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| 1 | The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial-mesenchymal transition, and immune response显示文摘Background:Desmoplastic small round cell tumor(DSRCT)is a rare,aggressive,and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1(EWSR1)-Wilm’s tumor suppressor(WT1)translocation.We used whole-exome sequencing to interrogate six consecutive pretreated DSRCTs whose gene expression was previously investigated.Methods:DNA libraries were prepared from formalin-fixed,paraffin-embedded archival tissue specimens following the Agilent SureSelectXT2 target enrichment protocol and sequenced on Illumina NextSeq 500.Raw sequence data were aligned to the reference genome with Burrows-Wheeler Aligner algorithm.Somatic mutations and copy number alterations(CNAs)were identified using MuTect2 and EXCAVATOR2,respectively.Biological functions associated with altered genes were investigated through Ingenuity Pathway Analysis(IPA)software.Results:A total of 137 unique somatic mutations were identified:133 mutated genes were case-specific,and 2 were mutated in two cases but in different positions.Among the 135 mutated genes,27%were related to two biological categories:DNA damage-response(DDR)network that was also identified through IPA and mesenchymal-epithelial reverse transition(MErT)/epithelial-mesenchymal transition(EMT)already demonstrated to be relevant in DSRCT.The mutated genes in the DDR network were involved in various steps of transcription and particularly affected pre-mRNA.Half of these genes encoded RNA-binding proteins or DNA/RNA-binding proteins,which were recently rec-ognized as a new class of DDR players.CNAs in genes/gene families,involved in MErT/EMT and DDR,were recurrent across patients and mostly segregated in the MErT/EMT category.In addition,recurrent gains of regions in chromosome 1 involving many MErT/EMT gene families and loss of one arm or the entire chromosome 6 affecting relevant immune-regulatory genes were recorded.Conclusions:The emerging picture is an extreme inter-tumor heterogeneity,characterized by the concurrent deregulation of the DDR and MErT/EMT dynamic and plastic programs that could favour genomic instability and explain the refractory DSRCT profile. | Andrea Devecchi Loris De Cecco Matteo Dugo Donata Penso Gianpaolo Dagrada Silvia Brich Silvia Stacchiotti Marialuisa Sensi Silvana Canevari Silvana Pilotti | 2018 | Cancer Communications2018，38，1： | 2 |
| 2 | Specific impairment of human platelet P2Y(AC) ADP receptor-mediated signaling by the antiplatelet drug clopidogrel显示文摘 | Geiger J Brich J Honig-Liedl P | 1999 | Arterioscler Thromb Vasc Biol1999，19，8： | 1 |
| 3 | Understanding the limitations of radiation-induced cell cycle checkpoints显示文摘 | Deckbar D Jeggo PA L246 brich M | 2011 | Crit Rev Biochem Mol Biol2011，46，4： | 1 |
| 4 | Pillared clays 显示文摘 | Brich R | 1988 | Catalysis Today1988，3，2： | 1 |
| 5 | Palate rerepair revisited显示文摘 | Sommerlad BC Mehendale FV Brich MJ | 2002 | Cleft Palate Craniofac J2002，39，3： | 1 |
| 6 | Feasibility, acceptance and impact of team-based learning in neurology: a pilot study显示文摘 | Brich J | 2013 | GMS Z Med Ausbild2013，30，2： | 1 |
| 7 | Theimportance of atmospheric ozone and hydrogen peroxidein oxidizing sulfur dioxide in cloud and rain water显示文摘 | Penkett S A Jones B M R Brich K A | 1979 | Atmospheric Environment1979，，13： | 1 |
| 8 | Specific impair mento human platelet P2Y (AC) ADP receptor mediated signaling by the antiplatelet drug clopidogrel显示文摘 | Geiger J Brich J Honig Liedl P | 1999 | Arterioscler Thromb Vas Biol1999，19，8： | 1 |
| 9 | Specific impairment of hu- man platelet P2Y (AC)ADP receptor-mediated signaling by the anti- platelet drug clopidogrel 显示文摘 | Geiger J Brich J Honig-Liedl P | 1999 | Arteriosder Thromb Vasc Biol1999，19，8： | 1 |
| 10 | Verruciform xanthoma of the nose 显示文摘 | Than T Brich P J Dawes P J | 1999 | J Laryngol Otol1999，113，1： | 1 |
| 11 | The velocity of compressional waves in rocks to 10kilobars-Part 2显示文摘 | Brich F | 1961 | Journal of Geophysical Research1961，66，7： | 1 |
| 12 | Spanwise flow and the attachment of the leading-edge vortex on insect wings显示文摘 | Dickinson M H | 2001 | Nature2001，412，： | 1 |
| 13 | Source of heavy metals in sediments of the Port Jackson estuary,Australia显示文摘 | Brich G Taylor S | | 0，，： | 1 |
| 14 | Specific impairment of human platelet P2Y (AC) ADP receptor mediated signaling by the antiplatelet drug clopidogrel 显示文摘 | Geiger J Brich J Honig Liedl P | 1999 | Arterioscler Thromb Vasc Biol1999，19，8： | 1 |
| 15 | Non-random distribution of DNA double-strand breaks induced by particle irradiation 显示文摘 | LBRICH M COOPER P K RYDBERG B | 1996 | Int J Radiat Biol1996，70，55： | 1 |
| 16 | Kinetics of the wood im- pregnation process: modeling and experiment 显示文摘 | Brich M A Kozhin V P Shchitnikov V K | 1999 | Journal of Engi- neering Physics and Thermophysies1999，72，4： | 1 |
| 17 | Palate repair revisited 显示文摘 | Sommerlad B C mehendale F V Brich M J | 2002 | Cleft Palate Craniofac J2002，39，3： | 1 |
| 18 | Specific impairment of human platelet P2Y(AC) ADP receptor mediated signaling by the antiplatelet drug clopidogrel显示文摘 | Geiger J Brich J Honig - Liedl P | 1999 | Arterioscler Thromb Vasc Bio11999，19，8： | 1 |
| 19 | Relation between left atrial dimension and duration of atrial fibrillation显示文摘 | Petersen P Kastrup J Brich K | 1987 | Am J Cardial1987，60，4： | 1 |
| 20 | Genotyping of Eseheriehia Coli O157 Isolates by Random Amplification of Ploymorphic DNA显示文摘 | Brich M Denning DW Law D | 1996 | Eur J Clin Microbiol Infect Dis1996，15，4： | 1 |
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