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Vascular tumors mutations

David P Steensma
Clonal hematopoiesis (CH)-an expansion of blood cells derived from a single hematopoietic stem cell-is a defining feature of hematologic cancers, but recently CH was also found to be a frequent consequence of aging. When aging-associated CH results from acquisition of a somatic mutation in a driver gene associated with leukemia, and this mutation is present at a variant allele frequency of at least 0.02 (2%) yet the patient does not meet World Health Organization diagnostic criteria for a hematologic neoplasm, this state is termed clonal hematopoiesis of indeterminate potential (CHIP)...
August 2018: Mayo Clinic Proceedings
Jia Lu, Haiyan Liu, Lin Zhang, Lingjun Ma, Hongyan Zhou
RATIONALE: Neurofibromatosis type I (NF-1) is a multisystem autosomal dominant disease characterized by pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. It is caused by a mutation in the NF-1 tumor suppressor gene. NF-1 vascular disease is an important complication of the disease. PATIENT CONCERNS: The study reports a unique case of a patient with NF-1 with 2 simultaneous vascular abnormalities, involving tiny spiral venous changes (corkscrew retinal vessels) and retinal arterial macroaneurysms...
July 2018: Medicine (Baltimore)
Andreas Petry, Benjamin Trautz, Damir Kracun, Zuwen Zhang, Frederick Vogel, Michael Weitnauer, Katharina Hochkogler, Agnes Görlach
BACKGROUND: Hypoxia and reactive oxygen species (ROS) have been shown to play a role in the pathogenesis of pulmonary hypertension, a potentially fatal disorder characterized by pulmonary vascular remodeling, elevated pulmonary arterial pressure and right ventricular hypertrophy. However, how they are linked in the context of pulmonary hypertension is not completely understood. AIMS: We therefore investigated the role of the NADPH oxidase subunit p22phox,in the response to hypoxia in vitro and in vivo...
July 25, 2018: Antioxidants & Redox Signaling
Hyun Jung Koo, Mi Young Kim, Sojung Park, Han Na Lee, Hwa Jung Kim, Jae Cheol Lee, Sang-We Kim, Dae Ho Lee, Chang-Min Choi
Purpose To evaluate the clinical and CT characteristics of T790M mutation-positive non-small cell lung cancer (NSCLC) after epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitor (TKI) therapy failure. Materials and Methods A retrospective study of 304 patients with NSCLC who underwent rebiopsy after first-line EGFR-TKI therapy was conducted. Rebiopsy methods included CT- or fluoroscopy-guided lung biopsies (n = 105), endobronchial US- or bronchofibroscopy-guided biopsies (n = 66), pleural fluid analysis (n = 47), other solid organ biopsies (n = 43), US-guided axillary or supraclavicular lymph node biopsies (n = 31), and cerebrospinal fluid analysis (n = 12)...
July 17, 2018: Radiology
Xiao-Han Yuan, Jie Yang, Xin-Yue Wang, Xiao-Ling Zhang, Ting-Ting Qin, Kai Li
Epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene homolog (KRAS) are two of the most notable driver genes in lung cancer, whilst vascular endothelial growth factor (VEGF) signaling serves a critical function in tumor angiogenesis. However, few studies have focused on the potential connection between EGFR/KRAS mutational status, and VEGFA, VEGF receptor (VEGFR)1 and VEGFR2 expression in lung adenocarcinoma. EGFR (exon 19, 20 and 21) and KRAS (exon 2) mutations were detected using an amplification refractory mutation system technique, and the expression of VEGFA, VEGFR1 and VEGFR2 was analyzed using immunohistochemistry in 204 patients with lung adenocarcinoma...
August 2018: Oncology Letters
Dalia Millán-Gómez, Salvador Dueñas, Patricia L A Muñoz, Tanya Camacho-Villegas, Carolina Elosua, Olivia Cabanillas-Bernal, Teresa Escalante, Almudena Perona, David Abia, Florian Drescher, Pierrick G J Fournier, Marco A Ramos, Rosa E Mares, Jorge Paniagua-Solis, Teresa Mata-Gonzalez, Jorge Gonzalez-Canudas, Robert M Hoffman, Alexei Licea-Navarro, Noemí Sánchez-Campos
The stability, binding, and tissue penetration of variable new-antigen receptor (VNAR) single-domain antibodies have been tested as part of an investigation into their ability to serve as novel therapeutics. V13 is a VNAR that recognizes vascular endothelial growth factor 165 (VEGF165 ). In the present study V13 was used as a parental molecule into which we introduced mutations designed in silico . Two of the designed VNAR mutants were expressed, and their ability to recognize VEGF165 was assessed in vitro and in vivo ...
June 15, 2018: Oncotarget
Jessica Gasparello, Matteo Allegretti, Elisa Tremante, Enrica Fabbri, Carla Azzurra Amoreo, Paolo Romania, Elisa Melucci, Katia Messana, Monica Borgatti, Patrizio Giacomini, Roberto Gambari, Alessia Finotti
BACKGROUND: Circulating tumor DNA (ctDNA) and miRNA (ctmiRNA) are promising biomarkers for early tumor diagnosis, prognosis and monitoring, and to predict therapeutic response. However, a clear understanding of the fine control on their circulating levels is still lacking. METHODS: Three human colorectal carcinoma cell lines were grown in culture and as tumor xenograft models in nude mice. Chip-based and droplet digital PCR platforms were used to systematically and quantitatively assess the levels of DNAs and miRNAs released into the culture supernatants and mouse blood plasma...
June 26, 2018: Journal of Experimental & Clinical Cancer Research: CR
Xiuzhi Zhou, Li Cai, Junjie Liu, Xiaomin Hua, Ying Zhang, Huilin Zhao, Bin Wang, Boqing Li, Pengzhou Gai
Epidermal growth factor receptor (EGFR) is an important gene in the development of lung adenocarcinoma. However, there is controversy regarding the association between EGFR mutations and survival time of patients with lung adenocarcinoma. In the present study, tissue specimens and clinical data were collected from 219 patients with lung adenocarcinoma who had not undergone prior radiotherapy or chemotherapy. EGFR mutations were detected using a fluorescence polymerase chain reaction method, and the association between EGFR mutations and clinicopathological characteristics was analyzed...
July 2018: Oncology Letters
M Chakhtoura, M S Ramnitz, N Khoury, G Nemer, N Shabb, A Abchee, A Berberi, M Hourani, M Collins, S Ichikawa, G El Hajj Fuleihan
Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c...
June 20, 2018: Osteoporosis International
Elena I Fomchenko, Daniel Duran, Sheng Chih Jin, Weilai Dong, E Zeynep Erson-Omay, Prince Antwi, August Allocco, Jonathan R Gaillard, Anita Huttner, Murat Gunel, Michael L DiLuna, Kristopher T Kahle
Congenital hemangiomas are tumor-like vascular malformations with poorly understood pathogenesis. We report the case of a neonate with a massive congenital scalp hemangioma that required urgent neurosurgical removal on the second day of life due to concern for high-flow arteriovenous shunting. Exome sequencing identified a rare damaging de novo germline mutation in MYH9 (c.5308C>T, p.[Arg1770Cys]), encoding the MYH9 non-muscle myosin IIA. MYH9 has a probability of loss-of-function intolerance (pLI) score > 0...
June 14, 2018: Cold Spring Harbor Molecular Case Studies
Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha Jl Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Helene Dreau, Melissa Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean-Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus-Michael Debatin, Richard Redon, Stéphane Bezieau, Brigitte Bressac-de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard Van Wijk, Joachim R Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C Taylor, Yannick Arlot-Bonnemains, Stéphane Richard, Anne-Paule Gimenez-Roqueplo, Holger Cario, Betty Gardie
Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this discovery, additional VHL mutations have been identified in patients with congenital erythrocytosis, in a homozygous or compound-heterozygous state. VHL is a major tumor suppressor gene, mutations in which were first described in patients presenting with von Hippel-Lindau disease, which is characterized by the development of highly vascularized tumors...
June 11, 2018: Blood
Li Pan, Hongli Yang, Cong Xu, Shuangfeng Chen, Zhen Meng, Keyi Li, Haiying Chen
OBJECTIVE: Squamous cell carcinoma is often associated with the deletion or mutation of zinc finger protein 750 (ZNF750), its deletion or mutation is associated with squamous epithelial malignant biological characteristics. The present study is to explore the mechanism of ZNF750 to suppress the tumor malignant process by regulation tumor microenvironment. METHODS: To evaluate the changes of tumor microenvironment in oral squamous cells carcinoma cell line CAL-27 cell, the expression of angiogenin, vascular endothelial growth factor (VEGF), prolyl hydroxylase 2 (PHD2), G protein signal regulated protein 5 (RGS5), integrin A5 (ITGA5), integrin B1 (ITGB1) and CD44 were detected by Western-blot...
September 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Jimmy C Yang, Andrew S Venteicher, Matthew J Koch, Christopher J Stapleton, Gabriel N Friedman, Emma M Venteicher, John H Shin
BACKGROUND AND IMPORTANCE: Myopericytoma is an emerging class of neoplasm originating from the perivascular myoid cellular environment, previously classified as a variant of hemangiopericytoma. Most reported myopericytomas are found in soft tissues of the extremities; however, infrequent cases are described involving the central nervous system. Intracranial myopericytoma remains rare. Here, we describe the first report of myopericytoma occurring at the cervicomedullary junction in close proximity to the vertebral artery, mimicking a vascular lesion...
June 8, 2018: Neurosurgery
Lewei Zhu, Long Jiang, Jie Yang, Weiquan Gu, Jianxing He
Background: Adenosquamous carcinoma (ASC) is a mixed glandular and squamous cell carcinoma (SCC) with more aggressive behavior than the other histologic subtypes of lung cancer. We aim to evaluate the prognosis of patients with ASC after surgical resection. Methods: We reviewed records of patients who underwent surgical resection for lung cancer in two institutes between January 2010 and December 2015. Survival data were collected with a median follow-up of 59 (range from 10 to 85) months...
April 2018: Journal of Thoracic Disease
Hanfang Zhang, Farlyn Z Hudson, Zhimin Xu, Rebekah Tritz, Modesto Rojas, Chintan Patel, Stephen B Haigh, Zsuzsanna Bordán, David A Ingram, David J Fulton, Neal L Weintraub, Ruth B Caldwell, Brian K Stansfield
Purpose: Neurofibromatosis type 1 (NF1) is the result of inherited mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. Eye manifestations are common in NF1 with recent reports describing a vascular dysplasia in the retina and choroid. Common features of NF1 retinopathy include tortuous and dilated feeder vessels that terminate in capillary tufts, increased endothelial permeability, and neovascularization. Given the retinal vascular phenotype observed in persons with NF1, we hypothesize that preserving neurofibromin may be a novel strategy to control pathologic retinal neovascularization...
May 1, 2018: Investigative Ophthalmology & Visual Science
Lei Zhang, Liqun He, Roberta Lugano, Kenney Roodakker, Michael Bergquist, Anja Smits, Anna Dimberg
Background: Vascular gene expression patterns in lower grade gliomas (LGG, diffuse WHO grade II-III gliomas) have not been thoroughly investigated. The aim of this study was to molecularly characterize LGG vessels and determine if tumor isocitrate dehydrogenase (IDH)-mutation status affects vascular phenotype. Methods: Gene expression was analyzed using an in-house dataset derived from microdissected vessels and total tumor samples from human glioma in combination with expression data from 289 LGG samples available in the TCGA database...
May 29, 2018: Neuro-oncology
Lisa Mäder, Anna E Blank, David Capper, Janina Jansong, Peter Baumgarten, Naita M Wirsik, Cornelia Zachskorn, Jakob Ehlers, Michael Seifert, Barbara Klink, Stefan Liebner, Simone Niclou, Ulrike Naumann, Patrick N Harter, Michel Mittelbronn
Epithelial-to-mesenchymal transition (EMT) is supposed to be responsible for increased invasion and metastases in epithelial cancer cells. The activation of EMT genes has further been proposed to be important in the process of malignant transformation of primary CNS tumors. Since the cellular source and clinical impact of EMT factors in primary CNS tumors still remain unclear, we aimed at deciphering their distribution in vivo and clinico-pathological relevance in human gliomas. We investigated 350 glioma patients for the expression of the key EMT factors SLUG and TWIST by immunohistochemistry and immunofluorescence related to morpho-genetic alterations such as EGFR -amplification, IDH-1 (R132H) mutation and 1p/19q LOH...
May 8, 2018: Oncotarget
Małgorzata Figlus, Beata Kaczorowska, Dariusz J Jaskólski, Łukasz Kępczyński
Von Hippel-Lindau disease (vHL, familial cerebello-retinal angiomatosis) is a rare genetic autosomal dominant disorder associated with predisposition to vascular tumors. Mutations of VHL tumor suppressor gene, located on chromosome 3p25-26, are responsible for clinical manifestation of the disease. The VHL gene product encodes VHL protein, which is responsible for HIF-1 (hypoxia-inducible factor-1) dependent cell cycle regulation and cellular pathways mediated by VEGF, PDGF, TGF-α, EPO. The mechanism substantiates the hypoxia dependent vascular tumor growth caused by loss of wild-type VHL protein...
May 25, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Narendranath Vikkath, Prasanth Ariyannur, Krishnakumar N Menon, Bindhu Mr, Ashok Pillai
BACKGROUND: Central nervous system (CNS) hemangioblastoma (HB) is the most common tumor in the von Hippel Lindau (VHL) disorder, the hereditary tumor syndrome caused by the biallelic mutations of the VHL gene. The disrupted VHL and Elongin protein interaction on hypoxia-inducible factor-1α (HIF-1α) induces a set of hypoxia-inducible genes, resulting in an unchecked endothelial cell proliferation that then leads to hemangioblastoma formation. However, recent studies have shown that disruptive germline mutations of VHL need not result in hemangioblastoma, though it can cause other manifestations of the VHL syndrome...
May 29, 2018: Drug Metabolism and Personalized Therapy
Samantha S Dykes, Veronica S Hughes, Jennifer M Wiggins, Henrietta O Fasanya, Mai Tanaka, Dietmar Siemann
Breast cancer in the United States is the second most commonly diagnosed cancer in women. About 1 in 8 women will develop invasive breast cancer over the course of her lifetime and breast cancer remains the second leading cause of cancer-related death. In pursuit of novel therapeutic strategies, researchers have examined the tumor microenvironment as a potential anti-cancer target. In addition to neoplastic cells, the tumor microenvironment is composed of several critical normal cell types, including fibroblasts, vascular and lymph endothelial cells, osteoclasts, adipocytes, and immune cells...
May 4, 2018: Oncotarget
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