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Endocrine-related Cancer

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https://www.readbyqxmd.com/read/28824003/men4-and-cdkn1b-mutations-the-latest-of-the-men-syndromes
#1
Rami Alrezk, Fady Hannah-Shmouni, Constantine A Stratakis
Multiple endocrine neoplasia (MEN) refers to a group of autosomal dominant disorders with generally high penetrance that lead to the development of a wide spectrum of endocrine and non-endocrine manifestations. The most frequent among these conditions is MEN type 1 (MEN1), which is caused by germline heterozygous loss-of-function mutations in the tumor suppressor gene MEN1. MEN1 is characterized by primary hyperparathyroidism (PHPT) and functional or nonfunctional pancreatic neuroendocrine tumors and pituitary adenomas...
August 19, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28821573/dynamic-risk-stratification-in-the-follow-up-of-thyroid-cancer
#2
Jolanta Krajewska, Ewa Chmielik, Barbara Jarzab
The adequate risk stratification in thyroid carcinoma, is crucial to avoid on one hand the overtreatment of low-risk and on the other hand the undertreatment of high-risk patients. The question how to properly assess the risk of relapse has been discussed during recent years and resulted in a substantial change in our approach to risk stratification in differentiated thyroid cancer, proposed by the newest ATA guidelines. First initial risk stratification, based on histopathological data is carried out just after primary surgery...
August 18, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28814452/medical-ovariectomy-in-menopausal-breast-cancer-patients-with-high-testosterone-levels
#3
Giorgio Secreto, Paola Muti, Milena Sant, Elisabetta Meneghini, Vittorio Krogh
Five years of adjuvant therapy with anti-estrogens reduce the incidence of disease progression by about 50% in estrogen receptor-positive breast cancer patients, but late relapse can still occur after that anti-estrogens have been discontinued. In these patients, excessive androgen production may account for renewed excessive estrogen formation and increased risk of late relapse. In the 50% of patients who do not benefit with anti-estrogens, the effect of therapy is limited by de novo or acquired resistance to treatment...
August 16, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28814451/androgen-deprivation-and-immunotherapy-for-the-treatment-of-prostate-cancer
#4
Melissa Gamat, Douglas G McNeel
Prostate cancer is the most common newly diagnosed malignancy in men, and the second most common cause of cancer-related death in the United States. The primary treatment for recurrent prostate cancer is androgen deprivation, and this therapy is typically continued life-long for patients with metastatic prostate cancer. Androgens and androgen deprivation have profound effects on the immune system, a finding that has become more appreciated in an era where immune-based treatments for cancer are being increasingly explored...
August 16, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811300/epigenetic-regulation-by-the-menin-pathway
#5
Zijie Feng, Jian Ma, Xianxin Hua
There is a trend of increasing prevalence of neuroendocrine tumors (NETs), and the inherited multiple endocrine neoplasia type 1 (MEN1) syndrome serves as a genetic model to investigate how NETs develop and the underlying mechanisms. Menin, encoded by the MEN1 gene, at least partly acts as a scaffold protein by interacting with multiple partners to regulate cellular homeostasis of various endocrine organs. Menin has multiple functions including regulating several important signaling pathways by controlling gene transcription...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811299/twenty-years-of-menin-emerging-opportunities-for-restoration-of-transcription-in-men1
#6
Koen M A Dreijerink, Marc Timmers, Myles Brown
Since the discovery of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997, elucidation of the molecular function of its protein product, menin, has been a challenge. Biochemical, proteomics, genetics and genomics approaches have identified various potential roles, which converge on gene expression regulation. The most consistent findings show that menin connects transcription factors and chromatin modifying enzymes, in particular the histone H3K4 methyltransferase complexes MLL1 and MLL2. Chromatin immunoprecipitation combined with next generation sequencing has enabled studying genome-wide dynamics of chromatin binding by menin...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811298/the-future-surgical-advances-in-men1-therapeutic-approaches-and-management-strategies
#7
Samira Mercedes Sadowski, Guillaume Cadiot, Eric Dansin, Pierre Goudet, Frédéric Triponez
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary autosomal dominant disorder associated with numerous neuroendocrine tumors (NETs). Recent advances in the management of MEN1 have led to a decrease in mortality due to excess hormones; however, they have also led to an increase in mortality from malignancy, particularly NETs. The main challenges are to localize these tumors, to select those that need therapy because of the risk of aggressive behavior, and to select the appropriate therapy associated with minimal morbidity...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28790162/the-future-diagnostic-and-imaging-advances-in-men1-therapeutic-approaches-and-management-strategies
#8
Jerena Manoharan, Max B Albers, Detlef K Bartsch
Prospective randomized data are lacking, but current clinical expert guidelines recommend annual screening examinations, including laboratory assessments and various imaging modalities (e.g. CT, MRI, scintigraphy and EUS) for patients with multiple endocrine neoplasia type 1 (MEN1). Routine screening is proposed to detect and localize neuroendocrine manifestations as early as possible. The goal is timely intervention to improve quality of life and to increase life expectancy by preventing the development of life threatening hormonal syndromes and/or metastatic disease...
August 8, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28768698/the-future-advances-in-therapeutic-approach-and-management-strategies-for-men1
#9
Rachel S van Leeuwaarde, Joanne M de Laat, Carolina R C Pieterman, Koen M A Dreijerink, Menno Vriens, Gerlof D Valk
Multiple endocrine neoplasia type 1 is a rare autosomal inherited disorder associated with a high risk for patients to simultaneously develop tumours of the parathyroid glands, duodeno-pancreatic neuroendocrine tumors and tumors of the anterior pituitary gland. Early identification of MEN1 in patients enables presymptomatic screening of manifestations which makes timely interventions possible with the intention to prevent morbidity and mortality. Causes of death nowadays have shifted towards local or metastatic progression of malignant neuro endocrine tumors...
August 2, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28754821/the-role-of-the-tumour-microenvironment-in-immune-therapy
#10
Stephan Gasser, Lina H K Lim, Florence S G Cheung
Recent success in immunomodulating strategies in lung cancer and melanoma has prompted much enthusiasm in their potential to treat other advanced solid malignancies. However, their applications have shown variable success and are even ineffective against some tumours. The efficiency of immunotherapies relies on an immunogenic tumour microenvironment. The current field of cancer immunology has focused on understanding the interaction of cancer and host immune cells to break the state of immune tolerance and explain how molecular patterns of cytokines and chemokines affect tumour progression...
July 28, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28747387/molecular-characteristics-of-the-kcnj5-mutated-aldosterone-producing-adenomas
#11
Masanori Murakami, Takanobu Yoshimoto, Kazuhiko Nakabayashi, Yujiro Nakano, Takahiro Fukaishi, Kyoichiro Tsuchiya, Isao Minami, Ryotaro Bouchi, Kohji Okamura, Yasuhisa Fujii, Koshi Hashimoto, Ken-Ichiro Hata, Kazunori Kihara, Yoshihiro Ogawa
The pathophysiology of aldosterone-producing adenomas (APAs) has been investigated via genetic approaches and the pathogenic significance of a series of somatic mutations, including KCNJ5, has been uncovered. However, how the mutational status of an APA is associated with its molecular characteristics, including its transcriptome and methylome, has not been fully understood. This study was undertaken to explore the molecular characteristics of APAs, specifically focusing on APAs with KCNJ5 mutations as opposed to those without KCNJ5 mutations, by comparing their transcriptome and methylome status...
July 26, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28743793/animal-models-of-men-1
#12
Hermine Mohr, Natalia S Pellegata
Animal models of cancer have been instrumental in advancing our understanding of the biology of tumor initiation and progression, in studying gene function, and in performing preclinical studies aimed at testing novel therapies. Several animal models of the MEN1 syndrome have been generated in different organisms by introducing loss-of-function mutations in the orthologues of the human MEN1 gene. In this review, we will discuss MEN1 and MEN1-like models in Drosophila, mice and rats. These model systems with their specific advantages and limitations have contributed to elucidate the function of Menin in tumorigenesis, which turned out to be remarkably conserved from flies to mammals, as well as the biology of the disease...
July 25, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28733469/bone-morphogenetic-proteins-breast-cancer-and-bone-metastases-striking-the-right-balance
#13
Catherine Zabkiewicz, Jeyna Resaul, Rachel Hargest, Wen Jiang, Lin Ye
Bone morphogenetic proteins (BMPs) belong to the TGF-β super family, and are essential for regulation of foetal development, tissue differentiation and homeostasis, and a multitude of cellular functions. Naturally, this has led to the exploration of aberrance in this highly regulated system as a key factor in tumourigenesis. Originally identified for their role in osteogenesis and bone turnover, attention has been turned to the potential role of BMPs in tumour metastases to, and progression within, the bone niche...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28733468/management-impact-effects-on-quality-of-life-and-prognosis-in-men1
#14
Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. Since the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counselling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28733467/acromegaly-at-diagnosis-in-3173-patients-from-the-li%C3%A3-ge-acromegaly-survey-las-database
#15
Patrick Petrossians, Adrian F Daly, Emil Natchev, Luigi Maione, Karin Blijdorp, Mouna Sahnoun Fathallah, Renata Auriemma, Alpha M Diallo, Anna-Lena Hulting, Diego Ferone, Vaclav Hana, Silvia Filipponi, Caroline Sievers, Claudia Nogueira, Carmen Fajardo Montañana, Davide M C Carvalho, Vaclav Hana, Günter K Stalla, Marie-Lise Jaffrain-Réa, Brigitte Delemer, Annamaria A L Colao, Thierry Brue, Sebastian J C M M Neggers, Sabina Zacharieva, Philippe Chanson, Albert Beckers
Acromegaly is a rare disorder caused by chronic growth hormone (GH) hypersecretion. While diagnostic and therapeutic methods have advanced, little information exists on trends in acromegaly characteristics over time. The Liège Acromegaly Survey (LAS) database, a relational database, is designed to assess the profile of acromegaly patients at diagnosis and during long-term follow-up at multiple treatment centers. The study population consisted of 3173 acromegaly patients from ten countries; 54.5% were female...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28710117/genetic-and-epigenetic-drivers-of-neuroendocrine-tumors-net
#16
Annunziata Di Domenico, Tabea Wiedmer, Ilaria Marinoni, Aurel Perren
Neuroendocrine tumors (NET) of the gastrointestinal tract and the lung are a rare and heterogeneous group of tumors. The molecular characterization and the clinical classification of these tumors have been evolving slowly and show differences according to organs of origin. Novel technologies such as next-generation sequencing revealed new molecular aspects of NET over the last years. Notably, whole exome/genome sequencing (WES/WGS) approaches underlined the very low mutation rate of well differentiated NET of all organs compared to other malignancies, while the engagement of epigenetic changes in driving NET evolution is emerging...
July 14, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28710116/expression-and-mutational-status-of-usp8-in-tumors-causing-ectopic-acth-secretion-syndrome
#17
Luis Gustavo Pérez-Rivas, Andrea Oßwald, Thomas Knösel, Kristin Lucia, Christian Schaaf, Michael Hristov, Julia Fazel, Thomas Kirchner, Felix Beuschlein, Martin Reincke, Marily Theodoropoulou
The ectopic ACTH secretion syndrome (EAS) is the clinical consequence of the paraneoplastic secretion of ACTH by non-pituitary tumors. The mechanisms responsible for the pathogenesis of these tumors are still unknown. Recently, we and others detected hotspot heterozygous driver mutations in the gene coding for the ubiquitin-specific protease 8 (USP8) in almost half of ACTH-secreting pituitary corticotroph tumors causing Cushing's disease. Mutant USP8 was also found to stimulate proopiomelanocortin (POMC) transcription and ACTH synthesis...
July 14, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28710115/acromegaly-is-associated-with-increased-cancer-risk-a-survey-in-italy
#18
Massimo Terzolo, Giuseppe Reimondo, Paola Berchialla, Emanuele Ferrante, Elena Malchiodi, Laura De Marinis, Rosario Pivonello, Silvia Grottoli, Marco Losa, Salvatore Cannavò, Diego Ferone, Marcella Montini, Marta Bondanelli, Ernesto de Menis, Chiara Martini, Efisio Puxeddu, Antonino Velardo, Alessandro Peri, Marco Faustini-Fustini, Patrizia Tita, Francesca Pigliaru, Giulia Peraga, Giorgio Borretta, Carla Scaroni, Nicoletta Bazzoni, Antonio Bianchi, Alessandro Berton, Andreea Liliana Serban, Roberto Baldelli, Letizia Fatti, Annamaria Al Colao, Maura Arosio
It is debated if acromegalic patients have an increased risk to develop malignancies. The aim of the present study was to assess the standardized incidence ratios (SIRs) of different types of cancer in acromegaly on a large series of acromegalic patients managed in the somatostatin analogs era. It was evaluated the incidence of cancer in an Italian nationwide multicenter cohort study of 1512 acromegalic patients, 624 men and 888 women, mean age at diagnosis 45 +/- 13 years, followed-up for a mean of 10 years (12573 person-years) in respect to the general Italian population...
July 14, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28698189/a-comprehensive-review-on-men-2b
#19
Frederic Castinetti, Jeff Moley, Lois M Mulligan, Steven G Waguespack
MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases, and multiple extra-endocrine features, many of which can be quite disabling. Only few data are available in the literature. The aim of this review is to try to give further insights into the natural history of the disease and to point out the missing evidence that would help clinicians optimize the management of such patients. MEN2B is mainly characterized by the early occurrence of MTC, which led the American Thyroid Association to recommend preventive thyroidectomy before the age of 1...
July 11, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28696210/role-of-chromosomal-instability-in-cancer-progression
#20
Sarah E McClelland
Cancer cells often display chromosomal instability (CIN), a defect that involves loss or rearrangement of the cell's genetic material - chromosomes - during cell division (Lengauer, et al. 1998; McGranahan, et al. 2012). This process results in the generation of aneuploidy, a deviation from the haploid number of chromosomes, and structural alterations of chromosomes in over 90% of solid tumours and many haematological cancers (Mitelman). This trait is unique to cancer cells as normal cells in the body generally strictly maintain the correct number and structure of chromosomes...
July 10, 2017: Endocrine-related Cancer
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