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https://www.readbyqxmd.com/read/29928469/high-frequency-of-pathogenic-non-founder-germline-mutations-in-brca1-and-brca2-in-families-with-breast-and-ovarian-cancer-in-a-founder-population
#1
J Maksimenko, A Irmejs, G Trofimovičs, D Bērziņa, E Skuja, G Purkalne, E Miklaševičs, J Gardovskis
Background: Pathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene variants in patients with primary breast and ovarian cancer could significantly impact the medical management of patients. The aim of the study was to evaluate the rate of pathogenic mutations in the 26 breast and ovarian cancer susceptibility genes in patients who meet the criteria for BRCA1/2 testing and to compare the accuracy of different selection criteria for second-line testing in a founder population...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29927501/children-with-men1-gene-mutations-may-present-first-and-at-a-young-age-with-cushing-disease
#2
Angeliki Makri, Maria Belen Bonella, Margaret F Keil, Laura Hernandez-Ramirez, Gabriella Paluch, Amit Tirosh, Carolina Saldarriaga, Prashant Chitiboina, Stephen J Marx, Constantine A Stratakis, Maya Lodish
OBJECTIVE: Cushing disease (CD) is a rare entity caused by ACTH-secreting pituitary tumors, leading to prolonged hypercortisolism. Most cases are sporadic but can rarely occur in the context of familial predisposition, due to germline mutations in genes such as MEN1, leading to multiple endocrine neoplasia type 1, MEN1. We have reported previously that CD can be the first and only presenting manifestation of MEN1. In this report, we describe a cohort of pediatric patients who presented with CD as the first manifestation of MEN1...
June 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29922966/parathyroid-carcinoma-in-multiple-endocrine-neoplasm-type-1-syndrome-case-report-and-systematic-literature-review
#3
REVIEW
Giovanna Di Meo, Lucia Ilaria Sgaramella, Valentina Ferraro, Francesco Paolo Prete, Angela Gurrado, Mario Testini
The aim of this report was to illustrate a case of parathyroid carcinoma (PC) in a patient with multiple endocrine neoplasia type 1 (MEN1) along with a comprehensive literature review. A 61-year-old man presented with 9-cm PC causing primary hyperparathyroidism (PHPT). His pre-operative corrected calcium and intact PTH serum levels were 2.92 mmol/L and 391.7 pg/mL, respectively. The neoplastic gland was removed in bloc with thyroid and central compartment lymph nodes. A literature review was run by searching PubMed MEDLINE from 1977 to 2018 for studies of all types, in the English language only, using the terms "Parathyroid, carcinoma, Multiple endocrine neoplasia, type 1, (MEN1)...
June 20, 2018: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/29921249/robotic-enucleation-for-pediatric-insulinoma-with-men1-syndrome-a-case-report-and-literature-review
#4
Mei Liang, Jialin Jiang, Hongmei Dai, Xiafei Hong, Xianlin Han, Lin Cong, Anli Tong, Fang Li, Yaping Luo, Weinan Liu, Liangrui Zhou, Wenyu Di, Wenming Wu, Yupei Zhao
BACKGROUND: A patient with a rare pediatric insulinoma and MEN1 syndrome was treated by robotic enucleation surgery. CASE PRESENTATION: We present a case of a 9-year-old girl presenting with repeated loss of consciousness, concomitant with a pale face, palpitations, and convulsions, which had persisted for 2 years and had been aggravated during the previous 2 months. She was previously misdiagnosed with epilepsy in another hospital. We further examined her while she was hospitalized...
June 19, 2018: BMC Surgery
https://www.readbyqxmd.com/read/29909163/update-on-multiple-endocrine-neoplasia-type-1-and-2
#5
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/29903750/dna-methylation-profiling-in-men1-related-pancreatic-neuroendocrine-tumors-reveals-a-potential-epigenetic-target-for-treatment
#6
Elfi B Conemans, Lutske Lodewijk, Cathy M Moelans, G Johan A Offerhaus, Carolina R C Pieterman, Folkert H Morsink, Olaf M Dekkers, Wouter W de Herder, Ad R Hermus, Anouk N A van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Lodewijk A A Brosens, Koen M A Dreijerink, Inne H M Borel Rinkes, H Th Marc Timmers, Gerlof D Valk, Menno R Vriens
OBJECTIVE: Epigenetic changes contribute to pancreatic neuroendocrine tumor (PanNET) development. Hypermethylation of promoter DNA as a cause of tumor suppressor gene silencing is a well-established oncogenic mechanism that is potentially reversible and therefore an interesting therapeutic target. Multiple Endocrine Neoplasia type 1 (MEN1) is the most frequent cause of inherited PanNETs. The aim of this study was to determine promoter methylation profiles in MEN1-related PanNETs. DESIGN AND METHODS: Methylation-specific multiplex ligation-dependent probe amplification was used to assess promoter methylation of 56 tumor suppressor genes in MEN1-related (n=61) and sporadic (n=34) PanNETs...
June 14, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29903510/quality-of-life-in-multiple-endocrine-neoplasia-type-2a-compared-with-normative-and-disease-populations
#7
Michael N Mongelli, Benjamin J Peipert, Sneha Goswami, Irene Helenowski, Susan E Yount, Cord Sturgeon
BACKGROUND: Patient-reported outcomes are measured in chronic disease states to inform intervention and management decisions while minimizing negative outcomes. We hypothesized that health-related quality of life in patients with multiple endocrine neoplasia type 2A would be worse than the general US population but similar to other chronic diseases. METHODS: Adults ≥18 years with multiple endocrine neoplasia type 2A were recruited to complete the Patient-Reported Outcomes Measurement Information System 29-item questionnaire (n = 45)...
June 11, 2018: Surgery
https://www.readbyqxmd.com/read/29899992/successful-use-of-cinacalcet-to-treat-parathyroid-related-hypercalcemia-in-two-pediatric-patients
#8
E Mogas, A Campos-Martorell, M Clemente, L Castaño, A Moreno-Galdó, D Yeste, A Carrascosa
Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene ( CASR ) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29897580/recent-topics-around-multiple-endocrine-neoplasia-type-1
#9
Stephen J Marx
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are presented for their developments since publication of the most recent MEN1 consensus guidelines 6 years ago. Methods: Topics were selected for clinical impact or broad interest or both. For each topic, information was obtained from original reports and reviews...
April 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29859466/marine-natural-products-for-multi-targeted-cancer-treatment-a-future-insight
#10
REVIEW
Maushmi S Kumar, Kaveri M Adki
Cancer is world's second largest alarming disease, which involves abnormal cell growth and have potential to spread to other parts of the body. Most of the available anticancer drugs are designed to act on specific targets by altering the activity of involved transporters and genes. As cancer cells exhibit complex cellular machinery, the regeneration of cancer tissues and chemo resistance towards the therapy has been the main obstacle in cancer treatment. This fact encourages the researchers to explore the multitargeted use of existing medicines to overcome the shortcomings of chemotherapy for alternative and safer treatment strategies...
May 30, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29848728/co-occurrence-of-men1-p-gly111fs-and-aip-p-arg16his-variants-in-familial-men1-phenotype
#11
Flavia Marques DE Melo, Luciana Bastos-Rodrigues, Maria Marta Sarquis, Eitan Friedman, Luiz DE Marco
BACKGROUND/AIM: Familial multiple endocrine neoplasia type 1 (MEN1) is a rare disorder mostly associated with germline MEN1 mutations. MATERIALS AND METHODS: Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls. RESULTS: A missense variant in AIP (p...
June 2018: Anticancer Research
https://www.readbyqxmd.com/read/29782244/gastric-neuroendocrine-tumors-in-men1-syndrome-cinematic-rendering
#12
Linda C Chu, Elliot K Fishman
No abstract text is available yet for this article.
June 2018: Radiology
https://www.readbyqxmd.com/read/29725435/uncovering-the-heterogeneous-genetic-variations-in-two-insulin-expressing-tumors-in-a-patient-with-men1
#13
Zai Wang, Liguo Liu, Jie Luo, Jing Guo, Min Zhai, Wenjian Zhang, Zhiying Yang
Multiple endocrine neoplasia type 1 (MEN1) is associated with a heterozygous inherited mutation of the menin 1 ( MEN1 ) gene; however, the molecular pathogenesis remains to be fully elucidated. In the present study, whole exome sequencing was performed on two pancreatic neuroendocrine tumors (PNETs), termed T1 and T2, peri-tumoral tissue (PT) and a blood sample obtained from a patient with MEN1. The cells in T1 and T2, but not PT, showed loss of chromosome 11 where MEN1 was located, confirming that the loss of heterozygosity (LOH) of MEN1 was a crucial event in tumorigenesis...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29675587/a-case-of-gastric-neuroendocrine-neoplasm-with-mixed-grade-a-distinct-type-of-high-grade-well-differentiated-neuroendocrine-neoplasm
#14
Elia Guadagno, Gaetano Luglio, Alessandro Iacobelli, Giorgio Borrelli, Antonio Castaldi, Gaetano De Rosa, Marialaura Del Basso De Caro
Grade 3 neuroendocrine tumor (NET G3) is a rare new entity that has recently been introduced in the classification of neuroendocrine neoplasms of the pancreas. It is a well-differentiated form, with a high proliferative activity (Ki67 > 20%), and it represents a category whose prognosis is intermediate between NET G2 and poorly differentiated neuroendocrine carcinoma (NEC G3). In sites other than the pancreas, this new category is by far less coded. Herein is reported a case of NET G3 of the stomach, the 13th described in literature...
April 19, 2018: Endocrine Pathology
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#15
Keith Kerr, Krista Qualmann, Yoshua Esquenazi, John Hagan, Dong H Kim
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. This finding led to the subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic tumors...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29629919/hibernoma-mimicking-atypical-lipomatous-tumor-64-cases-of-a-morphologically-distinct-subset
#16
Youssef Al Hmada, Inga-Marie Schaefer, Christopher D M Fletcher
Hibernoma is a benign adipocytic tumor with predilection for subcutaneous tissue of the thigh, upper trunk, and neck of middle-aged adults. 11q13 rearrangement resulting in MEN1/AIP codeletion is characteristic. Hibernomas are composed, in varying proportions, of brown fat cells, mature adipocytes, and microvacuolated lipoblast-like cells. Examples containing predominantly multivacuolated lipoblast-like cells are uncommon and distinction from atypical lipomatous tumor (ALT) is important for clinical management...
April 6, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29618015/high-fear-of-disease-occurrence-is-associated-with-low-quality-of-life-in-patients-with-multiple-endocrine-neoplasia-type-1-men1-results-from-the-dutch-men1-study-group
#17
Rachel S van Leeuwaarde, Carolina R C Pieterman, Eveline M A Bleiker, Olaf M Dekkers, Anouk N van der Horst-Schrivers, Ad R Hermus, Wouter W de Herder, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Menno R Vriens, Gerlof D Valk
Objective: Multiple Endocrine Neoplasia type 1 (MEN1) is a hereditary disease characterized by a high risk of developing primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors (dpNETs) and pituitary tumors (PIT). Up to now, it is unclear if having MEN1 leads to psychological distress because of fear of disease occurrence (FDO), thereby potentially affecting quality of life. Design: A cross-sectional study was performed using the Dutch MEN1 cohort. All patients received the Cancer Worry Scale (score ≥ 14 reflecting high FDO), the SF-36 Health Related Quality of Life questionnaire (SF-36) and questions on sociodemographic and medical history...
March 30, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29615472/epigenetic-regulation-in-the-tumorigenesis-of-men1-associated-endocrine-cell-types
#18
REVIEW
Sucharitha Iyer, Sunita K Agarwal
Epigenetic regulation is emerging as a key feature in the molecular characteristics of various human diseases. Epigenetic aberrations can occur from mutations in genes associated with epigenetic regulation, improper deposition, removal or reading of histone modifications, DNA methylation/demethylation and impaired non-coding RNA interactions in chromatin. Menin, the protein product of the gene causative for the multiple endocrine neoplasia type 1 (MEN1) syndrome, interacts with chromatin-associated protein complexes and also regulates some non-coding RNAs, thus participating in epigenetic control mechanisms...
July 2018: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/29607201/clinical-implication-of-men1-mutation-in-surgically-resected-thymic-carcinoid-patients
#19
Xiongfei Li, Mingbiao Li, Tao Shi, Renwang Liu, Dian Ren, Fan Yang, Sen Wei, Gang Chen, Jun Chen, Song Xu
Thymic carcinoid is a rare but very aggressive neuroendocrine tumour derived from the neuroendocrine system. Here we report a male patient with thymic atypical carcinoid. Though thymic carcinoid is relatively common, the gene sequencing profile was performed and the gene sequencing result indicated germline multiple endocrine neoplasia type 1 (MEN1) mutation and two somatic mutations on MEN1 gene and no copy number variation or fusion events were detected. It is well-known that the mutation of MEN1 is the typical manifestation of MEN1 syndrome, which is an autosome dominant disease that includes varying combinations of more than 20 endocrine and non-endocrine tumors...
February 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29596894/pancreatic-neuroendocrine-carcinomas-reveal-a-closer-relationship-to-ductal-adenocarcinomas-than-to-neuroendocrine-tumors-g3
#20
Björn Konukiewitz, Moritz Jesinghaus, Katja Steiger, Anna Melissa Schlitter, Atsuko Kasajima, Bence Sipos, Giuseppe Zamboni, Wilko Weichert, Nicole Pfarr, Günter Klöppel
Pancreatic neuroendocrine carcinoma is a rare aggressive tumor commonly harboring TP53 and RB1 alterations and lacking neuroendocrine related genetic changes such as mutations in MEN1 and ATRX/DAXX. Little is known about its genetic profile with regard to that of pancreatic ductal adenocarcinoma. We therefore conducted a detailed genetic study in 12 pancreatic neuroendocrine carcinomas of large cell (n=9) and small cell type (n=3) using massive parallel sequencing applying a 409 gene panel on an Ion Torrent system...
March 26, 2018: Human Pathology
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