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Multiple Endocrine Neoplasia Type 1

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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/29725435/uncovering-the-heterogeneous-genetic-variations-in-two-insulin-expressing-tumors-in-a-patient-with-men1
#2
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/29698969/endoscopic-ultrasound-features-of-multiple-endocrine-neoplasia-type-1-related-versus-sporadic-pancreatic-neuroendocrine-tumors-a-single-center-retrospective-study
#3
Gianluca Tamagno, Vanessa Scherer, Alberto Caimo, Simona R Bergmann, Peter H Kann
AIM: Pancreatic neuroendocrine tumors (pNETs) can occur in patients with a familial syndrome either as multiple endocrine neoplasia type 1 (MEN-1) or as sporadic tumors. Endoscopic ultrasound (EUS) has become one of the first-line investigations for pNET characterization. The ultrasonographic features of pNETs may differ depending on the familial versus sporadic pathogenesis of the tumor. Therefore, the EUS findings could help and direct the definition of a pNET with an impact on the most appropriate diagnostic and therapeutic patient management...
April 26, 2018: Digestion
https://www.readbyqxmd.com/read/29677893/re-multiple-endocrine-neoplasia-type-1
#4
Dean G Assimos
No abstract text is available yet for this article.
May 2018: Journal of Urology
https://www.readbyqxmd.com/read/29663329/prophylactic-thyroidectomy-in-children-with-multiple-endocrine-neoplasia-type-2
#5
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/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#6
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/29652683/a-case-report-of-recurrent-severe-peripartum-cardiomyopathy-complicated-by-factor-v-leiden-and-multiple-endocrine-neoplasia-type-1-a-management-conundrum
#7
Amanda M Kleiman, Jessica L Sheeran, Mohamed Tiouririne
Cardiovascular disease is the leading cause of peripartum death in the United States during pregnancy. The presence of concomitant diagnoses may complicate or conflict with the management of the primary cardiovascular diagnosis and further complicate pregnancy and delivery. We describe the management of a 29-year-old, gravida 5, para 1 woman with severe peripartum cardiomyopathy during this and a previous pregnancy complicated by multiple endocrine neoplasia type and factor V Leiden thrombophilia, limiting therapeutic options and contributing to considerable perioperative management challenges...
April 15, 2018: A&A practice
https://www.readbyqxmd.com/read/29650809/-molecular-targeted-therapies-for-hereditary-cancer-syndrome
#8
Hideki Shimodaira
Development of molecular targeted drugs has achieved remarkable improvement of systemic cancer therapy. Recently, the several molecular targeted drugs have become available which associated with the status of responsible genes for hereditary cancer syndrome. These drugs would allow to establish specific strategy for hereditary cancer syndrome or sporadic cancers with similar biological phenotype with hereditary cancer. Genetic tests for the diagnosis of hereditary cancer syndrome will have the meaning of biomarker for predicting the efficacy of these molecular targeted drugs...
April 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29623209/concurrent-primary-hyperparathyroidism-and-pheochromocytoma-in-a-chinese-lady-with-neurofibromatosis-type-1
#9
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/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
#10
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
#11
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...
April 3, 2018: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/29607201/clinical-implication-of-men1-mutation-in-surgically-resected-thymic-carcinoid-patients
#12
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/29592980/metastatic-pheochromocytoma-in-men-2a-a-rare-association
#13
Rimesh Pal, Ashu Rastogi, Santosh Kumar, Anil Bhansali
A 45-year-old woman was diagnosed as having multiple endocrine neoplasia type 2A in 2014. She had bilateral pheochromocytoma, medullary thyroid carcinoma and biopsy-proven cutaneous lichen amyloidosis in the interscapular area. She underwent bilateral adrenalectomy; following which, she achieved clinical and biochemical remission. She was planned for total thyroidectomy at a later date; however, she was lost to follow-up. She presented to us again in December 2016 with abdominal pain. Examination revealed hypertension with postural drop...
March 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29517561/prospective-evaluation-of-results-of-reoperation-in-zollinger-ellison-syndrome
#14
Jeffrey A Norton, Geoffrey W Krampitz, George A Poultsides, Brendan C Visser, Douglas L Fraker, H Richard Alexander, Robert T Jensen
OBJECTIVE: To determine the role of reoperation in patients with persistent or recurrent Zollinger-Ellison Syndrome (ZES). BACKGROUND: Approximately, 0% to 60% of ZES patients are disease-free (DF) after an initial operation, but the tumor may recur. METHODS: A prospective database was queried. RESULTS: A total of 223 patients had an initial operation for possible cure of ZES and then were subsequently evaluated serially with cross sectional imaging-computed tomography, magnetic resonance imaging, ultrasound, more recently octreoscan-and functional studies for ZES activity...
April 2018: Annals of Surgery
https://www.readbyqxmd.com/read/29515410/successful-salvage-chemotherapy-with-streptozocin-in-a-patient-with-mediastinal-atypical-carcinoid-tumor-who-had-relapsed-after-various-prior-therapies
#15
Toshirou Fukushima, Daisuke Gomi, Noriko Seno, Takahiko Gibo, Takashi Kobayashi, Nodoka Sekiguchi, Hirohide Matsushita, Yoshiko Kasahara, Keiko Mamiya, Tomonobu Koizumi
Pulmonary neuroendocrine tumors are rare, and there have been very few reports regarding optimal chemotherapeutic regimens. Two molecular targeted agents, everolimus and sunitinib, have recently been shown to provide an additional treatment benefit for pulmonary neuroendocrine tumors. However, little information is available regarding the usefulness of streptozocin chemotherapy. Here, we encountered a case of relapsed and refractory mediastinal atypical carcinoid tumor associated with multiple endocrine neoplasia type 1 for various cytotoxic and molecular targeted agents...
January 2018: Case Reports in Oncology
https://www.readbyqxmd.com/read/29498920/update-on-the-clinicopathology-of-pituitary-adenomas
#16
Chung Thong Lim, Márta Korbonits
Pituitary adenomas are the third most common central nervous system tumours and arise from the anterior pituitary within the pituitary fossa. The signs and symptoms of patients with pituitary adenomas vary from 'mass effects' caused by a large adenoma to features secondary to excess pituitary hormones produced by the functioning pituitary adenoma. Detailed histopathological assessment, based on novel classifications and the latest WHO guidelines, helps to categorise pituitary adenomas into different subtypes and identify features that, in some cases, help to predict their behaviour...
March 2, 2018: Endocrine Practice
https://www.readbyqxmd.com/read/29497973/multiple-endocrine-neoplasia-type-1-analysis-of-germline-men1-mutations-in-the-italian-multicenter-men1-patient-database
#17
Francesca Marini, Francesca Giusti, Caterina Fossi, Federica Cioppi, Luisella Cianferotti, Laura Masi, Francesca Boaretto, Stefania Zovato, Filomena Cetani, Annamaria Colao, Maria Vittoria Davì, Antongiulio Faggiano, Giuseppe Fanciulli, Piero Ferolla, Diego Ferone, Paola Loli, Franco Mantero, Claudio Marcocci, Giuseppe Opocher, Paolo Beck-Peccoz, Luca Persani, Alfredo Scillitani, Fabiana Guizzardi, Anna Spada, Paola Tomassetti, Francesco Tonelli, Maria Luisa Brandi
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating mutations of the MEN1 gene. Currently, no direct genotype-phenotype correlation is identified. We aim to analyze MEN1 mutation site and features, and possible correlations between the mutation type and/or the affected menin functional domain and clinical presentation in patients from the Italian multicenter MEN1 database, one of the largest worldwide MEN1 mutation series published to date. METHODS: The study included the analysis of MEN1 mutation profile in 410 MEN1 patients [370 familial cases from 123 different pedigrees (48 still asymptomatic at the time of this study) and 40 single cases]...
March 1, 2018: Endocrine
https://www.readbyqxmd.com/read/29468058/a-patient-with-men1-and-end-stage-chronic-kidney-disease-due-to-alport-syndrome-decision-making-on-the-eligibility-of-transplantation
#18
Antonio Matrone, Alessandro Brancatella, Piero Marchetti, Enrico Vasile, Ugo Boggi, Rossella Elisei, Filomena Cetani, Claudio Marcocci, Paolo Vitti, Francesco Latrofa
Absence of neoplastic disease in the organ-recipient is required in order to allow organ transplantation. Due to its rarity, no data regarding management of patients with Multiple endocrine neoplasia type 1 (MEN1) and end-stage renal failure candidates for kidney transplantation are available. A 36 year-old man was referred to the present hospital with MEN1, with a neuroendocrine pancreatic tumor and primary hyperparathyroidism and associated Alport syndrome with end stage renal failure. The present study aimed to establish the eligibility of the patient for a kidney transplantation...
March 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29467239/frequency-and-consequence-of-the-recurrent-yy1-p-t372r-mutation-in-sporadic-insulinomas
#19
LETTER
Vaishali I Parekh, Sita D Modali, James Welch, William F Simonds, Lee S Weinstein, Electron Kebebew, Sunita K Agarwal
No abstract text is available yet for this article.
May 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29457255/pregnancy-on-vandetanib-in-metastatic-medullary-thyroid-carcinoma-associated-with-multiple-endocrine-neoplasia-type-2b
#20
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
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