|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 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 | Hydrated tetrabutylammonium fluoride as a powerful nucleophilic fluorinating agent 显示文摘 | Albaneae D Landini D Penso M | 1998 | J Org Chem1998，63，25： | 1 |
| 3 | Reduction of allylic nitro compounds to oximes with carbon disulfide under solid-liquid phase-transfer catalysis conditions 显示文摘 | Dario Landini Michele Penso | 1990 | Synthesis1990，，4： | 1 |
| 4 | Understanding failure mechanisms to improve reliability of coke drums显示文摘 | Penso J A Lattarulo Y M Seijas A J | 1999 | American Society of Mechanical Engineers Pressure Vessels and Piping Division (Publication) PVP1999，395，： | 1 |
| 5 | Detachment of glycolytic enzymes from cytoskeleton of Lewis lung carcinoma and colon adenocarcinoma cells induced by clotrimazole and its correlation to cell viability and morphology 显示文摘 | Penso J Beitner R | 2002 | Mol Genet Metab2002，76，3： | 1 |
| 6 | Detachment of glycolytic enzymes from cytoskeleton of Lewis lung carcinoma and colon adenocarcinoma cells induced by clotrimazole and its correlation to cell viability and morphology显示文摘 | Penso J Beitner R | 2002 | Mol Genet Metab2002，76，3： | 1 |
| 7 | Chemoselective N- alkylation of di-N, O-protected tyrosine through specific oxy-anion solvation by non-hydrogen bonding donor sol- vents 显示文摘 | Penso M Albanese D Landini D | 2006 | Synlett2006，5，： | 1 |
| 8 | Lithium detaches hexokinase from mito- ehondria and inhibits proliferation of B16 melanoma cells显示文摘 | Penso J Beitner R | 2003 | Mol Genet Metab2003，78，1： | 1 |
| 9 | Clotrimazole and bifonazole detach hexokinase from mitochondria of melanoma cells 显示文摘 | Penso J Beitner R | 1998 | Eur J Pharmacol1998，342，1： | 1 |
| 10 | Detachment of glycolytic enzymes from cytoskeleton of Lewis lung carcinoma and colon adenocarcinoma cells induced by clotrimazole and its correlation to cell viability and morphology显示文摘 | PENSO J BEITNER R | 2002 | Mol Genet Metab2002，76，3： | 1 |
| 11 | Lithium detaches hexokinase from mitochon- dria and inhibits proliferation of B16 melanoma cells 显示文摘 | Penso J Beitner R | 2003 | Mol Genet Metab2003，78，1： | 1 |
| 12 | Tetrabutylammonium Fluoride: A Powerful Catalyst for the Regioselective Opening of Epoxides with Thiols显示文摘 | Albanese D Landini D Penso M | 1994 | Synthesis1994，1，： | 1 |
| 13 | Lithium detaches hexokinase from mitochondria and inhibits proliferation of B16 melanoma cells显示文摘 | Penso J Beitner R | 2003 | Mol Genet Metab2003，78，1： | 1 |
| 14 | Lithium detaches hexokinase from mitochondria and inhibits proliferation of B16 melanoma cells显示文摘 | Penso J Beitner R | | 0，，： | 1 |
| 15 | Highly efficient NaOCl olefin epoxidations catalyzed by inidazole or pyridine 'tailed' manganese porphyrias under twophase condition显示文摘 | Montanari F Penso M Quici S | | 0，，50： | 1 |
| 16 | Understanding Failure Mechanisms to Improver Eliability of Coke Drums 显示文摘 | Penso J A Latarulo Y M Seijas A J | 1999 | ASME PVP - Operations Applica- tions and Components1999，395，： | 1 |
| 17 | Detachment of glycolytic enzymes from cytoskeleton of Lewis lung carcinoma and colon adenocarcinoma cells induced by clotrimazole and its correlation to cell viability and morphology显示文摘 | Penso J Beitner R | 2002 | Mol Genet Metab2002，76，3： | 1 |
| 18 | Lithium detaches hexokinase from mitoehondria and inhibits proliferation of B16 melanoma cells显示文摘 | Penso J Beitner R | 2003 | Mol Genet Metab2003，78，1： | 1 |
| 19 | Toxic epidermal necrolysis:clinical findings and prognosis factors in 87 patients显示文摘 | Ravuz J Penso D Roujeau JC | 1987 | Arch Dermatol1987，123，： | 1 |
| 20 | Chemose- lective N-alkylation of di-N, O-protected tyrosine through specific oxy-anion solvation by non-hydrogen bonding do- nor solvents 显示文摘 | PENSO M ALBANESE D LANDINI D | 2006 | Synlett2006，5，： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员