of enteric nerves are affected by examining the colon with multiple neuronal antibodies. Resected transverse colon was fixed, frozen, sectioned and processed for fluorescence immunohistochemistry labelling with antibodies against TUJ1, Hu, ChAT, NOS, VIP, SP and CGRP and cKit...
August 15, 2017: World Journal of Gastrointestinal Pathophysiology
https://www.readbyqxmd.com/read/28610401/oncogenesis-of-thyroid-cancer
#16
Enas Younis
Thyroid neoplasms encompass a variety of lesions that range from benign adenomas to malignancies. These latter can be well-differentiated, poorly differentiated or undifferentiated (anaplastic) carcinomas. More than 95% of thyroid cancers are derived from thyroid follicular cells, while 2-3% (medullary thyroid cancers, MTC) originate from calcitonin producing C-cells. Over the last decade, investigators have developed a clearer understanding of genetic alterations underlying thyroid carcinogenesis. A number of point mutations and translocations are involved, not only in its tumorigenesis, but also as have potential use as diagnostic and prognostic indicators and therapeutic targets...
May 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28504695/epigenetic-pathway-inhibitors-represent-potential-drugs-for-treating-pancreatic-and-bronchial-neuroendocrine-tumors
#17
K E Lines, M Stevenson, P Filippakopoulos, S Müller, H E Lockstone, B Wright, S Grozinsky-Glasberg, A B Grossman, S Knapp, D Buck, C Bountra, R V Thakker
Cancer is associated with alterations in epigenetic mechanisms such as histone modifications and methylation of DNA, and inhibitors targeting epigenetic mechanisms represent a novel class of anti-cancer drugs. Neuroendocrine tumors (NETs) of the pancreas (PNETs) and bronchus (BNETs), which may have 5-year survivals of <50% and as low as 5%, respectively, represent targets for such drugs, as >40% of PNETs and ~35% of BNETs have mutations of the multiple endocrine neoplasia type 1 (MEN1) gene, which encodes menin that modifies histones by interacting with histone methyltransferases...
May 15, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28438782/incidence-and-prevalence-of-multiple-endocrine-neoplasia-2b-in-denmark-a-nationwide-study
#18
LETTER
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Mette Madsen, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Henrik Baymler Pedersen, Christoffer Holst Hahn, Jens Bentzen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas van Overeem Hansen, Finn Cilius Nielsen, Kim Brixen, Anja Lisbeth Frederiksen, Christian Godballe
No abstract text is available yet for this article.
July 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28435794/cushing-disease-in-a-patient-with-multiple-endocrine-neoplasia-type-2b
#19
Kannan Kasturi, Lucas Fernandes, Martha Quezado, Mary Eid, Leigh Marcus, Prashant Chittiboina, Mark Rappaport, Constantine A Stratakis, Brigitte Widemann, Maya Lodish
CONTEXT: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma. Cushing disease is a rare cause of endogenous hypercortisolism in children. CASE DESCRIPTION: We describe a 21-year-old African-American male who was diagnosed at age 10 with an ACTH-secreting pituitary microadenoma. At age 16 he developed medullary thyroid cancer and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene...
June 2017: Journal of Clinical and Translational Endocrinology Case Reports
https://www.readbyqxmd.com/read/28323957/risk-profile-of-the-ret-a883f-germline-mutation-an-international-collaborative-study
#20
Jes Sloth Mathiesen, Mouhammed Amir Habra, John Howard Duncan Bassett, Sirazum Mubin Choudhury, Sabapathy Prakash Balasubramanian, Trevor A Howlett, Bruce G Robinson, Anne-Paule Gimenez-Roqueplo, Frederic Castinetti, Peter Vestergaard, Karin Frank-Raue
Context: The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists. Objective: To create a risk profile for the A883F mutation for appropriate classification among the ATA risk levels...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
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