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https://www.readbyqxmd.com/read/27913610/whole-exome-sequencing-of-thymic-neuroendocrine-tumor-with-ectopic-acth-syndrome
#1
Yanli Li, Ying Peng, Xiuli Jiang, Yulong Cheng, Weiwei Zhou, Tingwei Su, Jing Xie, Xu Zhong, Dalong Song, Luming Wu, Liwen Fan, Min Li, Jie Hong, Weiqing Wang, Guang Ning, Yanan Cao
OBJECTIVE: Thymic neuroendocrine tumor is the second-most prevalent cause of ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS), which is a rare disease characterized by ectopic ACTH oversecretion from nonpituitary tumors. However, the genetic abnormalities of thymic neuroendocrine tumors with EAS remain largely unknown. We aim to elucidate the genetic abnormalities and identify the somatic mutations of potential tumor-related genes of thymic neuroendocrine tumors with EAS by whole exome sequencing...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27904855/multiple-endocrine-neoplasia-type-1-with-anterior-mediastinal-parathyroid-adenoma-successful-localization-using-tc-99m-sestamibi-spect-ct
#2
Hye Lim Park, Ie Ryung Yoo, Sung Hoon Kim, Sohee Lee
The most common manifestation of multiple endocrine neoplasia type 1 (MEN1) is hyperparathyroidism. Treatment of hyperparathyroidism in MEN patients is surgical removal of the parathyroid glands, however ectopic parathyroid gland is challenging for treatment. A 51-year-old female, the eldest of 3 MEN1 sisters, had hyperparathyroidism with ectopic parathyroid adenoma in the mediastinal para-aortic region, which was detected by technetium-99m (Tc-99m) sestamibi scintigraphy and single-photon emission computed tomography/computed tomography (SPECT/CT)...
December 2016: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/27873319/lung-neuroendocrine-tumours-deep-sequencing-of-the-four-who-histotypes-reveals-chromatin-remodelling-genes-as-major-players-and-a-prognostic-role-for-tert-rb1-men1-and-kmt2d
#3
Michele Simbolo, Andrea Mafficini, Katarzyna O Sikora, Matteo Fassan, Stefano Barbi, Vincenzo Corbo, Luca Mastracci, Borislav Rusev, Federica Grillo, Caterina Vicentini, Roberto Ferrara, Sara Pilotto, Federico Davini, Giuseppe Pelosi, Rita T Lawlor, Marco Chilosi, Giampaolo Tortora, Emilio Bria, Gabriella Fontanini, Marco Volante, Aldo Scarpa
Next-generation sequencing (NGS) was applied to 148 lung neuroendocrine tumours (LNET) comprising the 4 WHO classification categories: 53 typical carcinoid (TC), 35 atypical carcinoid (AC), 27 large cell neuroendocrine carcinoma (LCNEC), and 33 small cell lung carcinoma (SCLC). A discovery screen was conducted on 46 samples using whole-exome sequencing and high-coverage targeted sequencing of 418 genes. Eighty-eight recurrently mutated genes from both the discovery screen and current literature were verified in the 46 cases of the discovery screen and validated on additional 102 LNET by targeted NGS, and their prevalence was evaluated on the whole series...
November 22, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27872097/menin-and-daxx-interact-to-control-neuroendocrine-tumors-via-epigenetic-regulation-of-membrane-metallo-endopeptidase
#4
Zijie Feng, Lei Wang, Yanmei Sun, Zongzhe Jiang, John Domsic, Chiying An, Bowen Xing, Jingjing Tian, Xiuheng Liu, David C Metz, Xiaolu Yang, Ronen Marmorstein, Xiaosong Ma, Xianxin Hua
Neuroendocrine tumors (NETs) often harbor loss-of-function mutations in the MEN1 gene that encodes the protein menin as well as in the Daxx gene. Both menin and Daxx interact with several partners to regulate cellular processes and gene expression. Here, we show that menin directly interacts with Daxx to suppress proliferation of NET cells partly by inhibiting a common target gene, membrane metallo-endopeptidase (Mme). Menin and Daxx are required for each other to enhance histone H3 lysine9 trimethylation (H3K9me3) at Mme promoter, partly through SUV39H1...
November 21, 2016: Cancer Research
https://www.readbyqxmd.com/read/27846313/clinical-and-genetic-analysis-of-multiple-endocrine-neoplasia-type-1-related-primary-hyperparathyroidism-in-chinese
#5
Jing Kong, Ou Wang, Min Nie, Jie Shi, Yingying Hu, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing
OBJECTIVE: Multiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT. DESIGN AND METHODS: A total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system...
2016: PloS One
https://www.readbyqxmd.com/read/27842554/men1-redefined-a-clinical-comparison-of-mutation-positive-and-mutation-negative-patients
#6
Joanne M de Laat, Rob B van der Luijt, Carolina R C Pieterman, Maria P Oostveen, Ad R Hermus, Olaf M Dekkers, Wouter W de Herder, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Menno R Vriens, Gerlof D Valk
BACKGROUND: Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. The present study aims to describe and compare the clinical course of MEN1 mutation-negative patients with two out of the three main MEN1 manifestations and mutation-positive patients during long-term follow-up...
November 15, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27811505/early-and-late-complications-after-surgery-for-men1-related-nonfunctioning-pancreatic-neuroendocrine-tumors
#7
Sjoerd Nell, Inne H M Borel Rinkes, Helena M Verkooijen, Bert A Bonsing, Casper H van Eijck, Harry van Goor, Ruben H J de Kleine, Geert Kazemier, Elisabeth J Nieveen van Dijkum, Cornelis H C Dejong, Gerlof D Valk, Menno R Vriens
OBJECTIVE: To estimate short and long-term morbidity after pancreatic surgery for multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-pNETs). BACKGROUND: Fifty percent of the MEN1 patients harbor multiple NF-pNETs. The decision to proceed to NF-pNET surgery is a balance between the risk of disease progression versus the risk of surgery-related morbidity. Currently, there are insufficient data on the surgical complications after MEN1 NF-pNET surgery...
November 1, 2016: Annals of Surgery
https://www.readbyqxmd.com/read/27801610/kmt2a-cooperates-with-menin-to-suppress-tumorigenesis-in-mouse-pancreatic-islets
#8
Wenchu Lin, Joshua M Francis, Hong Li, Xiaoping Gao, Chandra Sekhar Pedamallu, Patricia Ernst, Matthew Meyerson
The reported incidence of pancreatic neuroendocrine tumors (PanNETs) has increased, due in large part to improvements in detection and awareness. However, therapeutic options are limited and a critical need exists for understanding a more thorough characterization of the molecular pathology underlying this disease. The Men1 knockout mouse model recapitulates the early stage of human PanNET development and can serve as a foundation for the development of advanced mouse models that are necessary for preclinical testing...
November 1, 2016: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/27801341/-the-expression-of-p27-kip1-and-%C3%AE-catenin-in-multiple-endocrine-neoplasia-type-1-related-parathyroid-tumors
#9
J Kong, O Wang, M Nie, J Shi, Y Jiang, M Li, W B Xia, X W Meng, X P Xing
Objective: To explore tissue expression of cyclin-dependent kinase inhibitor p27(Kip1) and β-catenin in multiple endocrine neoplasia type1 (MEN1)-related parathyroid tumors (MHPT). Methods: Immunohistochemistry was performed to analyze the expression of p27(Kip1) and β-catenin in parathyroid glands from 31 subjects with MHPT collected at Peking Union Medical College Hospital from 2002 to 2013. Five normal parathyroid glands were used as control. Results: In MHPT subjects, nuclear expression of p27(Kip1) was absent in 4 (12...
November 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/27799361/de-novo-mutation-in-men1-is-not-associated-with-parental-somatic-mosaicism
#10
Yael Laitman, Anat Jaffe, Hagit Schayek, Eitan Friedman
Extract: Dear Editor, Multiple Endocrine Neoplasia Type 1 (MEN1- OMIM #131100) is characterized by the co-occurrence of tumors in at least two of the following three endocrine tissues: parathyroid, endocrine pancreas and anterior pituitary [Thakker 2014]. Familial MEN1 follows an autosomal dominant mode of inheritance and germline mutations in the MEN1 gene at 11q13 can be detected in affected family members [Chandrasekharappa et al 1997]. Mutations in the CDKN1B gene (CDKN1B, KIP1, OMIM #600778) have been also reported in MEN1 families but are far less frequent [Pellegata et al 2006]...
October 31, 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27798149/menin-plays-a-critical-role-in-the-regulation-of-the-antigen-specific-cd8-t-cell-response-upon-listeria-infection
#11
Takeshi Yamada, Makoto Kanoh, Shogo Nabe, Toshiaki Yasuoka, Junpei Suzuki, Akira Matsumoto, Makoto Kuwahara, Saho Maruyama, Takuya Fujimoto, Ryo Sakisuka, Masaki Yasukawa, Masakatsu Yamashita
Menin, a tumor suppressor protein, is encoded by the MEN1 gene in humans. Certain germinal mutations of MEN1 induce an autosomal-dominant syndrome that is characterized by concurrent parathyroid adenomas and several other tumor types. Although menin is also expressed in hematopoietic lineages, its role in CD8(+) T cells remains unclear. We generated Menin(flox/flox) CD4-Cre (Menin-KO) mice by crossing Menin(flox/flox) mice with CD4-Cre transgenic (Tg) mice to determine the role of menin in CD8(+) T cells. Wild-type (WT) and Menin-KO mice were infected with Listeria monocytogenes expressing OVA to analyze the immune response of Ag-specific CD8(+) T cells...
October 19, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27766445/cystic-parathyroid-glands-in-men1-a-rare-entity
#12
Tiziana Cavalli, Francesco Giudici, Gabriella Nesi, Andrea Amorosi, Raffaella Santi, Maria Luisa Brandi, Francesco Tonelli
Approximately 300 cases of sporadic parathyroid cyst (PCs) have been reported to date. Only two cases have been described in MEN1 so far. Detection by imaging could be challenging, especially in multiglandular primary hyperparathyroidism (HPT) and clinical outcome could be different. During the period 1990-2014, 71 MEN1 patients were operated for primary hyperparathyroidism in our centre. We report three cases of PCs in MEN1 patients affected by HPT, who underwent a total or subtotal parathyroidectomy with transcervical thymectomy...
October 20, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27760321/a-crispr-dropout-screen-identifies-genetic-vulnerabilities-and-therapeutic-targets-in-acute-myeloid-leukemia
#13
Konstantinos Tzelepis, Hiroko Koike-Yusa, Etienne De Braekeleer, Yilong Li, Emmanouil Metzakopian, Oliver M Dovey, Annalisa Mupo, Vera Grinkevich, Meng Li, Milena Mazan, Malgorzata Gozdecka, Shuhei Ohnishi, Jonathan Cooper, Miten Patel, Thomas McKerrell, Bin Chen, Ana Filipa Domingues, Paolo Gallipoli, Sarah Teichmann, Hannes Ponstingl, Ultan McDermott, Julio Saez-Rodriguez, Brian J P Huntly, Francesco Iorio, Cristina Pina, George S Vassiliou, Kosuke Yusa
Acute myeloid leukemia (AML) is an aggressive cancer with a poor prognosis, for which mainstream treatments have not changed for decades. To identify additional therapeutic targets in AML, we optimize a genome-wide clustered regularly interspaced short palindromic repeats (CRISPR) screening platform and use it to identify genetic vulnerabilities in AML cells. We identify 492 AML-specific cell-essential genes, including several established therapeutic targets such as DOT1L, BCL2, and MEN1, and many other genes including clinically actionable candidates...
October 18, 2016: Cell Reports
https://www.readbyqxmd.com/read/27756606/screening-for-genetic-causes-of-growth-hormone-hypersecretion
#14
Liliya Rostomyan, Albert Beckers
Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. as aggressive sporadic adenomas or in familial isolated pituitary adenomas (FIPA)) or as part of syndromic conditions such as MEN1 or Carney complex. These tumors have more aggressive features than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to manage...
October 12, 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/27742789/novel-genetic-causes-of-pituitary-adenomas
#15
EDITORIAL
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27742788/translational-diagnostics-and-therapeutics-in-pancreatic-neuroendocrine-tumors
#16
EDITORIAL
Jessica E Maxwell, Scott K Sherman, James R Howe
Pancreatic neuroendocrine tumors (PNET) are rare tumors, but have been increasing in incidence. Although typically thought of as indolent, more than half of patients present with metastatic disease. For many years, the only mutations commonly known in these tumors were those in the MEN1 gene. Recently, the genetics underlying PNETs have been further defined through exome sequencing. The most frequent alterations found in sporadic PNETs are in MEN1, DAXX/ATRX, and a variety of genes in the mTOR pathway. Confirmation of these mutations has prompted trials with a number of drugs active in these pathways, and two drugs were eventually approved in 2011-sunitinib and everolimus...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27734708/-multiple-endocrine-neoplasia-i-wermers-syndrome-forms-of-clinical-manifestation-5-case-studies
#17
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/27617149/multiple-endocrine-neoplasia-a-genetically-diverse-group-of-familial-tumor-syndromes
#18
REVIEW
M Cristina Pacheco
Multiple endocrine neoplasia (MEN) syndrome is a familial cancer syndrome characterized by neuroendocrine tumors. The syndrome encompasses four major subtypes: MEN1, MEN2A, MEN2B, and MEN4. MEN1 is caused by mutations in the MEN1 gene, MEN2A and MEN2B are caused by mutations in RET, and MEN4 is caused by mutations in CDKNB1. All are inherited in an autosomal dominant pattern, but de novo cases do arise. While all subtypes are associated with neuroendocrine tumors, each has characteristic organ involvement. Identifying patients with the syndrome can aid in proper screening and treatment...
June 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27600151/pituitary-tumors-in-men1-do-not-be-misled-by-borderline-elevated-prolactin-levels
#19
Alina Livshits, Jelena Kravarusic, Ellie Chuang, Mark E Molitch
PURPOSE: The objective of this case report is to demonstrate that the simple expedient of measuring periodic prolactin levels in patients with MEN1 who have modest hyperprolactinemia and normal pituitary MRI scans is insufficient to monitor for the development of pituitary adenomas. METHODS: Review of relevant literature and chart review. RESULTS: A 25 year old man with known MEN1 manifested by hyperparathyroidism and a gastrin-producing neuroendocrine tumor was found to have a prolactin [PRL] level of 20...
December 2016: Pituitary
https://www.readbyqxmd.com/read/27594983/a-patient-with-men1-typical-features-and-men2-like-features
#20
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
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