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Vascular tumors genetics

Bethany N Hannafon, Amy L Gin, Yi-Fan Xu, Matthew Bruns, Cameron L Calloway, Wei-Qun Ding
BACKGROUND: Exosomes are small membrane-bound vesicles that contribute to tumor progression and metastasis by mediating cell-to-cell communication and modifying the tumor microenvironment at both local and distant sites. However, little is known about the predominant factors in exosomes that contribute to breast cancer (BC) progression. MTA1 is a transcriptional co-regulator that can act as both a co-activator and co-repressor to regulate pathways that contribute to cancer development...
February 19, 2019: Cell Communication and Signaling: CCS
Wonwoo Shon, Steven D Billings
Vascular tumors are a diagnostically challenging area. This is particularly true in the case of epithelioid vascular tumors. Not only is the distinction between different epithelioid vascular tumors challenging, but also the differential diagnosis may be substantially expanded by the inclusion of melanoma, carcinomas, and other epithelioid soft tissue tumors. Recently developed immunohistochemical markers and more comprehensive genetic characterizations continue to advance our understanding of epithelioid vascular tumors...
February 12, 2019: Advances in Anatomic Pathology
Federico Prefumo, Anna Fichera, Nicola Fratelli, Enrico Sartori
Fetal anemia has been known for many years as a dangerous complication of pregnancy. Its most common causes are maternal alloimmunization and parvovirus B19 infection, although it can be associated with many different pathological conditions including fetal aneuploidies, vascular tumors, and arteriovenous malformations of the fetus or placenta and inherited conditions such as alpha-thalassemia or genetic metabolic disorders. Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery for the diagnosis of fetal anemia and intravascular intrauterine transfusion for its treatment are the current practice standards...
January 9, 2019: Best Practice & Research. Clinical Obstetrics & Gynaecology
Anna Latysheva, Kyrre Eeg Emblem, Petter Brandal, Einar Osland Vik-Mo, Jens Pahnke, Kjetil Røysland, John K Hald, Andrés Server
PURPOSE: According to the revised World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS) of 2016, oligodendrogliomas are now defined primarily by a specific molecular signature (presence of IDH mutation and 1p19q codeletion). The purpose of our study was to assess the value of dynamic susceptibility contrast MR imaging (DSC-MRI) and diffusion-weighted imaging (DWI) to characterize oligodendrogliomas and to distinguish them from astrocytomas. METHODS: Seventy-one adult patients with untreated WHO grade II and grade III diffuse infiltrating gliomas and known 1p/19q codeletion status were retrospectively identified and analyzed using relative cerebral blood volume (rCBV) and apparent diffusion coefficient (ADC) maps based on whole-tumor volume histograms...
February 2, 2019: Neuroradiology
Tamaki Yahata, Mika Mizoguchi, Akihiko Kimura, Orimo Takashi, Saori Toujima, Yumi Kuninaka, Mizuho Nosaka, Yuko Ishida, Izumi Sasaki, Yuri Fukuda-Ohta, Hiroaki Hemmi, Naoyuki Iwahashi, Tomoko Noguchi, Tsuneyasu Kaisho, Toshikazu Kondo, Kazuhiko Ino
Programmed cell death ligand 1 (PD-L1) on tumor cells suppresses anti-tumor immunity and has an unfavorable prognostic impact in ovarian cancer patients. We herein report the pathophysiological and therapeutic impacts of PD-L1 disruption in ovarian cancer. PD-L1 was genetically disrupted in the murine ovarian cancer cell line ID8 using clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-mediated genome editing. PD-L1 knockout (KO) and control ovarian cancer cells were intraperitoneally inoculated into syngeneic mice, and survival and tumor dissemination were evaluated...
January 31, 2019: Cancer Science
S F Lax
Benign leiomyomas are the most frequent mesenchymal tumors of the uterus. In contrast, uterine sarcomas are very rare. Leiomyosarcomas are the most frequent sarcomas followed by endometrial stromal sarcomas (ESS). Leiomyosarcomas are characterized by marked nuclear atypia and high mitotic count and may also show tumor cell necrosis and myometrial and vascular invasion. For cases of diagnostic uncertainty, the category of smooth muscle tumor of uncertain malignant potential (STUMP) may be considered but should be rarely used...
January 29, 2019: Der Pathologe
Philip M Boone, Rachel M Scott, Stefan J Marciniak, Elizabeth P Henske, Benjamin A Raby
A genetic influence on spontaneous pneumothoraces - those occurring without a traumatic or iatrogenic cause - is supported by several lines of evidence: 1) Pneumothorax can cluster in families (i.e. familial spontaneous pneumothorax); 2) Mutations in the FLCN gene have been found in both familial and sporadic cases; and 3) Pneumothorax is a known complication of several genetic syndromes. Herein we review known genetic contributions to both sporadic and familial pneumothorax. We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dubé syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1-antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis (LAM), Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others...
January 25, 2019: American Journal of Respiratory and Critical Care Medicine
Tao Sun, Rameshwar Patil, Anna Galstyan, Dmytro Klymyshyn, Hui Ding, Alexandra Chesnokova, Webster K Cavenee, Frank B Furnari, Vladimir A Ljubimov, Ekaterina S Shatalova, Shawn Wagner, Debiao Li, Adam N Mamelak, Serguei I Bannykh, Chirag G Patil, Jeremy D Rudnick, Jethro Hu, Zachary B Grodzinski, Arthur Rekechenetskiy, Vida Falahatian, Alexander V Lyubimov, Yongmei L Chen, Lai Sum Leoh, Tracy R Daniels-Wells, Manuel L Penichet, Eggehard Holler, Alexander V Ljubimov, Keith L Black, Julia Y Ljubimova
There is an unmet need for the treatment of glioblastoma multiforme (GBM). The extracellular matrix (ECM), including laminins, in the tumor microenvironment is important for tumor invasion and progression. In a panel of 226 patient brain glioma samples, we found a clinical correlation between the expression of tumor vascular laminin-411 (α4β1γ1) with higher tumor grade and with expression of cancer stem cell (CSC) markers including Notch pathway members, CD133, Nestin, and c-Myc. Laminin-411 overexpression also correlated with higher recurrence rate and shorter survival of GBM patients...
January 18, 2019: Cancer Research
Sha Zhu, Lili Jiang, Liuyan Wang, Lingli Wang, Cong Zhang, Yu Ma, Tao Huang
Background: Resistance to mitoxantrone (MTX), an anthracenedione antineoplastic agent used in advanced and metastatic androgen-refractory prostate cancer (PCa), seriously limits therapeutic success. Methods: Xenografts from two human PCa cell lines (VCaP and CWR22) were established in male severe combined immunodeficiency mice, and MTX was administered, with or without concurrent castration, three times a week until tumors relapsed. Microarray technology was used to screen for differentially expressed genes (DEGs) in androgen-independent, MTX-resistant PCa xenografts...
2019: Cancer Management and Research
Martina Ramella, Giulia Bertozzi, Luca Fusaro, Maria Talmon, Marcello Manfredi, Marta Calvo Catoria, Francesco Casella, Carla Maria Porta, Renzo Boldorini, Luigia Grazia Fresu, Emilio Marengo, Francesca Boccafoschi
Abdominal aortic aneurysm (AAA) is a focal dilatation of the aorta, caused by both genetic and environmental factors. Although vascular endothelium plays a key role in AAA progression, the biological mechanisms underlying the mechanical stress involvement are only partially understood. In this study, we developed an in vitro model to characterize the role of mechanical stress as a potential trigger of endothelial deregulation in terms of inflammatory response bridging between endothelial cells (ECs), inflammatory cells, and matrix remodeling...
January 12, 2019: International Journal of Molecular Sciences
Yuli Hou, Yonghong Zhang, Ling Qin, Chi Zhang, Shanshan Wang, Dexi Chen, Ang Li, Jinli Lou, Yanhua Yu, Tao Dong, Ning Li, Yan Zhao
Interferon-induced transmembrane protein 3 (IFITM3) is a component of ISG (Interferon-Stimulated Gene) family. The association between IFITM3 and hepatocellular carcinoma (HCC) has been reported. While the relationship between this genetic variation and the progress of HCC remains unclear. To address this issue, we explore the relationship between the IFITM3-rs12252 genetic variants and the progression of HCC in this study.A total of 336 candidates were enrolled in the study, including 156 patients with HBV related HCC and 180 patients with chronic Hepatitis B infections or liver cirrhosis...
January 2019: Medicine (Baltimore)
Evgenii Boriushkin, Hui Zhang, Mitchell Becker, Janet Peachey, Mohammad A Shatat, Ralf H Adams, Anne Hamik
Angiogenesis is a multistep process that requires highly regulated endothelial cell (EC) behavior. The transcription factor Krüppel-like factor 4 (KLF4) is a critical regulator of several basic EC functions; we have recently shown that KLF4 disturbs pathological (tumor) angiogenesis by mediating the expression of members of VEGF and Notch signaling pathways. Notch signaling is central to orchestration of sprouting angiogenesis but little is known about the upstream regulation of Notch itself. To determine the role of KLF4 in normal (developmental) angiogenesis, we used a mouse retinal angiogenesis model...
January 3, 2019: Angiogenesis
Jason L Hornick
Diagnosing soft tissue tumors is challenging, even on ample incisional biopsies or resection specimens. There are more than 100 distinct types of soft tissue neoplasms, including more than 80 benign and intermediate mesenchymal tumors and around 40 soft tissue sarcomas. Accurate diagnosis relies first upon recognition of characteristic histologic and cytologic features, including architecture, stromal characteristics, vascular patterns, and dominant cytology; these features may not be represented or apparent in limited core needle biopsy or fine needle aspiration specimens...
January 2, 2019: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Balaji Kyathegowdanadoddi Srinivas, Madhu Chakkere Shivamadhu, Shankar Jayarama
Lifestyle and nutritional changes have contributed much to the somatic genetic changes which have concurrently led to an increase cancer in humans. Hence the plant-based and nutritional involvements block oncogenic transformation are in good demand. We evaluate Phloem exudates of the dietary plant, Musa acuminate pseudostem, the initial domesticated plant species with the effective lectin activity for its functional role against the tumor development and its mechanism of action. Our experimental data exhibit that Musa acuminata Lectin Protein (MALP) shows a promising cytotoxic effect against the various human cancer cell lines...
December 29, 2018: Nutrition and Cancer
Yang Chen, Doruk Keskin, Hikaru Sugimoto, Keizo Kanasaki, Patricia E Phillips, Lauren Bizarro, Arlene Sharpe, Valerie S LeBleu, Raghu Kalluri
Metastatic dissemination employs both the blood and lymphatic vascular systems. Solid tumors dynamically remodel and generate both vessel types during cancer progression. Lymphatic vessel invasion and cancer cells in the tumor-draining lymph nodes (LNs) are prognostic markers for breast cancer metastasis and patient outcome, and tumor-induced lymphangiogenesis likely influences metastasis. Deregulated tumor tissue fluid homeostasis and immune trafficking associated with tumor lymphangiogenesis may contribute to metastatic spreading; however, the precise functional characterization of lymphatic endothelial cells (LECs) in tumors is challenged by the lack of specific reagents to decipher their rate-limiting role in metastasis...
December 2018: PLoS Biology
Dawn H Siegel
Infantile hemangiomas (IH) are the most common vascular tumor of infancy with an estimated 80,000 annual diagnoses in the United States. The genetic mechanisms underlying IH and the related multi-organ birth defect syndromes, PHACE (an acronym for Posterior fossa brain malformations, segmental facial Hemangiomas, Arterial anomalies, Cardiac defects, Eye anomalies, and sternal clefting or supraumbilical raphe) and LUMBAR (an acronym for Lower body hemangiomas, Urogenital anomalies, Myelopathy, Bone deformities, Anorectal malformations/Arterial anomalies, Renal anomalies) remain unsolved...
December 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Ernest Duah, Lakshminarayan Reddy Teegala, Vinay Kondeti, Ravi K Adapala, Venkateshwar G Keshamouni, Yoshihide Kanaoka, K Frank Austen, Charles K Thodeti, Sailaja Paruchuri
Cysteinyl leukotrienes (cys-LTs) are proinflammatory mediators that enhance vascular permeability through distinct receptors (CysLTRs). We found that CysLT2 R regulates angiogenesis in isolated mouse endothelial cells (ECs) and in Matrigel implants in WT mice and enhances EC contraction and permeability via the Rho-dependent myosin light chain 2 and vascular endothelial (VE)-cadherin axis. Since solid tumors utilize aberrant angiogenesis for their growth and metastasis and their vessels exhibit vascular hyperpermeability, we hypothesized that CysLT2 R, via its actions on the endothelium, might regulate tumor growth...
December 17, 2018: Proceedings of the National Academy of Sciences of the United States of America
Zahra Heidari, Abbas Mohammadpour-Gharehbagh, Moein Eskandari, Mahdiyeh Harati-Sadegh, Saeedeh Salimi
microRNAs (miRNAs) as a group of short noncoding RNAs are crucial molecules in transcriptional and translational regulation of oncogenes and tumor suppressor genes. Evidence showed there was an association between the miRNA polymorphisms and various cancers, including papillary thyroid carcinoma (PTC). The present study aims to evaluate the possible effects of let7a-2 rs1143770 and pri-mir-34b/c rs4938723 polymorphisms on PTC susceptibility. A total of 120 patients with PTC and 130 age, sex, and race matched controls were enrolled in the case-control study...
December 14, 2018: Journal of Cellular Biochemistry
Janina Hahn, Melanie Nordmann-Kleiner, Thomas K Hoffmann, Jens Greve
OBJECTIVE: Less than 5% of deep vein thrombosis is due to thrombosis of the internal jugular vein. Genetic, malignant or inflammatory underlying diseases as well as insertion of venous catheters can be responsible for this pathology. Due to its rare occurrence, it is difficult to find systematic research about thrombosis of the internal jugular vein. METHODS: We performed a systematic analysis of present patient data from our ENT department with the electronic patient record considering the period from 2012-2017...
December 10, 2018: Auris, Nasus, Larynx
Mahtab Babadi, Ahmad Khorshidi, Esmat Aghadavood, Mansooreh Samimi, Elham Kavossian, Fereshteh Bahmani, Alireza Mafi, Rana Shafabakhsh, Mahbobeh Satari, Zatollah Asemi
This study was carried out to evaluate the effects of probiotic supplementation on genetic and metabolic profiles in patients with gestational diabetes mellitus (GDM) who were not on oral hypoglycemic agents. This randomized, double-blind, placebo-controlled clinical trial was conducted in 48 patients with GDM. Participants were randomly divided into two groups to intake either probiotic capsule containing Lactobacillus acidophilus, Lactobacillus casei, Bifidobacterium bifidum, Lactobacillus fermentum (2 × 109  CFU/g each) (n = 24) or placebo (n = 24) for 6 weeks...
December 8, 2018: Probiotics and Antimicrobial Proteins
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