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https://www.readbyqxmd.com/read/28045622/use-of-minimal-residual-disease-assessment-to-redefine-induction-failure-in-pediatric-acute-lymphoblastic-leukemia
#1
David O'Connor, Anthony V Moorman, Rachel Wade, Jeremy Hancock, Ronald M R Tan, Jack Bartram, John Moppett, Claire Schwab, Katharine Patrick, Christine J Harrison, Rachael Hough, Nick Goulden, Ajay Vora, Sujith Samarasinghe
Purpose Our aim was to determine the role of end-of-induction (EOI) minimal residual disease (MRD) assessment in the identification and stratification of induction failure in patients with pediatric acute lymphoblastic leukemia (ALL) and to identify genetic abnormalities that drive disease in these patients. Patients and Methods Analysis included 3,113 patients who were treated in the Medical Research Council UKALL2003 multicenter randomized trial (NCT00222612) between 2003 and 2011. MRD was measured by using standardized real-time quantitative PCR...
January 3, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28028030/myeloid-neoplasms-with-eosinophilia
#2
Andreas Reiter, Jason Gotlib
Molecular diagnostics has generated substantial dividends in dissecting the genetic basis of myeloid neoplasms with eosinophilia. The family of diseases generated by dysregulated fusion tyrosine kinase (TK) genes is recognized by the World Health Organization (WHO) category, 'Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2' In addition to myeloproliferative neoplasms (MPN), these patients can present with myelodysplastic syndrome/MPN, as well as de novo or secondary mixed phenotype acute leukemias/lymphomas...
December 27, 2016: Blood
https://www.readbyqxmd.com/read/28010895/platelet-derived-growth-factor-receptors-pdgfrs-fusion-genes-involvement-in-hematological-malignancies
#3
REVIEW
Kwaku Appiah-Kubi, Ting Lan, Ying Wang, Hai Qian, Min Wu, Xiaoyuan Yao, Yan Wu, Yongchang Chen
PURPOSE: To investigate oncogenic platelet-derived growth factor receptor(PDGFR) fusion genes involvement in hematological malignancies, the advances in the PDGFR fusion genes diagnosis and development of PDGFR fusions inhibitors. METHODS: Literature search was done using terms "PDGFR and Fusion" or "PDGFR and Myeloid neoplasm" or 'PDGFR and Lymphoid neoplasm' or "PDGFR Fusion Diagnosis" or "PDGFR Fusion Targets" in databases including PubMed, ASCO.org, and Medscape...
January 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28008160/highly-expressed-integrin-%C3%AE-8-induces-epithelial-to-mesenchymal-transition-like-features-in-multiple-myeloma-with-early-relapse
#4
Jiyeon Ryu, Youngil Koh, Hyejoo Park, Dae Yoon Kim, Dong Chan Kim, Ja Min Byun, Hyun Jung Lee, Sung-Soo Yoon
Despite recent groundbreaking advances in multiple myeloma (MM) treatment, most MM patients ultimately experience relapse, and the relapse biology is not entirely understood. To define altered gene expression in MM relapse, gene expression profiles were examined and compared among 16 MM patients grouped by 12 months progression-free survival (PFS) after autologous stem cell transplantation. To maximize the difference between prognostic groups, patients at each end of the PFS spectrum (the four with the shortest PFS and four with the longest PFS) were chosen for additional analyses...
December 2016: Molecules and Cells
https://www.readbyqxmd.com/read/28000100/marked-response-to-imatinib-mesylate-in-a-patient-with-platelet-derived-growth-factor-receptor-beta-associated-acute-myeloid-leukemia
#5
Yoshimitsu Shimomura, Hayato Maruoka, Takayuki Ishikawa
Abnormal platelet-derived growth factor receptor (PDGFR)-mediated signaling may cause hematologic neoplasm. The PDGFR beta (PDGFRB) gene, located at chromosome band 5q31-33, forms a fusion gene as a result of chromosome translocation. Although patients with PDGFRB rearrangement mostly present with myeloproliferative neoplasm and eosinophilia, acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) have also been reported in this population. Treatment with imatinib mesylate alone has been shown to have excellent long-term efficacy against myeloproliferative neoplasms; however, its long-term effects on ALL and AML have not been elucidated...
December 20, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27984190/mutation-screening-of-pdgfb-gene-in-chinese-population-with-primary-familial-brain-calcification
#6
Xiang-Ping Yao, Chong- Wang, Hui-Zhen Su, Xin-Xin Guo, Ying-Qian Lu, Miao Zhao, Yao-Bin Liu, Jing-Hui Lai, Hai-Ting Chen, Ning Wang, Wan-Jin Chen
BACKGROUND: Until recently, primary familial brain calcification (PFBC) has been determined by four genes, SLC20A2, PDGFRB, PDGFB and XPR1. No studies have been carried out to analyze the gene mutation of PDGFB in Chinese population. OBJECTIVE: To screen mutations of PDGFB gene in a large cohort of Chinese PFBC patients with no SLC20A2 mutations. METHODS: We recruited 192 PFBC patients, including 21 index cases and 171 sporadic cases, in our study...
October 28, 2016: Gene
https://www.readbyqxmd.com/read/27960086/integrated-epi-genomic-analyses-identify-subgroup-specific-therapeutic-targets-in-cns-rhabdoid-tumors
#7
Jonathon Torchia, Brian Golbourn, Shengrui Feng, King Ching Ho, Patrick Sin-Chan, Alexandre Vasiljevic, Joseph D Norman, Paul Guilhamon, Livia Garzia, Natalia R Agamez, Mei Lu, Tiffany S Chan, Daniel Picard, Pasqualino de Antonellis, Dong-Anh Khuong-Quang, Aline C Planello, Constanze Zeller, Dalia Barsyte-Lovejoy, Lucie Lafay-Cousin, Louis Letourneau, Mathieu Bourgey, Man Yu, Deena M A Gendoo, Misko Dzamba, Mark Barszczyk, Tiago Medina, Alexandra N Riemenschneider, A Sorana Morrissy, Young-Shin Ra, Vijay Ramaswamy, Marc Remke, Christopher P Dunham, Stephen Yip, Ho-Keung Ng, Jian-Qiang Lu, Vivek Mehta, Steffen Albrecht, Jose Pimentel, Jennifer A Chan, Gino R Somers, Claudia C Faria, Lucia Roque, Maryam Fouladi, Lindsey M Hoffman, Andrew S Moore, Yin Wang, Seung Ah Choi, Jordan R Hansford, Daniel Catchpoole, Diane K Birks, Nicholas K Foreman, Doug Strother, Almos Klekner, Laszló Bognár, Miklós Garami, Péter Hauser, Tibor Hortobágyi, Beverly Wilson, Juliette Hukin, Anne-Sophie Carret, Timothy E Van Meter, Eugene I Hwang, Amar Gajjar, Shih-Hwa Chiou, Hideo Nakamura, Helen Toledano, Iris Fried, Daniel Fults, Takafumi Wataya, Chris Fryer, David D Eisenstat, Katrin Scheinemann, Adam J Fleming, Donna L Johnston, Jean Michaud, Shayna Zelcer, Robert Hammond, Samina Afzal, David A Ramsay, Nongnuch Sirachainan, Suradej Hongeng, Noppadol Larbcharoensub, Richard G Grundy, Rishi R Lulla, Jason R Fangusaro, Harriet Druker, Ute Bartels, Ronald Grant, David Malkin, C Jane McGlade, Theodore Nicolaides, Tarik Tihan, Joanna Phillips, Jacek Majewski, Alexandre Montpetit, Guillaume Bourque, Gary D Bader, Alyssa T Reddy, G Yancey Gillespie, Monika Warmuth-Metz, Stefan Rutkowski, Uri Tabori, Mathieu Lupien, Michael Brudno, Ulrich Schüller, Torsten Pietsch, Alexander R Judkins, Cynthia E Hawkins, Eric Bouffet, Seung-Ki Kim, Peter B Dirks, Michael D Taylor, Anat Erdreich-Epstein, Cheryl H Arrowsmith, Daniel D De Carvalho, James T Rutka, Nada Jabado, Annie Huang
We recently reported that atypical teratoid rhabdoid tumors (ATRTs) comprise at least two transcriptional subtypes with different clinical outcomes; however, the mechanisms underlying therapeutic heterogeneity remained unclear. In this study, we analyzed 191 primary ATRTs and 10 ATRT cell lines to define the genomic and epigenomic landscape of ATRTs and identify subgroup-specific therapeutic targets. We found ATRTs segregated into three epigenetic subgroups with distinct genomic profiles, SMARCB1 genotypes, and chromatin landscape that correlated with differential cellular responses to a panel of signaling and epigenetic inhibitors...
December 12, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27936391/contrary-influence-of-clinically-applied-sorafenib-concentrations-among-hepatocellular-carcinoma-patients
#8
Zu-Yau Lin, Wan-Long Chuang
The treatment responses of sorafenib in hepatocellular carcinoma are modest which may be due to different characteristics of cancer cells or insufficient therapeutic concentrations. This study was to clarify this issue. The anti-proliferative effects and differential expressions of 8 genes related to sorafenib anti-cancer mechanisms (tyrosine kinase receptor genes: KDR, PDGFRB; RAF cascade: RAF1, BRAF, MAP2K1, MAP2K2, MAPK1, MAPK3) were investigated in primary cultured hepatocellular carcinoma cells collected from 8 patients using clinically applied sorafenib concentrations (5, 10μg/mL)...
December 6, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27883876/comprehensive-genomic-profiling-of-central-giant-cell-lesions-identifies-clinically-relevant-genomic-alterations
#9
Brett Bezak, Heidi Lehrke, Julia Elvin, Laurie Gay, David Schembri-Wismayer, Christopher Viozzi
PURPOSE: Comprehensive genomic profiling (CGP) can simultaneously detect clinically relevant genomic alterations (CRGAs) in hundreds of cancer-related genes and direct treatment toward patient-specific therapy options for many tumors. This pilot study aimed to use CGP to describe CRGAs present in central giant cell lesions (CGCLs) to characterize any possible underlying genomic drivers of CGCLs. MATERIALS AND METHODS: With institutional review board approval, electronic medical records were searched for patients with histologically confirmed CGCLs who underwent biopsy at Mayo Clinic from 2000 through 2014...
November 1, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27856617/pdgfr%C3%AE-regulates-craniofacial-development-through-homodimers-and-functional-heterodimers-with-pdgfr%C3%AE
#10
Katherine A Fantauzzo, Philippe Soriano
Craniofacial development is a complex morphogenetic process, disruptions in which result in highly prevalent human birth defects. While platelet-derived growth factor (PDGF) receptor α (PDGFRα) has well-documented functions in this process, the role of PDGFRβ in murine craniofacial development is not well established. We demonstrate that PDGFRα and PDGFRβ are coexpressed in the craniofacial mesenchyme of mid-gestation mouse embryos and that ablation of Pdgfrb in the neural crest lineage results in increased nasal septum width, delayed palatal shelf development, and subepidermal blebbing...
November 1, 2016: Genes & Development
https://www.readbyqxmd.com/read/27855558/diagnostic-evaluation-of-rna-sequencing-for-the-detection-of-genetic-abnormalities-associated-with-ph-like-acute-lymphoblastic-leukemia-all
#11
Kai Lee Yap, Larissa V Furtado, Kazuma Kiyotani, Emily Curran, Wendy Stock, Jennifer L McNeer, Sabah Kadri, Jeremy P Segal, Yusuke Nakamura, Michelle M Le Beau, Sandeep Gurbuxani, Gordana Raca
Philadelphia (Ph)-like acute lymphoblastic leukemia (ALL) is a molecular subtype of high-risk B-cell ALL characterized by formation of abnormal gene fusions involving tyrosine kinase (TK) and cytokine receptor genes and activation of TK signaling. Because of the diversity of associated genetic changes, the detection of Ph-like ALL cases currently requires multiple cytogenetic and molecular assays; thus, our goal was to develop a consolidated workflow for detecting genetic abnormalities in Ph-like ALL. We found that total and targeted RNA sequencing (RNAseq)-based approach allowed the detection of abnormal fusion transcripts (EBF1-PDGFRB, P2RY8-CRLF2, RCSD1-ABL1, and RCSD1-ABL2)...
November 17, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27852048/igfbp2-expression-predicts-idh-mutant-glioma-patient-survival
#12
L Eric Huang, Adam L Cohen, Howard Colman, Randy L Jensen, Daniel W Fults, William T Couldwell
Mutations of the isocitrate dehydrogenase (IDH) 1 and 2 genes occur in ~80% of lower-grade (WHO grade II and grade III) gliomas. Mutant IDH produces (R)-2-hydroxyglutarate, which induces DNA hypermethylation and presumably drives tumorigenesis. Interestingly, IDH mutations are associated with improved survival in glioma patients, but the underlying mechanism for the difference in survival remains unclear. Through comparative analyses of 286 cases of IDH-wildtype and IDH-mutant lower-grade glioma from a TCGA data set, we report that IDH-mutant gliomas have increased expression of tumor-suppressor genes (NF1, PTEN, and PIK3R1) and decreased expression of oncogenes(AKT2, ARAF, ERBB2, FGFR3, and PDGFRB) and glioma progression genes (FOXM1, IGFBP2, and WWTR1) compared with IDH-wildtype gliomas...
November 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27844328/molecular-profiling-of-thymoma-and-thymic-carcinoma-genetic-differences-and-potential-novel-therapeutic-targets
#13
Franz Enkner, Bettina Pichlhöfer, Alexandru Teodor Zaharie, Milica Krunic, Tina Maria Holper, Stefan Janik, Bernhard Moser, Karin Schlangen, Barbara Neudert, Karin Walter, Brigitte Migschitz, Leonhard Müllauer
Thymoma and thymic carcinoma are thymic epithelial tumors (TETs). We performed a molecular profiling to investigate the pathogenesis of TETs and identify novel targets for therapy. We analyzed 37 thymomas (18 type A, 19 type B3) and 35 thymic carcinomas. The sequencing of 50 genes detected nonsynonymous mutations in 16 carcinomas affecting ALK, ATM, CDKN2A, ERBB4, FGFR3, KIT, NRAS and TP53. Only two B3 thymomas had a mutation in noncoding regions of the SMARCB1 and STK11 gene respectively. Three type A thymomas harbored a nonsynonymous HRAS mutation...
November 14, 2016: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/27793525/immunohistochemical-expression-and-localization-of-cytokines-chemokines-growth-factors-in-gastric-cancer
#14
Uthandaraman Mahalinga Raja, Gopisetty Gopal, Sundersingh Shirley, Ayloor Seshadri Ramakrishnan, Thangarajan Rajkumar
Our previous studies on gastric cancer tissue and patient plasma samples identified several cytokines/chemokines/growth factors to be differentially expressed, compared to normal samples. In this study our aim was to understand the localization patterns of the markers in gastric tissues. We investigated the expression of PDGFRB, CCL3, MMP3, CXCL8, CXCL10, CCL20, IGFBP3, CXCL9, SPP1, CCL18, TIMP1, CCL15, CXCL5 and CCL4 in gastric tissues using Immunohistochemistry (IHC) on Tissue Microarrays (TMA). The TMA comprised of 25 apparently normal (AN), 87 paired normal (PN) and 134 gastric cancer (T) tissues...
January 2017: Cytokine
https://www.readbyqxmd.com/read/27791295/vascular-architecture-as-diagnostic-marker-for-differentiation-of-who-thymoma-subtypes-and-thymic-carcinoma
#15
Frederick Pfister, Hussam Hussain, Djeda Belharazem, Svenja Busch, Katja Simon-Keller, Dominic Becker, Eva Pfister, Ralf Rieker, Philipp Ströbel, Alexander Marx
BACKGROUND: Thymomas and thymic squamous cell carcinomas (TSQCC) are rare thymic epithelial tumors. Data on angiogenesis and vascular phenotype in these tumors is limited, and no study took histological WHO subtypes into account. METHODS: Vascular density, diameter and architecture and expression of SMA, PDGFRb, VEGFR1 and VEGFR2 were investigated in WHO type A, AB, B1, B2 and B3 thymomas and TSQCC, using immuno-stainings, quantitative morphometry and tumor vessel isolation by trypsin digestion...
October 28, 2016: Histopathology
https://www.readbyqxmd.com/read/27787485/moyamoya-vasculopathy-shows-a-genetic-mutational-gradient-decreasing-from-east-to-west
#16
Alessandro Raso, Roberto Biassoni, Samantha Mascelli, Paolo Nozza, Elisabetta Ugolotti, Eddi DI Marco, Patrizia DE Marco, Elisa Merello, Armando Cama, Marco Pavanello, Valeria Capra
BACKGROUND: Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by bilateral steno- occlusive changes at the terminal portion of the internal carotid arteries and an abnormal vascular network at the base of the brain determining stroke in children. Patients with a similar vasculopathy and associated conditions are affected by the moyamoya syndrome (MMS). Most of the studies focused on MMD were carried out on East-Asian population. Ring Finger 213 (RNF213) has been identified as the strongest susceptibility gene for MMD in East-Asian people...
October 27, 2016: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/27776010/recurrent-somatic-pdgfrb-mutations-in-sporadic-infantile-solitary-adult-myofibromas-but-not-in-angioleiomyomas-and-myopericytomas
#17
Abbas Agaimy, Matthias Bieg, Michael Michal, Helene Geddert, Bruno Märkl, Jan Seitz, Evgeny A Moskalev, Matthias Schlesner, Markus Metzler, Arndt Hartmann, Stefan Wiemann, Michal Michal, Thomas Mentzel, Florian Haller
Infantile myofibroma (MF) is an uncommon benign myofibroblastic tumor of infancy and childhood. Solitary adult MF shares similar features with infantile MF. The lesions occur in 3 clinicopathologic settings: solitary, multicentric, and generalized and can be either sporadic or familial. Traditionally, infantile MF has been included in the spectrum of infantile hemangiopericytoma. The recent World Health Organization classification listed MF, angioleiomyoma, and myopericytoma under the general heading of perivascular tumors in the sense of a morphologic spectrum of perivascular myoid cell neoplasms...
October 21, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27751871/hif1%C3%AE-induced-pdgfr%C3%AE-signaling-promotes-developmental-hsc-production-via-il-6-activation
#18
Sung-Eun Lim, Virginie Esain, Wanda Kwan, Lindsay N Theodore, Mauricio Cortes, Isaura M Frost, Sarah Y Liu, Trista E North
Hematopoietic stem cells (HSCs) have the ability to both self-renew and differentiate each of the mature blood cell lineages and thereby reconstitute the entire blood system. Therefore, HSCs are therapeutically valuable for treatment of hematological malignances and bone marrow failure. We showed recently that transient glucose elevation elicited dose-dependent effects on HSCs through elevated metabolic activity and subsequent reactive oxygen species-mediated induction of Hypoxia-Inducible Factor 1α (Hif1α)...
October 15, 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27746819/myeloid-neoplasms-with-t-5-12-and-etv6-acsl6-gene-fusion-potential-mimickers-of-myeloid-neoplasm-with-pdgfrb-rearrangement-case-report-with-imatinib-therapy-and-review-of-the-literature
#19
Javier De Luca-Johnson, Jose I Ruades Ninfea, Lauren Pearson, Joanna Conant, Ronald Bryant, Neil A Zakai, Mary E Tang
We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27726124/primary-familial-brain-calcification-linked-to-deletion-of-5-noncoding-region-of-slc20a2
#20
P Pasanen, J Mäkinen, L Myllykangas, R Guerreiro, J Bras, M Valori, M Viitanen, M Baumann, P J Tienari, M Pöyhönen, P Baumann
OBJECTIVES: Primary familial brain calcification (PFBC) is a rare neurological disease often inherited as a dominant trait. Mutations in four genes (SLC20A2, PDGFB, PDGFRB, and XPR1) have been reported in patients with PFBC. Of these, point mutations or small deletions in SLC20A2 are most common. Thus far, only one large deletion covering entire SLC20A2 and several smaller, exonic deletions of SLC20A2 have been reported. The aim of this study was to identify the causative gene defect in a Finnish PFBC family with three affected patients...
October 10, 2016: Acta Neurologica Scandinavica
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