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https://www.readbyqxmd.com/read/29212165/assessment-of-pancreatic-neuroendocrine-tumor-cytologic-genotype-diversity-to-guide-personalized-medicine-using-a-custom-gastroenteropancreatic-next-generation-sequencing-panel
#1
Ferga C Gleeson, Jesse S Voss, Benjamin R Kipp, Sarah E Kerr, John S Van Arnam, John R Mills, Cherisse A Marcou, Amber R Schneider, Zheng Jin Tu, Michael R Henry, Michael J Levy
Background: Recent genetic studies have highlighted that alterations in MEN1, chromatin remodeling genes, and mammalian target of rapamycin (mTOR) pathway genes are the most frequent molecular events identified in pancreas neuroendocrine tumors (pNETs). The prognostic or predictive impact of these biomarkers and other less frequently observed aberrations, i.e. PTEN, TSC2 and PIK3CA are relatively unknown. The aims of this targeted next generation sequencing (NGS) study were to assess tumor cytology genotype diversity, to survey for potential adverse prognostic biomarkers and the prevalence of mTOR pathway variants...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29188494/menin-modulates-mammary-epithelial-cell-numbers-in-bovine-mammary-glands-through-cyclin-d1
#2
Kerong Shi, Xue Liu, Honghui Li, Xueyan Lin, Zhengui Yan, Qiaoqiao Cao, Meng Zhao, Zhongjin Xu, Zhonghua Wang
Menin, the protein encoded by the MEN1 gene, is abundantly expressed in the epithelial cells of mammary glands. Here, we found MEN1/menin expression slowly decreased with advancing lactation but increased by the end of lactation. It happened that the number of bovine mammary epithelial cells decreases since lactation, suggesting a role of menin in the control of mammary epithelial cell growth. Indeed, reduction of menin expression through MEN1-specific siRNA transfection in the bovine mammary epithelial cells caused cell growth arrest in G1/S phase...
November 29, 2017: Journal of Mammary Gland Biology and Neoplasia
https://www.readbyqxmd.com/read/29181825/a-primary-hepatic-gastrinoma-accompanied-by-hyperplasia-of-multi-nodular-brunner-s-glands
#3
Takaomi Hagi, Yohei Hosoda, Izumi Komoto, Shinji Uemoto, Susumu Hijioka, Yoshiro Taki, Kazuhiro Nishiyama, Masayuki Imamura
BACKGROUND: Primary hepatic gastrinoma causing severe ulcerogenic syndrome is extremely rare. Herein, we report a case of primary hepatic gastrinoma accompanied by hyperplasia of multi-nodular Brunner's glands in a patient who instead, preoperatively, was suspected of having multiple duodenal gastrinomas and hepatic metastasis. CASE PRESENTATION: A 57-year-old woman consulted a clinic complaining of melena, intermittent abdominal pain, diarrhea, and vomiting which had persisted for about 3 years...
November 28, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/29174091/pancreatic-hemi-agenesis-in-men1-a-clinical-report
#4
Wouter J Vinck, Frank Van de Mierop, François Van Mieghem, Maarten Vinck, Herman Becq, Geneviève Michils
We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported in MEN1. Recent data in mice have elucidated the molecular mechanisms of pancreatic endoderm specification. Disinhibition of hedgehog signaling appears to be important in how Gata4 and Gata6 variants cause pancreatic agenesis. Disinhibition of hedgehog signaling has also been observed in Men1 knockout pancreatic islets. Although we cannot exclude a spurious association between dorsal pancreatic hemi-agenesis and MEN1 in our patient, we argue that developmental abnormalities of the pancreas may have to be considered as possibly related to the MEN1 phenotype...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29167182/tsc2-rare-germline-variants-in-non-tuberous-sclerosis-patients-with-neuroendocrine-neoplasias
#5
Paula Fontes Asprino, Rudinei Diogo Marques Linck, Jonatas Cesar, Florêncio Porto Freitas, Fernanda Christtanini Koyama, Rachel Simões Pimenta Riechelmann, Frederico Perego Costa, Paulo Hoff, Pedro Alexandre Favoretto Galante, Diogo Meyer, Anamaria Aranha Camargo, Jorge Sabbaga
Neuroendocrine neoplasias (NENs) are predominantly considered sporadic diseases, although 5-20% of all cases occur in the context of genetic syndromes. Here, we screened non-syndromic gastroenteropancreatic (GEP) NEN patients for the presence of rare germline variants in genes previously associated with NEN-predisposing syndromes. Ninety-three patients with any grade of GEP NEN and no clinical or molecular diagnosis of any syndrome were enrolled in this study. Peripheral blood leucocyte DNA was used to sequence the MEN1, RET, VHL, NF1, TSC1 and TSC2 genes...
November 22, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29149451/transcriptional-alterations-in-hereditary-and-sporadic-nonfunctioning-pancreatic-neuroendocrine-tumors-according-to-genotype
#6
Xavier M Keutgen, Suresh Kumar, Sudheer Gara, Myriem Boufraqech, Sunita Agarwal, Ralph H Hruban, Naris Nilubol, Martha Quezado, Richard Finney, Maggie Cam, Electron Kebebew
BACKGROUND: Nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) may be sporadic or inherited because of germline mutations associated with von Hippel-Lindau disease (VHL) or multiple endocrine neoplasia type 1 (MEN1). The clinical behavior of NFPanNETs is difficult to predict, even in tumors of the same stage and grade. The authors analyzed genotype-specific patterns of transcriptional messenger RNA (mRNA) levels of NFPanNETs to understand the molecular features that determine PanNET phenotype...
November 17, 2017: Cancer
https://www.readbyqxmd.com/read/29138914/impact-of-tailored-parathyroidectomy-for-treatment-of-primary-hyperparathyroidism-in-patients-with-multiple-endocrine-neoplasia-type-1
#7
Kiyomi Horiuchi, Momoko Sakurai, Kento Haniu, Erin Nagai, Hiroki Tokumitsu, Yusaku Yoshida, Yoko Omi, Akiko Sakamoto, Takahiro Okamoto
BACKGROUND: Whether total parathyroidectomy (TPTX) or subtotal parathyroidectomy (SPTX) should be performed for primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia type 1 (MEN1) is controversial. At our institution, the parathyroidectomy strategy is based on the number of enlarged intraoperative parathyroid glands. We retrospectively analyzed our parathyroidectomy procedures. METHODS: Data of PHPT treatment in patients with MEN1 who underwent parathyroidectomy from 1982 to 2012 at our department were retrospectively collected...
November 14, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29136674/familial-hyperparathyroidism-disorders-of-growth-and-secretion-in-hormone-secretory-tissue
#8
Stephen J Marx, Delmar Muniz Lourenco
Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes. It requires urgent total parathyroidectomy in infancy. It usually reflects biallelic inactivation of the CASR...
November 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29134609/expression-of-p27-kip1-and-p18-ink4c-in-human-multiple-endocrine-neoplasia-type-1-related-pancreatic-neuroendocrine-tumors
#9
E B Conemans, G M Raicu-Ionita, C R C Pieterman, K M A Dreijerink, O M Dekkers, A R Hermus, W W de Herder, M L Drent, A N A van der Horst-Schrivers, B Havekes, P H Bisschop, G J Offerhaus, I H M Borel Rinkes, G D Valk, H Th M Timmers, M R Vriens
PURPOSE: Pancreatic neuroendocrine tumors are a major manifestation of multiple endocrine neoplasia type 1 (MEN1). This tumor syndrome is caused by germline mutations in MEN1, encoding menin. Insight into pathogenesis of these tumors might lead to new biomarkers and therapeutic targets for these patients. Several lines of evidence point towards a role for p27(Kip1) and p18(Ink4c) in MEN1-related tumor development in animal models for MEN1, but their contribution to human MEN1-related pancreatic neuroendocrine tumor development is not known...
November 13, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29128174/health-related-quality-of-life-in-men1-patients-compared-with-other-chronic-conditions-and-the-united-states-general-population
#10
Benjamin J Peipert, Sneha Goswami, Susan E Yount, Cord Sturgeon
BACKGROUND: Health-related quality of life (HRQOL) in multiple endocrine neoplasia type-1 (MEN-1) is poorly described. HRQOL in MEN-1 was compared with other chronic conditions and the US general population. METHODS: Adults aged ≥18 years recruited from an MEN-1 support group (n=153) completed the Patient-Reported Outcomes Measurement Information System (PROMIS) 29-item profile. MEN-1 scores were compared with PROMIS scores reported in peer-reviewed literature from back pain (n=218), cancer (n=310), congestive heart failure (CHF; n=60), chronic obstructive pulmonary disease (COPD; n=79), major depressive disorder (n=196), rheumatoid arthritis (RA; n=521), neuroendocrine tumors (NET; n=619), and primary hyperparathyroidism (PHPT; n=45) cohorts...
November 8, 2017: Surgery
https://www.readbyqxmd.com/read/29097378/men1-gene-mutation-with-parathyroid-carcinoma-first-report-of-a-familial-case
#11
Luigia Cinque, Angelo Sparaneo, Antonio S Salcuni, Danilo de Martino, Claudia Battista, Francesco Logoluso, Orazio Palumbo, Roberto Cocchi, Evaristo Maiello, Paolo Graziano, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani, Vito Guarnieri
BACKGROUND: The occurrence of parathyroid carcinoma in multiple endocrine neoplasia type I (MENI) is rare and the 15 cases of malignant parathyroid tumor reported so far have been associated with MENI in individuals and not with multiple members within a family. METHODS: We report on a 61-year-old male, operated for a 7.3 cm parathyroid carcinoma infiltrating the esophagus. In his brother, a 4.6 cm parathyroid carcinoma was diagnosed histologically, while in the daughter, neck ultrasonography revealed 2 extrathyroidal nodules, yet to be excised...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29092957/molecular-characterisation-of-metastatic-pancreatic-neuroendocrine-tumours-pnets-using-whole-genome-and-transcriptome-sequencing
#12
Hui-Li Wong, Kevin C Yang, Yaoqing Shen, Eric Y Zhao, Jonathan M Loree, Hagen F Kennecke, Steve E Kalloger, Joanna M Karasinska, Howard J Lim, Andrew J Mungall, Xiaolan Feng, Janine M Davies, Kasmintan Schrader, Chen Zhou, Aly Karsan, Steven Jm Jones, Janessa Laskin, Marco A Marra, David F Schaeffer, Sharon M Gorski, Daniel J Renouf
Pancreatic neuroendocrine tumours (PNETs) are a genomically and clinically heterogeneous group of pancreatic neoplasms often diagnosed with distant metastases. Recurrent somatic mutations, chromosomal aberrations and gene expression signatures in PNETs have been described, but the clinical significance of these molecular changes is still poorly understood, and the clinical outcomes of PNET patients remain highly variable. To help identify the molecular factors that contribute to PNET progression and metastasis, and as part of an ongoing clinical trial at the BC Cancer Agency (clinicaltrials...
November 1, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29075857/preoperative-imaging-overestimates-the-tumor-size-in-pancreatic-neuroendocrine-neoplasms-associated-with-multiple-endocrine-neoplasia-type-1
#13
V Polenta, E P Slater, P H Kann, M B Albers, J Manoharan, A Ramaswamy, A H Mahnken, D K Bartsch
BACKGROUND: Radiological tumor size of non-functioning pancreatic neuroendocrine neoplasms (Nf-pNENs) associated with multiple endocrine neoplasia type 1 (MEN1) is a crucial parameter to indicate surgery. The aim of this study was to compare radiological size (RS) and pathologic size (PS) of MEN1 associated with pNENs. METHODS: Prospectively collected data of MEN1 patients who underwent pancreatic resections for pNENs were retrospectively analyzed. RS was defined as the largest tumor diameter measured on endoscopic ultrasound (EUS), magnetic resonance imaging (MRI) or computed tomography (CT)...
October 26, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29070772/coexisting-thymic-and-pulmonary-carcinoid-tumors-associated-with-multiple-endocrine-neoplasia-type1
#14
Makoto Motoishi, Kanna Horimoto, Kazuki Hayashi, Satoru Sawai, Koki Moriyoshi
An anterior mediastinal tumor was detected in a 45-year-old female during a medical checkup. Chest computed tomography (CT) showed the anterior mediastinal tumor and a pulmonary tumor in the right lower lobe. Furthermore, tumors of the parathyroid gland, pancreas, and pituitary gland were also detected. She was clinically diagnosed with multiple endocrine neoplasia type1 (MEN1). The patient underwent extended thymectomy combined with mediastinal lymph node dissection and wedge resection of the lung including the right pulmonary lesion via a median sternotomy...
October 26, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29066490/novel-germline-p-gly42val-men1-mutation-in-a-family-with-multiple-endocrine-neoplasia-type-1-excellent-response-of-prolactinoma-to-cabergoline
#15
Viktoria F Koehler, Kerstin Jungheim, Ute Groß, Donato Iacovazzo, Alexander Mann, Márta Korbonits
We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic neuroendocrine tumour as well as a pituitary macroadenoma with significantly elevated prolactin levels. The patient underwent three-gland parathyroidectomy, a left pancreatectomy, and received dopamine agonist treatment. Genetic testing revealed a novel germline heterozygote missense mutation in the MEN1 gene (p...
September 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29039523/analysis-of-men1-c-482g-a-p-gly161asp-mutation-in-a-pedigree-with-familial-multiple-endocrine-neoplasia-type-1
#16
Yuanyuan Luo, Yongxiang Sun, Xiaofan Zhu, Xialian Li
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, which in turn are caused by mutations in the MEN1 gene. In the present study, a case of a 46‑year‑old woman who was clinically diagnosed with MEN1 based on the presence of prolactinoma and bilateral parathyroid adenoma was reported. The patient's serum prolactin (PRL) levels were successfully controlled via bromocriptine therapy, and the serum levels of calcium and intact parathyroid hormone (PTH) reduced one day following parathyroidectomy...
December 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29036195/mutational-and-large-deletion-study-of-genes-implicated-in-hereditary-forms-of-primary-hyperparathyroidism-and-correlation-with-clinical-features
#17
Elena Pardi, Simona Borsari, Federica Saponaro, Fausto Bogazzi, Claudio Urbani, Stefano Mariotti, Francesca Pigliaru, Chiara Satta, Fabiana Pani, Gabriele Materazzi, Paolo Miccoli, Lorena Grantaliano, Claudio Marcocci, Filomena Cetani
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations...
2017: PloS One
https://www.readbyqxmd.com/read/29034888/generation-of-two-men1-knockout-lines-from-a-human-embryonic-stem-cell-line
#18
Yanli Liu, Aynisahan Ruzi, Dongsheng Guo, Feima Wu, Haikun Liu, Han Wu, Yuhang Wu, Fang Yuan, Yuanqi Zhuang, Fan Yang, Keyu Lai, Liangxue Lai, Yin-Xiong Li
The MEN1 gene is cytogenetically located at 11q13.1 and encodes the nuclear protein menin, which is involved in cell proliferation, apoptosis, differentiation, and metabolism. Here, we generated two MEN1 knockout human embryonic stem cell lines, WAe001-A-4 and WAe001-A-5, by targeting exon-2 and exon-9 of MEN1 using the CRISPR/Cas9 technique. These cell lines maintained their pluripotency, in vitro differentiation potential, normal morphology, and karyotype. These human MEN1-mutated cell lines not only enlarge the pool of lab resources but also provide ideal models to dissect the detailed physio-pathological roles of the menin protein...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29019150/the-zollinger-ellison-syndrome-is-there-a-role-for-somatostatin-analogues-in-the-treatment-of-the-gastrinoma
#19
REVIEW
Valentina Guarnotta, Chiara Martini, Maria Vittoria Davì, Genoveffa Pizza, Annamaria Colao, Antongiulio Faggiano
PURPOSE: Analyze the role of somatostatin analogues (SSAs) in the treatment of sporadic and MEN1-related gastrinomas, trying to define whether recent trials have changed the landscape of gastrinoma therapy. METHODS: We evaluate the rationale of SSA use in the treatment of gastrinomas, summarize the current literature concerning the effect of SSAs on the control of Zollinger-Ellison syndrome (ZES) and gastrinomas tumor progression and discuss their role in the most recent guidelines...
October 10, 2017: Endocrine
https://www.readbyqxmd.com/read/28991228/deletion-of-menin-in-craniofacial-osteogenic-cells-in-mice-elicits-development-of-mandibular-ossifying-fibroma
#20
S Lee, P Liu, R Teinturier, J Jakob, M Tschaffon, A Tasdogan, R Wittig, S Hoeller, D Baumhoer, L Frappart, S Vettorazzi, P Bertolino, C Zhang, J Tuckermann
Ossifying fibroma (OF) is a rare benign tumor of the craniofacial bones that can reach considerable and disfiguring dimensions if left untreated. Although the clinicopathological characteristics of OF are well established, the underlying etiology has remained largely unknown. Our work indicates that Men1-a tumor suppressor gene responsible of Multiple endocrine neoplasia type 1-is critical for OF formation and shows that mice with targeted disruption of Men1 in osteoblasts (Men1(Runx2Cre)) develop multifocal OF in the mandible with a 100% penetrance...
October 9, 2017: Oncogene
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