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Multiple Endocrine Neoplasia

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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/29579362/barriers-to-the-recognition-of-medullary-thyroid-carcinoma-on-fna-implications-relevant-to-the-new-american-thyroid-association-guidelines
#8
Kathryn S Dyhdalo, Deborah J Chute
BACKGROUND: The 2016 American Thyroid Association guidelines recommend multiple endocrine neoplasia testing and evaluation for pheochromocytoma before thyroidectomy after a thyroid fine-needle aspiration biopsy (FNA) is positive for medullary thyroid carcinoma (MTC). In the current study, the authors examined the reasons why FNA was unable to definitively diagnose MTC preoperatively, with attention to morphologic patterns that can be misleading. METHODS: Cases of MTC diagnosed on thyroid surgical resection for which there was a prior FNA and slides available for review were included (28 cases)...
March 26, 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29542870/left-ventricular-myxoma-with-carney-complex
#9
Naoto Kuyama, Yasuhiro Hamatani, Satsuki Fukushima, Yoshihiko Ikeda, Eri Nakai, Atsushi Okada, Hiroyuki Takahama, Makoto Amaki, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Tomoyuki Fujita, Hatsue Ishibashi-Ueda, Satoshi Yasuda, Toshihisa Anzai, Junjiro Kobayashi
The left ventricle is a less frequent location of cardiac myxomas overall. Meanwhile, cardiac myxomas related to Carney complex (CNC), which is a multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumours, more frequently occur in the left ventricle compared with sporadic cardiac myxomas. Herein, we report a case of a 20-year-old woman with CNC who underwent complete surgical excision of a large and mobile left ventricular myxoma. In our case, echocardiography performed 4 years earlier was normal...
March 15, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29535143/pheochromocytomas-and-pituitary-adenomas-in-three-patients-with-max-exon-deletions
#10
Adrian F Daly, Emily Castermans, Lindsey Oudijk, Mirtha A Guitelman, Pablo Beckers, Iulia Potorac, Sebastian J C M M Neggers, Nathalie Sacre, Aj Van der Lely, Vincent Bours, Wouter W de Herder, Albert Beckers
Copy number variations (CNV), an important genetic mechanism in inherited tumor genetics, can affect large genetic regions or can be limited to smaller regions within genes, such deletions of single exons. Such exon deletions can be challenging to identify and sequencing can be normal in these cases. Multiplex ligation dependent probe amplification (MLPA) can identify CNV of individual exons. Mutations in the MAX gene are associated with a risk of sporadic and hereditary pheochromocytoma. As mutations in other pheochromocytoma related genes can also cause pituitary tumors (3P-Association), we studied whether MAX exon deletions were involved in the etiology of patients with an unexplained association of multiple endocrine neoplasia including pituitary adenoma and pheochromocytoma...
March 13, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29518763/medullary-thyroid-cancer-leukemia-mesothelioma-and-meningioma-associated-with-germline-apc-and-rasal1-variants-a-new-syndrome
#11
Anna Angelousi, Nikolaos Settas, Fabio R Faucz, Charalampos Lyssikatos, Martha Quezado, Narjes Nasiri-Ansari, Constantine A Stratakis, Eva Kassi
Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations. We describe a 57-year-old female patient diagnosed with sporadic MTC. The patient had a history of other neoplasias, such as acute myeloid leukemia, for which she had received chemotherapy, and two other solid tumors, peritoneal mesothelioma and meningioma...
October 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29517561/prospective-evaluation-of-results-of-reoperation-in-zollinger-ellison-syndrome
#12
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
#13
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
#14
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
#15
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/29484475/medullary-thyroid-carcinoma-survival-analysis-and-evaluation-of-mutation-specific-immunohistochemistry-in-detection-of-sporadic-disease
#16
S Jayakody, J Reagh, M Bullock, A Aniss, R Clifton-Bligh, D Learoyd, B Robinson, L Delbridge, S Sidhu, A J Gill, M Sywak
INTRODUCTION: Medullary thyroid cancer (MTC) is a rare tumour of neuroendocrine origin with a more aggressive profile than differentiated thyroid cancer. Familial cases of MTC are associated with RET mutations whilst RAS mutations appear to be a frequent finding in RET negative tumours. The aims of this study were to analyse survival outcomes in MTC and to evaluate the role of RAS immunohistochemistry in the identification of sporadic disease. MATERIALS AND METHODS: A retrospective cohort study of consecutive patients with MTC was undertaken...
February 26, 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/29469743/treatment-of-selective-antibody-deficiency-with-ivig-resulting-in-decreased-frequency-of-streptococcal-infection-and-improvement-of-guttate-psoriasis
#17
Maulik M Dhandha, Elaine C Siegfried, Alan P Knutsen
The association between guttate psoriasis and infection with group A Streptococcus (GAS) has been well established in the medical literature. However, responses to treatments aimed at GAS eradication such as systemic antibiotics or tonsillectomy are inconsistent. Further complicating treatment recommendations for a disease with a suspected microbial trigger, the standard therapy for severe psoriasis is with systemic immunosuppressant medications. This case report illustrates the role of GAS as a trigger for acute onset severe psoriasis in a child whose skin disease initially worsened with a trial of methotrexate...
August 15, 2017: Dermatology Online Journal
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
Vaishali I Parekh, Sita D Modali, James Welch, William Simonds, Lee Scott Weinstein, Electron Kebebew, Sunita K Agarwal
Extract: Pancreatic neuroendocrine tumors (PNETs/pNETs/p-NETs/PanNETs) are rare endocrine neoplasms that can be either functioning tumors that secrete hormones characteristic of their endocrine cell of origin, or nonfunctioning tumors. The most common functioning PNETs are the insulin-secreting b-cell tumors (insulinomas) that are mainly sporadic, but may also occur in 10% of patients with the hereditary tumor syndrome multiple endocrine neoplasia type 1 (MEN1) (OMIM ID: 131100). Patients with the MEN1 syndrome carry a heterozygous germline inactivating mutation in the MEN1 tumor suppressor gene and specific somatic loss of the normal MEN1 allele, leading to endocrine tumors mainly of the parathyroids, pituitary and pancreas (PNETs)...
February 21, 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
Nicholas Thomas, John Glod, Claudia Derse-Anthony, Emma L Baple, Nigel Obsborne, Rachel Sturley, Bijay Vaidya, Kate Newbold, Antonia Brooke
Vandetanib is a tyrosine kinase inhibitor (TKI) used in the treatment of medullary thyroid carcinoma occurring in >95% of patients with multiple endocrine neoplasia type 2b (MEN 2b). Pregnancy in women with MEN 2b on vandetanib is previously unreported and has multiple potential implications for both the mother and developing fetus [1]. We describe the case of a 22 year old woman with a background of MEN 2b who was first diagnosed aged 6 presenting with marfanoid habitus, and oral mucosal neuromas. This article is protected by copyright...
February 19, 2018: Clinical Endocrinology
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