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https://www.readbyqxmd.com/read/29760048/tipifarnib-inhibits-hras-driven-dedifferentiated-thyroid-cancers
#1
Brian R Untch, Vanessa Dos Anjos, Maria E R Garcia-Rendueles, Jeffrey A Knauf, Gnana P Krishnamoorthy, Mahesh Saqcena, Umeshkumar K Bhanot, Nicholas D Socci, Alan L Ho, Ronald Ghossein, James A Fagin
Of the three RAS oncoproteins, only HRAS is delocalized and inactivated by farnesyltransferase inhibitors (FTI), an approach yet to be exploited clinically. In this study, we treat mice bearing Hras-driven poorly differentiated and anaplastic thyroid cancers (Tpo-Cre/HrasG12V/p53flox/flox) with the FTI tipifarnib. Treatment caused sustained tumor regression and increased survival; however, early and late resistance was observed. Adaptive reactivation of RAS-MAPK signaling was abrogated in vitro by selective RTK (i...
May 14, 2018: Cancer Research
https://www.readbyqxmd.com/read/29726953/genetic-characterization-of-gnrh-lh-responsive-primary-aldosteronism
#2
Nadia Gagnon, Katia Caceres, Gilles Corbeil, Nada El Ghorayeb, Natasha Ludwig, Mathieu Latour, André Lacroix, Isabelle Bourdeau
Background: Recently, somatic beta-catenin mutations (CTNNB1) identified in aldosterone-producing adenomas (APA) from 3 women, were suggested to be responsible for the aberrant overexpression of LHCGR and GNRHR in the APA. Objective: To genetically characterize patients with primary aldosteronism (PA) evaluated in vivo for GnRH/LH responsive aldosterone secretion. Method: Patients with PA were evaluated in vivo to determine the possible regulation of aldosterone secretion by GnRH or LH...
May 2, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29693731/genetic-and-epigenetic-defects-at-the-gnas-locus-lead-to-distinct-patterns-of-skeletal-growth-but-similar-early-onset-obesity
#3
Patrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, Léa C Tran, Luisa de Sanctis, Francesca Elli, Javier Errea, Bruno Francou, Peter Kamenicky, Léa Linglart, Arrate Pereda, Anya Rothenbuhler, Daniele Tessaris, Susanne Thiele, Alessia Usardi, Ashley H Shoemaker, Marie-Laure Kottler, Harald Jüppner, Giovanna Mantovani, Agnès Linglart
Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations, and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and short, whereas most PPHP patients are born small. In addition to PTH resistance, PHP1A and PHP1B patients may display early-onset obesity. As early-onset and severe obesity and short stature are daily burdens for PHP1A patients, we aimed at improving knowledge on the contribution of the GNAS transcripts to fetal and postnatal growth and fat storage...
April 25, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29667626/eus-fna-in-cystic-pancreatic-lesions-where-are-we-now-and-where-are-we-headed-in-the-future
#4
REVIEW
Jose Lariño-Noia, Julio Iglesias-Garcia, Daniel de la Iglesia-Garcia, J Enrique Dominguez-Muñoz
EUS-FNA is often performed in the evaluation of Cystic Pancreatic Lesions (CPL) for a better preoperative characterization. The objective is to identify premalignant lesions as Mucinous Cystic Neoplasms, and/or a malignant transformation of them (adenocarcinoma). The role of cytological evaluation in this setting is discouraging and intracystic markers analysis, mainly CEA, lacks of a good specificity for the detection of mucinous neoplasms. New devices and approaches have emerged to overcome these problems as the cytology brush (Echobrush), the small mini-biopsy foceps, the cystoscopy and the needle Confocal LASER Endomicroscopy (nCLE), showing in some studies good rates of accuracy for distinguishing among mucinosus and non-mucinous neoplasms...
March 2018: Endoscopic Ultrasound
https://www.readbyqxmd.com/read/29660844/moray-micro-forceps-biopsy-improves-the-diagnosis-of-specific-pancreatic-cysts
#5
M Lisa Zhang, Ronald N Arpin, William R Brugge, David G Forcione, Omer Basar, Martha B Pitman
BACKGROUND: Making a specific diagnosis of pancreatic cysts preoperatively is difficult. The new disposable Moray micro forceps biopsy (MFB) device allows tissue sampling from the pancreatic cyst wall/septum and aims to improve diagnosis. This study compares the diagnostic performance of the MFB with the current conventional analysis of pancreatic cyst fluid (PCF). METHODS: A total of 48 patients sampled with MFB were identified. Cysts were classified as mucinous on PCF based on extracellular mucin/mucinous epithelium, carcinoembryonic antigen (CEA) levels ≥192 ng/mL, or KRAS/GNAS mutation...
April 16, 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29660164/high-grade-panin-presenting-with-localized-stricture-of-the-main-pancreatic-duct-a-clinicopathological-and-molecular-study-of-10-cases-suggests-a-clue-for-the-early-detection-of-pancreatic-cancer
#6
Masataka Yokode, Masayuki Akita, Kohei Fujikura, Mi-Ju Kim, Yukiko Morinaga, Seiichi Yoshikawa, Takuro Terada, Hiroshi Matsukiyo, Takuma Tajiri, Shiho Abe-Suzuki, Tomoo Itoh, Seung-Mo Hong, Yoh Zen
AIMS: This study aimed to identify the pathological features of high-grade PanIN that presents with imaging-detectable abnormalities. METHODS AND RESULTS: Ten cases of isolated, main-duct, high-grade PanIN as the primary clinical presentation were identified. All patients presented with stenosis of the main pancreatic duct, with 2 being associated with extensive upstream duct dilatation (>5 mm in diameter). Pancreatic juice cytology suggested adenocarcinoma in all 7 cases examined...
April 16, 2018: Histopathology
https://www.readbyqxmd.com/read/29605945/gnas-mutated-carcinoma-arising-from-gastric-foveolar-metaplasia-in-the-duodenum-after-9-years-of-observation
#7
Yasumasa Matsuo, Hiroyuki Yamamoto, Yoshinori Sato, Ritsuko Oikawa, Tadateru Maehata, Takashi Fujino, Naohisa Yahagi, Hiroshi Yasuda, Masayuki Takagi, Fumio Itoh
This case involved an 80-year-old man. Screening with esophagogastroduodenoscopy (EGD) in 2004 revealed Brunner's gland hyperplasia (BGH), 5 mm in size, in the duodenal bulb. The size of the lesion increased and its shape has changed since then, as detected in subsequent EGDs. The lesion had increased in size to 15 mm with a depression and biopsy specimens revealed an adenocarcinoma. The patient underwent endoscopic mucosal resection. Histopathological assessments indicated an adenocarcinoma arising from gastric foveolar metaplasia (GFM) adjacent to BGH...
March 31, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#8
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29594118/the-many-faces-of-primary-aldosteronism-and-cushing-syndrome-a-reflection-of-adrenocortical-tumor-heterogeneity
#9
REVIEW
Ozgur Mete, Kai Duan
Adrenal cortical tumors constitute a heterogeneous group of neoplasms with distinct clinical, morphological, and molecular features. Recent discoveries of specific genotype-phenotype correlations in adrenal cortical adenomas have transformed our understanding of their respective endocrine syndromes. Indeed, a proportion of patients with primary aldosteronism are now known to harbor adrenal cortical adenomas with heterogeneous molecular alterations ( KCNJ5, ATP1A1, ATP2B3 , and CACNA1D ) involving the calcium/calmodulin kinase signaling pathway...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29557419/intraductal-tubulopapillary-epithelial-proliferation-associated-with-type-1-autoimmune-pancreatitis
#10
Shinya Fujie, Hiroyuki Matsubayashi, Hirotoshi Ishiwatari, Hiromasa Hazama, Takaaki Ito, Keiko Sasaki, Hiroyuki Ono
A 70-year-old man was referred to our hospital with exacerbation of diabetes. His blood tests showed elevated levels of serum IgG4 and HbA1c. Computed tomography of the pancreatic body demonstrated a weakly enhanced mass, 2 cm in size, with indistinct borders. Magnetic resonance cholangiopancreatography revealed a narrowing of the main pancreatic duct (MPD) at the pancreatic body, a markedly dilated upstream duct, and a slightly dilated downstream duct. Endoscopic ultrasonography demonstrated an iso-hypoechoic heterogeneous mass, protruding and spreading in the pancreatic duct...
March 2018: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/29530879/polycystin-1-loss-of-function-is-directly-linked-to-an-imbalance-in-g-protein-signaling-in-the-kidney
#11
Bo Zhang, Uyen Tran, Oliver Wessely
The development of the kidney relies on the establishment and maintenance of a precise tubular diameter of its functional units, the nephrons. This process is disrupted in polycystic kidney disease (PKD), resulting in dilations of the nephron and renal cyst formation. In the course of exploring G-protein-coupled signaling in the Xenopus pronephric kidney, we discovered that loss of the G-protein α subunit, Gnas, results in a PKD phenotype. Polycystin 1, one of the genes mutated in human PKD, encodes a protein resembling a G-protein-coupled receptor...
March 22, 2018: Development
https://www.readbyqxmd.com/read/29499646/what-to-consider-when-pseudohypoparathyroidism-is-ruled-out-ippsd-and-differential-diagnosis
#12
Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations...
March 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29498920/update-on-the-clinicopathology-of-pituitary-adenomas
#13
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/29491831/species-specific-5-mc-and-5-hmc-genomic-landscapes-indicate-epigenetic-contribution-to-human-brain-evolution
#14
Andy Madrid, Pankaj Chopra, Reid S Alisch
Human evolution from non-human primates has seen substantial change in the central nervous system, with the molecular mechanisms underlying human brain evolution remaining largely unknown. Methylation of cytosine at the fifth carbon (5-methylcytosine; 5 mC) is an essential epigenetic mark linked to neurodevelopment, as well as neurological disease. The emergence of another modified form of cytosine (5-hydroxymethylcytosine; 5 hmC) that is enriched in the brain further substantiates a role for these epigenetic marks in neurodevelopment, yet little is known about the evolutionary importance of these marks in brain development...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29488004/-the-activating-gnas-mutation-a-survey-of-fibrous-dysplasia-its-associated-syndromes-and-other-skeletal-and-extraskeletal-lesions
#15
REVIEW
H Ostertag, S Glombitza
Fibrous dysplasia of bone is a connatal but not hereditary disease with monostotic or polyostotic manifestations and may be associated either with the extraskeletal disease McCune-Albright syndrome or with myxoma of the skeletal muscle, termed Mazabraud syndrome.The confirmation of recurrent chromosomal aberrations may lead to the conclusion that fibrous dysplasia is a neoplasia rather than a dysplastic skeletal disease.The primary cause of all forms of the described diseases is the activating GNAS mutation, which is detectable in almost all lesions...
March 2018: Der Pathologe
https://www.readbyqxmd.com/read/29474559/genomic-alterations-and-complex-subclonal-architecture-in-sporadic-gh-secreting-pituitary-adenomas
#16
Mirella Hage, Say Viengchareun, Erika Brunet, Chiara Villa, Dominique Pineau, Jérôme Bouligand, Jean-Paul Teglas, Clovis Adam, Fabrice Parker, Marc Lombès, Gérard Tachdjian, Stéphane Gaillard, Philippe Chanson, Lucie Tosca, Peter Kamenický
Purpose: The molecular pathogenesis of growth hormone-secreting pituitary adenomas is not fully understood. Cytogenetic alterations might serve as alternative driver events in GNAS mutation-negative somatotroph tumors. Experimental Design: We performed cytogenetic profiling of pituitary adenomas obtained from 39 patients with acromegaly and four patients with sporadic gigantism by using array comparative genomic hybridization analysis. We explored intratumor DNA copy-number heterogeneity in two tumor samples by using DNA fluorescence in situ hybridization (FISH)...
May 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29471062/constitutive-stimulatory-g-protein-activity-in-limb-mesenchyme-impairs-bone-growth
#17
Anara Karaca, Vijayram Reddy Malladi, Yan Zhu, Olta Tafaj, Elena Paltrinieri, Joy Y Wu, Qing He, Murat Bastepe
GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature. Enhanced signaling of the parathyroid hormone/parathyroid hormone-related peptide receptor, which couples to multiple G proteins including Gsα, leads to short bones with delayed endochondral ossification. It has remained unknown whether constitutive Gsα activity also impairs bone growth...
May 2018: Bone
https://www.readbyqxmd.com/read/29464731/progressive-osseous-heteroplasia-caused-by-a-mosaic-gnas-mutation
#18
LETTER
Arrate Pereda, Jose Maria Martos-Tello, Intza Garin, Javier Errea-Dorronsoro, Guiomar Perez de Nanclares
No abstract text is available yet for this article.
February 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29449271/targeted-therapies-for-targeted-populations-anti-egfr-treatment-for-egfr-amplified-gastroesophageal-adenocarcinoma
#19
Steven B Maron, Lindsay Alpert, Heewon A Kwak, Samantha Lomnicki, Leah Chase, David Xu, Emily O'Day, Rebecca J Nagy, Richard B Lanman, Fabiola Cecchi, Todd Hembrough, Alexa Schrock, John Hart, Shu-Yuan Xiao, Namrata Setia, Daniel V T Catenacci
Previous anti-EGFR trials in unselected patients with gastroesophageal adenocarcinoma (GEA) were resoundingly negative. We identified EGFR amplification in 5% (19/363) of patients at the University of Chicago, including 6% (8/140) who were prospectively screened with intention-to-treat using anti-EGFR therapy. Seven patients received ≥1 dose of treatment: three first-line FOLFOX plus ABT-806, one second-line FOLFIRI plus cetuximab, and three third/fourth-line cetuximab alone. Treatment achieved objective response in 58% (4/7) and disease control in 100% (7/7) with a median progression-free survival of 10 months...
February 15, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29445425/mosaicism-for-gnas-methylation-defects-associated-with-pseudohypoparathyroidism-type-1b-arose-in-early-post-zygotic-phases
#20
Francesca Marta Elli, Paolo Bordogna, Maura Arosio, Anna Spada, Giovanna Mantovani
Background: Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlying primary genetic lesions, could represent true stochastic errors in early embryonic maintenance of methylation. Previous data confirmed the existence of different degrees of methylation defects associated with PHP1B and suggested the presence of mosaicism, a phenomenon already described in the context of other IDs...
2018: Clinical Epigenetics
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