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Endocrine-related Cancer

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https://www.readbyqxmd.com/read/28533356/loss-of-function-mutations-in-the-cables1-gene-are-a-novel-cause-of-cushing-s-disease
#1
Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya Lodish, Nathan Pankratz, Aurélio Balsalobre, Yves Gauthier, Fabio R Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M Kay, Aggeliki Dimopoulou, Stephane Gaillard, Mario Neou, Jerome Bertherat, Guillaume Assié, Chiara Villa, James L Mills, Jacques Drouin, Constantine A Stratakis
The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations...
May 22, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28515047/centrosome-amplification-a-suspect-in-breast-cancer-and-racial-disparities
#2
Angela Ogden, Padmashree C G Rida, Ritu Aneja
The multifaceted involvement of centrosome amplification (CA) in tumorigenesis is coming into focus following years of meticulous experimentation, which have elucidated the powerful abilities of CA to promote cellular invasion, disrupt stem cell division, drive chromosomal instability (CIN), and perturb tissue architecture, activities that can accelerate tumor progression. Integration of the extant in vitro, in vivo, and clinical data suggests that in some tissues CA may be a tumor-initiating event, in others a consequential "hit" in multistep tumorigenesis, and in still others non-tumorigenic...
May 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28515046/kif1b-and-nf1-are-the-most-frequently-mutated-genes-in-paraganglioma-tumors
#3
Lucie Evenepoel, Raphaël Helaers, Laurent Vroonen, Selda Aydin, Marc Hamoir, Dominique Maiter, Miikka Vikkula, Alexandre Persu
Dear Editor, Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Forty percent are explained by germline mutations in known susceptibility genes. Furthermore, somatic mutations were identified in an additional 30% of PPGL, mostly in NF1, RET, VHL, MAX, and HRAS. However, screening is limited to a few studies mainly using Sanger sequencing (Burnichon, et al. 2012; Burnichon, et al. 2011; Crona, et al. 2013; Luchetti, et al...
May 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28512158/association-between-changes-in-fat-distribution-and-biomarkers-for-breast-cancer
#4
Willemijn A van Gemert, Evelyn Monninkhof, Anne M May, Sjoerd G Elias, Job van der Palen, Wouter Veldhuis, Maaike Stapper, Rebecca K Stellato, Jantina A Schuit, Petra H M Peeters
We assessed the associations between changes in total and abdominal fat and changes in biomarkers for breast cancer risk using data of the SHAPE-2 trial. In the SHAPE-2 trial, 243 postmenopausal overweight women were included. The intervention in this trial consisted of 5-6 kg weight loss either by diet only or exercise plus diet. After 16 weeks, we measured serum sex hormones, inflammatory markers, total body fat (measured by DEXA scan) and intra and subcutaneous abdominal fat (measured by MRI). Associations between changes in different body fat depots and biomarkers were analysed by linear regression using the study cohort irrespective of randomization in order to make maximal use of the distribution of changes in fat measures...
May 16, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28500238/sdha-mutated-paragangliomas-may-be-at-high-risk-of-metastasis
#5
Nicola Tufton, Rahul Ghelani, Umasuthan Srirangalingam, V K Ajith Kumar, William Drake, Donato Iacovazzo, Kassiani Skordilis, Daniel M Berney, Ma'en Al-Mrayat, Bernard Khoo, Scott Akker
We report the clinical outcomes of eleven patients with succinate dehydrogenase subunit A (SDHA) germline mutations from three UK tertiary referral centres to highlight a more diverse and expanding clinical spectrum of associated phenotypes. We suggest that SDHA paraganglioma related disease is not a low risk condition as first described. Of our six index cases, two developed metastatic disease and a further one had local vascular invasion. One patient developed multiple metachronous disease. Therefore, we believe these patients, like those with SDHB & SDHD mutations, should be part of a surveillance programme...
May 12, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28487351/gestational-high-fat-diet-and-bisphenol-a-exposure-heightens-mammary-cancer-risk
#6
Yuet-Kin Leung, Vinothini Govindarajah, Ana Cheong, Jen Veevers, Dan Song, Robin Gear, Xuegong Zhu, Jun Ying, Ady Kendler, Mario Medvedovic, Scott Belcher, Shuk-Mei Ho
In utero exposure to bisphenol A (BPA) increases mammary cancer susceptibility in offspring. High fat diet is widely believed to be a risk factor of breast cancer. The objective of this study was to determine whether maternal exposure to BPA in addition to high-butterfat (HBF) intake during pregnancy further impacts carcinogen-induced mammary cancer risk in offspring, and its dose-response curve. In this study, we found that gestational HBF intake in addition to a low-dose BPA (25 µg/kg BW/day) exposure increased mammary tumor incidence in a 50-day-of-age chemical carcinogen administration model and altered mammary gland morphology in offspring in a non-monotonic manner, while shortening tumor-free survival time compared with the HBF-alone group...
May 9, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28487350/combining-doxorubicin-nanobubbles-and-shockwaves-for-anaplastic-thyroid-cancer-treatment
#7
Francesca Marano, Roberto Frairia, Letizia Rinella, Monica Argenziano, Benedetta Bussolati, Cristina Grange, Raffaella Mastrocola, Isabella Castellano, Laura Berta, Roberta Cavalli, Maria Graziella Catalano
Anaplastic thyroid cancer is one of the most lethal diseases and a curative therapy does not exist. Doxorubicin, the only drug approved for anaplastic thyroid cancer treatment, has a very low response rate and causes numerous side effects among which cardiotoxicity is the most prominent. Thus, doxorubicin delivery to the tumor site could be an import goal aimed to improve drug efficacy and to reduce its systemic side effects. We recently reported that, in human anaplastic thyroid cancer cell lines, combining doxorubicin-loaded nanobubbles with extracorporeal shock waves, acoustic waves used in lithotripsy and orthopedics without side effects, increased the intracellular drug content and in vitro cytotoxicity...
May 9, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28483790/effect-of-hormone-secretory-syndromes-on-neuroendocrine-tumor-prognosis
#8
Wouter T Zandee, Kimberly Kamp, R C S van Adrichem, R A Feelders, Wouter W de Herder
The treatment of hormone hypersecretory syndromes caused by neuroendocrine tumors (NETs) can be a major challenge. NETs originating from the small intestine often secrete serotonin causing flushing, diarrhea and valve fibrosis, leading to dehydration or heart failure in severe cases. NETs from the pancreas can secrete a wider variety of hormones, like insulin, glucagon and gastrin leading to distinct clinical syndromes. Historically mortality in patients with functioning NETs was high due to the complications caused by the hypersecretion of hormones...
May 8, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28442560/obesity-and-menopause-modify-the-epigenomic-profile-of-breast-cancer
#9
Ana B Crujeiras, Angel Díaz-Lagares, Olafur A Stefansson, Manuel Macias, Juan Sandoval, Juan Cueva, Rafael López-López, Sebastian Moran, Jon G Jonasson, Laufey Tryggvadottir, Elinborg Olafsdottir, Francisco J Tinahones, Marcos C Carreira, Felipe F Casanueva, Manel Esteller
Obesity is a high risk factor for breast cancer. This relationship could be marked by a specific methylome. The current work was aimed to explore the impact of obesity and menopausal status on variation in breast cancer methylomes. Data from Infinium 450K array-based methylomes of 64 breast tumor were coupled with information on BMI and menopausal status. Additionally, DNA methylation results were validated in 18 non-tumor and 81 tumor breast samples. Breast tumors arising in either pre- or postmenopausal women stratified by BMI or menopausal status alone were not associated with a specific DNA methylation pattern...
April 25, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28442559/impact-of-27-hydroxylase-cyp27a1-and-27-hydroxycholesterol-in-breast-cancer
#10
Siker Kimbung, Chingyi Chang, Pär-Ola Bendahl, Laura Dubois, Will J Thompson, Donald P McDonnell, Signe Borgquist
The impact of systemic 27-hydroxycholesterol (27HC) and intra-tumoral CYP27A1 expression on pathobiology and clinical response to statins in breast cancer needs clarification. 27HC is an oxysterol produced from cholesterol by the monooxygenase CYP27A1, which regulates intracellular cholesterol homeostasis. 27HC also acts as an endogenous selective estrogen receptor (ER) modulator capable of increasing breast cancer growth and metastasis. 27HC levels can be modulated by statins or direct inhibition of CYP27A1, thereby attenuating its pro-tumorigenic activities...
April 25, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28438782/incidence-and-prevalence-of-multiple-endocrine-neoplasia-2b-in-denmark-a-nationwide-study
#11
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Mette Madsen, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Henrik Baymler Pedersen, Christoffer Holst Hahn, Jens Bentzen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas van Overeem Hansen, Finn Cilius Nielsen, Kim Brixen, Anja Lisbeth Frederiksen, Christian Godballe
Extract: Multiple endocrine neoplasia 2B (MEN2B) is an autosomal dominant inherited cancer syndrome associating medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), ganglioneuromatosis of the aerodigestive tract and facial, ophthalmologic and skeletal abnormalities. MEN2B is caused by the M918T and A883F mutation of the REarranged during Transfection (RET) proto-oncogene in approximately 95% and <5% of cases, respectively. Only very few other mutations have been reported to cause MEN2B. In approximately 75% of MEN2B patients, mutations occur as de novo (Wells, et al...
April 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28432084/topoisomerase2%C3%AE-and-thymidylate-synthase-expression-in-adrenocortical-cancer
#12
Elisa Roca, Alfredo Berruti, Silviu Sbiera, Ida Rapa, Ester Oneda, Paola Sperone, Cristina L Ronchi, Laura Ferrari, Salvatore Grisanti, Antonina Germano, Barbara Zaggia, Giorgio Scagliotti, Martin Fassnacht, Marco Volante, Massimo Terzolo, Mauro Papotti
Topoisomerase II alpha (TOP2A) and Thymidylate Synthase (TS) are known prognostic parameters in several tumors and also predictors of efficacy of anthracyclines, topoisomerase inhibitors and fluoropirimidines, respectively. Expression of TOP2A and TS mRNA was assessed in 98 patients with adrenocortical carcinoma (ACC) and protein expression was assessed by immunohistochemistry in a subset of 39 tumors. Ninety-two patients were radically resected for stage II-III disease and 38 of them received adjuvant mitotane...
April 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28428267/association-of-nf%C3%AE%C2%BAb-polymorphisms-with-clinical-outcome-of-non-medullary-thyroid-carcinoma
#13
Theo S Plantinga, Mirela Petrulea, Marije Oosting, Leo Joosten, Doina Piciu, Jan Wa Smit, Romana T Netea-Maier, Carmen Georgescu
The NF-κB inflammatory pathway plays a major role in cancer development and clinical progression. Activation of NF-κB signaling is promoted by NFKB1 and inhibited by NFKBIA. The present study aimed to determine the relevance of NFKB1 rs4648068 and NFKBIA rs2233406 genetic variants for non-medullary thyroid cancer (NMTC) susceptibility, progression and clinical outcome. This case-control and cohort study consists of a Romanian discovery cohort (157 patients, 258 controls) and a Dutch validation cohort (138 patients, 188 controls)...
April 20, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28420659/very-low-expression-of-pd-l1-in-medullary-thyroid-carcinoma
#14
Massimo Bongiovanni, Caterina Rebecchini, Chiara Saglietti, Jean-Luc Bulliard, Laura Marino, Laurence De Leval, Gerasimos P Sykiotis
Monoclonal antibodies that inhibit the interaction between PD1 and PD-L1 are approved for clinical use in several cancer types, and they are also in clinical trials for additional indications, including thyroid carcinomas. A few papers have reported on PD-L1 expression in thyroid carcinomas, including a recent large study by Ahn et al. in Endocrine-Related Cancer using tissue microarrays on differentiated and anaplastic thyroid carcinoma. However, the expression of PD-L1 in medullary thyroid carcinoma (MTC) has not been reported so far, even though ongoing clinical studies aim to test the effectiveness of checkpoint inhibitors in this rare histotype as well...
April 18, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28400403/molecular-imaging-in-the-investigation-of-hypoglycaemic-syndromes-and-their-management
#15
David A Pattison, Rodney J Hicks
There has been recent progress in molecular imaging using a variety of cellular targets for the investigation of adult non-diabetic hypoglycaemic syndromes and its integration into patient management. These targets include peptide receptors - somatostatin receptors (SSTR) and glucagon-like peptide-1 receptor (GLP-1R) - the Amine Precursor Uptake and Decarboxylation system utilising the diphydroxyphenylaline (DOPA) analogue 6-[18F]-L-fluoro-L-3, 4-dihydroxyphenylalanine (18F-FDOPA), and glycolytic metabolism with 2-[18F]Fluoro-2-Deoxy-D-Glucose (FDG)...
April 11, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28400402/molecular-targeted-therapies-in-adrenal-pituitary-and-parathyroid-malignancies
#16
Anna Angelousi, Georgios K Dimitriadis, Gn Zografos, Svenja Nölting, Gregory A Kaltsas, Ashley B Grossman
Tumourigenesis is a relatively common event in endocrine tissues. Currently, specific guidelines have been developed for common malignant endocrine tumours which also incorporate advances in molecular targeted therapies (MTT), as in thyroid cancer and gastrointestinal neuroendocrine malignancies. However, there is little information regarding the role and efficacy of MTT in the relatively rare malignant endocrine tumours mainly involving the adrenal medulla, adrenal cortex, pituitary and parathyroid glands...
April 11, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28389504/circulating-tumor-cells-and-mirna-as-prognostic-markers-in-neuroendocrine-neoplasms
#17
Maria Chiara Zatelli, Erika Maria Grossrubatscher, Elia Guadagno, Concetta Sciammarella, Antongiulio Faggiano, Annamaria Al Colao
The prognosis of neuroendocrine neoplasms (NENs) is widely variable and has been shown to associate with several tissue- and blood-based biomarkers in different settings. The identification of prognostic factors predicting NEN outcome is of paramount importance to select the best clinical management for these patients. Prognostic markers have been intensively investigated, also taking advantage of the most modern techniques, in the perspective of personalized medicine and appropriate resource utilization. This review summarizes the available data on the possible role of circulating tumor cells and microRNAs as prognostic markers in NENs...
April 7, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28389503/the-purine-receptor-p2x7r-regulates-release-of-pro-inflammatory-cytokines-in-human-craniopharyngioma
#18
Jing Nie, Guanglong Huang, Shengze Deng, Yun Bao, Yawei Liu, Zhanpeng Feng, Chaohu Wang, Ming Chen, Songtao Qi, Jun Pan
Craniopharyngiomas (CPs) are usually benign, non-metastasizing embryonic malformations originating from the sellar area. They are, however, locally invasive and generate adherent interfaces with the surrounding brain parenchyma. Previous studies have shown the tumor microenvironment is characterized by a local abundance of Adenosine Triphosphate (ATP), infiltration of leukocytes, and elevated levels of pro-inflammatory cytokines that are thought to be responsible, at least in part, for the local invasion. Here we examine whether ATP, via the P2X7R, participates in the regulation of cytokine expression in CPs...
April 7, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28351943/apc-but-not-obesity-synergizes-with-pten-to-drive-intestinal-stem-cell-tumors
#19
Tahmineh Tabrizian, Donghai Wang, Fangxia Guan, Zunju Hu, Amanda Beck, Fabien Delahaye, Derek M Huffman
Obesity is a major risk factor for colorectal cancer and can accelerate Lgr5+ intestinal stem cell (ISC)-derived tumorigenesis following inactivation of Apc. However, whether non-canonical pathways involving PI3K-Akt signaling in ISCs can lead to tumor formation, and if this can be further exacerbated by obesity is unknown. Despite the synergy between Pten and Apc inactivation in epithelial cells on intestinal tumor formation, their combined role in Lgr5+-ISCs, which are the most rapidly dividing ISC population in the intestine, is unknown...
March 28, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28351942/targeting-the-tsh-receptor-in-thyroid-cancer
#20
Christopher W Rowe, Jonathan Paul, Craig Gedye, Jorge Tolosa, Cino Bendinelli, Shaun McGrath, Roger Smith
Recent advances in the arena of theranostics have necessitated a re-examining of previously established fields. The existing paradigm of therapeutic thyroid stimulating hormone receptor (TSHR) targeting in the post-surgical management of differentiated thyroid cancer using levothyroxine and recombinant human thyroid stimulating hormone (TSH) is well understood. However, in an era of personalized medicine, and with an increasing awareness of the risk profile of longstanding pharmacological hyperthyroidism, it is imperative clinicians understand the molecular basis and magnitude of benefit for individual patients...
March 28, 2017: Endocrine-related Cancer
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