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Genomics Pathologys

Yasmine Ghantous, Zaher Bahouth, Imad Abu El-Naaj
PURPOSE: Recurrent and metastatic Oral Squamous Cell Carcinoma (OSCC) is often incurable. There are large gaps in the understanding of the clinical course, biology and genetic biomarkers of OSCC which could help us identify patients with high-risk of recurrence who may benefit from intensified therapy or novel targeted therapy trials. The purpose of this study was to identify significant clinical, pathological and genomic risk factors for local recurrence in OSCC. PATIENTS AND METHODS: Molecular data sets and clinicopathological characteristics of 159 head and neck carcinoma patients were obtained from The Cancer Genome Atlas (TCGA) data portal and analyzed using the Genome Data Analysis Center and cBioPortal to find significant risk factors for tumor recurrence...
August 6, 2018: Archives of Oral Biology
Xing Liu, Yiming Li, Zhiyan Sun, Shaowu Li, Kai Wang, Xing Fan, Yuqing Liu, Lei Wang, Yinyan Wang, Tao Jiang
The presence of contrast enhancement (CE) on magnetic resonance (MR) imaging is conventionally regarded as an indicator for tumor malignancy. However, the biological behaviors and molecular mechanism of enhanced tumor are not well illustrated. The aim of this study was to investigate the molecular profiles associated with anaplastic gliomas (AGs) presenting CE on postcontrast T1-weighted MR imaging. In this retrospective database study, RNA sequencing and MR imaging data of 91 AGs from the Cancer Genome Atlas (TCGA) and 64 from the Chinese Glioma Genome Atlas (CGGA) were collected...
August 16, 2018: Cancer Medicine
Ying He, Wen Yao, Meng Zhang, Ying Zhang, Dan Zhang, Zhuocheng Jiang, Tianyou Ma, Jian Sun, Mingming Shao, Jinghong Chen
The molecular mechanisms underlying osteoarthritis (OA) and Kashin-Beck disease (KBD) remain poorly understood. Hypertrophic chondrocytes serve an important role in the development of both OA and KBD, whereas oxidative stress can contribute to the pathological progression of cartilage damage. Therefore, the aim of the present study was to detect altered expression of osteogenesis-related genes in hypertrophic chondrocytes, following treatment with 3-morpholinosydnonimine (SIN-1). ATDC5 cells were induced to develop into hypertrophic chondrocytes via Insulin-Transferrin-Selenium...
August 2018: Experimental and Therapeutic Medicine
Tomonori Sasahira, Tadaaki Kirita
Head and neck cancer, including oral squamous cell carcinoma (OSCC), is the sixth leading malignancy worldwide. OSCC is an aggressive tumor and its prognosis has exhibited little improvement in the last three decades. Comprehensive elucidation of OSCC's molecular mechanism is imperative for early detection and treatment, improving patient survival. Based on broadly accepted notions, OSCC arises from multiple genetic alterations caused by chronic exposure to carcinogens. In 2011, research revealed 10 key alterations fundamental to cancer cell development: sustaining proliferative signaling, evading growth suppressors, avoiding immune destruction, activating invasion and metastasis, tumor-promoting inflammation, enabling replicative immortality, inducing angiogenesis, genome instability and mutation, resisting cell death, and deregulating energetics...
August 16, 2018: International Journal of Molecular Sciences
Emmanuel Bäckryd, Sofia Edström, Björn Gerdle, Bijar Ghafouri
BACKGROUND: Post-translational modifications (PTMs) generate a tremendous protein diversity from the ~ 20,000 protein-coding genes of the human genome. In chronic pain conditions, exposure to pathological processes in the central nervous system could lead to disease-specific PTMs detectable in the cerebrospinal fluid (CSF). In a previous hypothesis-generating study, we reported that seven out of 260 CSF proteins highly discriminated between neuropathic pain patients and healthy controls: one isoform of angiotensinogen (AG), two isoforms of alpha-1-antitrypsin (AT), three isoforms of haptoglobin (HG), and one isoform of pigment epithelium-derived factor (PEDF)...
August 16, 2018: BMC Neurology
S Marnitz, C Köhler, N Gharbi, S Kunze, K Jablonska, J Herter
PURPOSE: For endometrial cancer (EC), clinical and pathological risk factors are taken to triage patients and estimate their prognosis. Lymph node involvement (pN+), lymphovascular space involvement (LSVI), grading, age of the patients, and T classification are internationally accepted parameters for treatment decisions. MATERIALS AND METHODS: Studies on adjuvant radiation, chemotherapy, and chemoradiation are discussed against the background of risk stratification and clinical decision-making in early-to-advanced stage endometrial cancer...
August 15, 2018: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
Jenny A Greig, Jayme M L Nordin, Christine Draper, Deirdre McMenamin, Edward A Chroscinski, Peter Bell, John T Gray, Laura K Richman, James M Wilson
Liver metabolism disorders are attractive targets for gene therapy, because low vector doses can reverse the buildup of toxic metabolites in the blood. Crigler-Najjar syndrome is an inherited disorder of bilirubin metabolism that is caused by the absence of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) activity. This syndrome is characterized by hyperbilirubinemia and jaundice. Unfortunately, current phototherapy treatment is not effective long term. We intravenously injected phototherapy-rescued adult UGT1 knockout mice with 2...
September 21, 2018: Molecular Therapy. Methods & Clinical Development
Yaqiong Jin, Li Zhang, Baitang Ning, Huixiao Hong, Wenming Xiao, Weida Tong, Yiran Tao, Xin Ni, Tieliu Shi, Yongli Guo
Next-generation sequencing (NGS) is being used in clinical testing. Government authorities in both China and the United States are overseeing the clinical application of NGS instruments and reagents. In addition, the US Association for Molecular Pathology and the College of American Pathologists have jointly released a guidance to standardize the analysis and interpretation of NGS data involved in clinical testing. At present, the analysis strategies and pipelines for NGS data related to the clinical detection of pediatric disease are similar to those used for adult diseases...
July 16, 2018: Pediatric investigation
Xin Jin, Song-Nang Sui, Ping Xu, Yi Xin, Xiao-Li Cao, Lu-Qiao Wan, Juan-Xia Men, Wen-Yi Lu, Rui Cui, Ming-Feng Zhao
OBJECTIVE: To establish a MDS mouse model with iron overload and to study the effect of iron overload on MDS. METHODS: The exogenous mutant gene RUNX1-S291fs was inserted into the mice bone marrow mononuclear cell's genome in mice by retrovirus and transplanted into C57BL/6 mice irradiated by 60 Co γ-ray. After 8 weeks,intraperitoneal injection of iron was performed to establish an MDS mouse model with iron overload. After 24 weeks of transplantation, the peripheral blood, bone marrow, femur, liver and spleen of mice were taken, then the morphological characteristics of peripheral blood and bone marrow cells were observed by Wright's staining; the liver, spleen and bone marrow were stained with Prussian blue to observe the iron deposition...
August 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Diamantis I Tsilimigras, Amir A Rahnemai-Azar, Ioannis Ntanasis-Stathopoulos, Maria Gavriatopoulou, Demetrios Moris, Eleftherios Spartalis, Jordan M Cloyd, Sharon M Weber, Timothy M Pawlik
INTRODUCTION: Hepatic adenomas (HAs) are a benign and relatively rare type of liver neoplasms. We review the diagnosis, evaluation, and potential therapeutic management options for patients with HA. METHODS: A comprehensive review of the English literature was performed utilizing MEDLINE/PubMed and Web of Science databases with end of search date the 30th April of 2018. In PubMed, the terms "hepatocellular," "hepatic," "liver," and "adenoma," "adenomatosis" were searched in the title and/or abstract...
August 14, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
Bin Cao, Yu Zhao, Zheng Zhang, Hengcun Li, Jie Xing, Shuilong Guo, Xintao Qiu, Shutian Zhang, Li Min, Shengtao Zhu
Lauren classification is a pathology-based gastric cancer (GC) subtyping system, which is widely used in the clinical treatment of patients with GC. However, genome-scale molecular characteristics to distinguish between diffuse (DF) and intestinal (IT) GC remain incompletely characterized, particularly at the transcriptional regulatory level. In the present study, gene regulatory networks were constructed using the Passing Attributes between Networks for Data Assimilation (PANDA) algorithm for DF, IT and mixed GC...
August 9, 2018: International Journal of Oncology
Zuzana Saidak, Christophe Louandre, Samy Dahmani, Chloé Sauzay, Sara Guedda, Bruno Chauffert, Denis Chatelain, Irene Ceballos-Picot, Antoine Galmiche
Uric acid (UA) is the end product of the catabolism of purines, and its serum levels are commonly increased in cancer patients. We aimed to explore the transcriptional regulation of tumour uricogenesis in human tumours, and relate uricogenesis with tumour pathological and pharmacological findings. Using data from The Cancer Genome Atlas (TCGA), we analysed the expression levels of the enzymes Xanthine Deshydrogenase (XDH) and Adenine phosphoribosyltransferase (APRT), key enzymes in UA production and the purine salvage pathway, respectively...
August 13, 2018: Bioscience Reports
Bo Wang, Dongping Li, Rocio Rodriguez-Juarez, Allison Farfus, Quinn Storozynsky, Megan Malach, Emily Carpenter, Jody Filkowski, Anne E Lykkesfeldt, Olga Kovalchuk
BACKGROUND: Breast cancer is the most common malignancy in women worldwide. Although the endocrine therapy that targets estrogen receptor α (ERα) signaling has been well established as an effective adjuvant treatment for patients with ERα-positive breast cancers, long-term exposure may eventually lead to the development of acquired resistance to the anti-estrogen drugs, such as fulvestrant and tamoxifen. A better understanding of the mechanisms underlying antiestrogen resistance and identification of the key molecules involved may help in overcoming antiestrogen resistance in breast cancer...
August 13, 2018: BMC Cancer
Nicolas W G Chen, Laurana Serres-Giardi, Mylène Ruh, Martial Briand, Sophie Bonneau, Armelle Darrasse, Valérie Barbe, Lionel Gagnevin, Ralf Koebnik, Marie-Agnès Jacques
BACKGROUND: Host specialization is a hallmark of numerous plant pathogens including bacteria, fungi, oomycetes and viruses. Yet, the molecular and evolutionary bases of host specificity are poorly understood. In some cases, pathological convergence is observed for individuals belonging to distant phylogenetic clades. This is the case for Xanthomonas strains responsible for common bacterial blight of bean, spread across four genetic lineages. All the strains from these four lineages converged for pathogenicity on common bean, implying possible gene convergences and/or sharing of a common arsenal of genes conferring the ability to infect common bean...
August 13, 2018: BMC Genomics
Da-Yong Lu, Hong-Ying Wu, Nagendra Sastry Yarla, Ting-Ren Lu, Bin Xu, Jian-Ding
The constant Ebola epidemic outbreaks in Africa arisen waves of panic worldwide. There is a high mortality rate (30-70%) among Ebola infected people in virus-stricken areas. Despite these horrors, the medical capabilities against this deadly viral disease were provided by limited therapeutic agents/options. As a result, several patented agents, biotherapies or prophylactic/therapeutic vaccines need to be reviving into the global markets-including patents of small molecular chemicals, short sequences or oligomers of DNA/RNA, linkages of chemicals with bio-molecules, herbal medicine and so on...
August 13, 2018: Infectious Disorders Drug Targets
Hellen Kuasne, Mateus C Barros-Filho, Fábio A Marchi, Sandra A Drigo, Cristovam Scapulatempo-Neto, Eliney F Faria, Silvia R Rogatto
Androgen receptor (AR) is a member of the steroid and nuclear family receptor that acts as transcription factor. AR signaling plays pivotal role in the development and progression of prostate cancer. However, the role of AR in penile cancer (PeCa) is poorly explored. Our previous molecular studies unveiled frequent AR mRNA loss in PeCa, which was further predicted as a major driver alteration in this neoplasm. Herein, we assessed the AR protein expression in 59 usual PeCa tissues and 42 surrounding normal tissues (SNT) by immunohistochemistry using a tissue microarray...
August 11, 2018: Virchows Archiv: An International Journal of Pathology
Henry G Kaplan, Steven Rostad, Jeffrey S Ross, Siraj M Ali, Sherri Z Millis
Background: The aim of this study was to determine the frequency of alterations in BRAF and other RAS/RAF genes, as well as other targetable pathways in malignant peripheral nerve sheath tumors (MPNSTs). Patients and Methods: Pathology specimens were available for 2 cohorts: (1) patients with MPNST at Swedish Cancer Institute (n=17) from 2004 through 2016, and (2) patients with MPNST evaluated for >300 genomic alterations at Foundation Medicine from 2014 through 2016 (n=186; including 2 Swedish patients with BRAF -mutated MPNST)...
August 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Tatiana Orme, Rita Guerreiro, Jose Bras
PURPOSE OF REVIEW: Dementia with Lewy bodies (DLB) is a neurodegenerative disease that can be clinically and pathologically similar to Parkinson's disease (PD) and Alzheimer's disease (AD). Current understanding of DLB genetics is insufficient and has been limited by sample size and difficulty in diagnosis. The first genome-wide association study (GWAS) in DLB was performed in 2017; a time at which the post-GWAS era has been reached in many diseases. RECENT FINDINGS: DLB shares risk loci with AD, in the APOE E4 allele, and with PD, in variation at GBA and SNCA...
August 10, 2018: Current Neurology and Neuroscience Reports
Lakshmi Shree Mahadevan, James Zhong, BhanuPrasad Venkatesulu, Harmeet Kaur, Shreerang Bhide, Bruce Minsky, William Chu, Martijn Intven, Uulke A van der Heide, Baukelien van Triest, Sunil Krishnan, William Hall
The treatment protocols for rectal cancer continue to evolve, with increasing acceptance of a watch-and-wait policy for clinical complete responders to neoadjuvant chemoradiation therapy. It still, however, remains unclear who is likely to achieve a pathological complete response, which unequivocally portends a very favorable overall prognosis. Evolution of modern imaging techniques has paved the way for potential prediction of treatment response based on baseline, on-treatment, early post-treatment and subsequent follow-up imaging alone...
September 2018: Critical Reviews in Oncology/hematology
L Fouillet, E Daguenet, F Schein, E Tavernier, P Flandrin-Gresta, J Cornillon
Deciphering the mutational patterns and/or the biomarkers that might predict clinical response in patients with myelofibrosis is primordial to make treatment decisions. In this report, we discuss the clinical history, pathological evaluation, and genomics findings in a patient with JAK2-positive myelofibrosis who developed a secondary myelodysplasia after hematopoietic stem cell transplantation and JAK1/2 inhibitor treatment. Using next-generation sequencing, a paired comparison of relapse-specific versus primary tumour mutations highlighted the dynamic clonal evolution at relapse, showing concurrently the complete eradication of the JAK2-positive clone and the expansion of a second JAK2-negative clone with additional mutations...
August 7, 2018: Current Research in Translational Medicine
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