Search results for "Ewing Sarcoma"

showing 8 items of 8 documents

The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.

2014

The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared …

MaleCancer ResearchCell Cycle Proteinsmedicine.disease_causeFusion geneCDKN2AMedicine and Health Sciences2.1 Biological and endogenous factorsAetiologyChildGenetics (clinical)CancerPediatricMutationTissue microarrayTumorGenomeSarcomasHigh-Throughput Nucleotide SequencingAntigens NuclearSarcomaNeoplasm ProteinsOncologyChild PreschoolFemaleSarcomaResearch ArticleBiotechnologyHumanAdultPediatric Research Initiativelcsh:QH426-470Cohesin complexAdolescentPediatric CancerEwing SarcomaSarcoma EwingBiologyDisease-Free SurvivalFrameshift mutationCell LineGermline mutationRare DiseasesCell Line TumorEwingCancer GeneticsmedicineGeneticsHumansNuclearGenetic TestingAntigensPreschoolMolecular BiologyEcology Evolution Behavior and SystematicsGenome HumanHuman GenomeBiology and Life SciencesCancers and NeoplasmsInfantmedicine.diseaselcsh:GeneticsOrphan DrugMutationCancer researchGene DeletionDevelopmental Biology
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Limberg fasciocutaneous transposition flap for the coverage of an exposed hip implant in a patient affected by ewing sarcoma

2017

Highlights • Hemipelvectomy with immediate reconstruction with prosthetic devices for the surgical treatment of malignant tumors is an invasive procedure. • The treatment of an exposed hip implant in these cluster of patient is extremely challenging and the literature shows how negative pressure wound therapy and myocutaneous, both pedicled and free, flaps are workhorses in these situations. • The literature shows that the gold standard in the coverage of exposed prosthetic devices and in the treatment of infected non healing wounds is represented by muscular or myocutaneous flap. • In this paper we report a successful coverage of exposed prosthetic hip implant with a local fasciocutaneous …

medicine.medical_specialtymedicine.medical_treatmentWound BreakdownWound healingArticleHemipelvectomy03 medical and health sciencesHip implant0302 clinical medicineHematomaNegative-pressure wound therapymedicineFasciocutaneous flapInvasive ProcedureHip implantbusiness.industrymedicine.diseaseSurgeryHemipelvectomy030220 oncology & carcinogenesisSeromaExposed implant030211 gastroenterology & hepatologySurgerySarcomabusinessEwing sarcomaInternational Journal of Surgery Case Reports
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Prognostic significance of miR-34a in Ewing sarcoma is associated with cyclin D1 and ki-67 expression.

2014

ABSTRACT Background At diagnosis, identification of reliable biological indicators of prognosis to allow stratification of patients according to different risks is an important but still unresolved aspect in the treatment of Ewing sarcoma (EWS) patients. This study aimed to explore the role of miR-34A expression on prognosis of EWS patients. Patients and methods Specimens from 109 patients with non-metastatic EWS treated at the Rizzoli Institute with neoadjuvant chemotherapy (protocols ISG/SSGIII, EW-1, EW-2, EW-REN2, EW-REN3, EW-PILOT) and 17 metastases were studied. Sixty-eight patients (62%) remained disease-free and 41 (38%) relapsed (median follow-up: 67 months, range 9–241 months). Ex…

AdultMalePrognosiHydro-Lyasemedicine.medical_treatmentSarcoma EwingDisease-Free SurvivalCyclin D1medicineHumansCyclin D1Neoplasm Metastasisprognostic biomarkerNeoadjuvant therapyHydro-LyasesAged 80 and overTissue microarraybiologybusiness.industryProportional hazards modelMedicine (all)Ewing's sarcomaMicroRNAHematologyMiddle Agedmedicine.diseasePrognosisNeoadjuvant TherapyNeoplasm MetastasiGene Expression Regulation NeoplasticMicroRNAsKi-67 AntigenTreatment OutcomeOncologyDrug Resistance NeoplasmKi-67biology.proteinCancer researchKi-67ImmunohistochemistryFemaleSarcomacyclin D1; Ewing sarcoma; Ki-67; miR-34a; prognostic biomarkers; Adult; Aged 80 and over; Cyclin D1; Disease-Free Survival; Drug Resistance Neoplasm; Female; Gene Expression Regulation Neoplastic; Humans; Hydro-Lyases; Ki-67 Antigen; Male; MicroRNAs; Middle Aged; Neoadjuvant Therapy; Neoplasm Metastasis; Prognosis; Sarcoma Ewing; Treatment Outcome; Medicine (all)businessEwing sarcomamiR-34aHumanAnnals of oncology : official journal of the European Society for Medical Oncology
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Ewing sarcoma family of tumors: Causes, diagnosis and treatment

2019

The Ewing's sarcoma Family of Tumors (EFT) includes classic Ewing's Sarcoma (ES) of bone, Extraskeletal Ewing's Sarcoma (EES) and malignant peripheral primitive Neuroectodermal Tumor (pNET) of bone and soft tissue. ES is an aggressive tumor with a high incidence of local recurrence and distant metastasis. The skeletal form is more common and typically occurs in the long bones of the extremities. The extra skeletal form occurs in the soft tissues of the lower extremities, paravertebral tissues, chest wall, retroperitoneum and rarely in the head and neck region in about 1-4% of cases. Involvement of the head and neck is usually identified in the nasal or oral cavities, sinuses or soft tissues…

Settore MED/31 - OtorinolaringoiatriaNeuroectodermal TumorEwing sarcomaSettore MED/32 - Audiologia
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Abstract PR10: Inhibition of deacetylase SIRT1 offers a novel treatment option in metastatic Ewing sarcoma

2014

Abstract Metastasis is the major cause of disease-related death in Ewing sarcoma. Patients, who present with clinically overt disseminated disease at diagnosis and those who relapse early with distant metastases have a poor outcome despite multi-modal high-dose chemotherapy. Therefore, new treatment options are highly warranted. Ewing sarcoma pathogenesis is driven by the chimeric ETS oncogene EWS-FLI1. We here describe regulation of sirtuin SIRT1 by EWS-FLI1 and its role in metastasis. SIRT1 belongs to a family of NAD+-dependent group III deacetylases that target histone and non-histone proteins in response to metabolic stress resulting in widespread gene expression changes through epigene…

Cancer ResearchPathologymedicine.medical_specialtyOncogeneNotch signaling pathwayBiologymedicine.diseasePediatric cancerPrimary tumorMetastasisOncologyMetastatic Ewing SarcomaSirtuinCancer researchbiology.proteinmedicineSarcomaCancer Research
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Diagnosis and treatment of Ewing's Sarcoma of the tongue

2019

The Ewing's sarcoma Family of Tumors (EFT) includes classic Ewing's Sarcoma (ES) of bone, Extraskeletal Ewing's Sarcoma (EES) and malignant peripheral primitive Neuroectodermal Tumor (pNET) of bone and soft tissue. ES is an aggressive tumor with a high incidence of local recurrence and distant metastasis. The skeletal form is more common and typically occurs in the long bones of the extremities. The extra skeletal form occurs in the soft tissues of the lower extremities, paravertebral tissues, chest wall, retroperitoneum and rarely in the head and neck region in about 1- 4% of cases. Involvement of the head and neck is usually identified in the nasal or oral cavities, sinuses or soft tissue…

Settore MED/31 - OtorinolaringoiatriaEwing SarcomaSettore MED/32 - Audiologia
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1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma

2012

12 páginas, 6 figuras, 1 tabla.-- et al.

AdultMaleCancer ResearchCandidate geneAdolescentDNA Copy Number VariationsUbiquitin-Protein Ligasesclinical outcomeBone NeoplasmsSarcoma EwingBiologyBioinformaticsPolymorphism Single NucleotideTranscriptomeIn vivoCell Line TumorGeneticsmedicineHumansChildMolecular BiologymicroarraysAgedCell ProliferationAged 80 and overCell CycleComputational BiologyInfantNuclear ProteinsMiddle Agedmedicine.disease1q GainIn vitroChromosomes Human Pair 1Child PreschoolCancer researchImmunohistochemistryFemaleCDT2SarcomaDNA microarrayEwing sarcomaComparative genomic hybridization
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The first European interdisciplinary ewing sarcoma research summit.

2012

This is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License.-- et al.

EpigenomicsCancer ResearchAlternative medicineMedizinComputingMilieux_LEGALASPECTSOFCOMPUTINGReview ArticleBioinformatics[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologydrug screen0302 clinical medicineDrug screenCancer genomicssignallingSarcomagenesis0303 health sciencessarcomagenesisSummitgeography.geographical_feature_categoryOpinion leadershipGenomicsLaboratory resultslcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisanimal models3. Good healthAnimal modelsMetastatic Ewing SarcomaOncology030220 oncology & carcinogenesis[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]EpigeneticsSarcomaImmunotherapyPrioritizationmedicine.medical_specialty[SDV.CAN]Life Sciences [q-bio]/Cancerlcsh:RC254-28203 medical and health sciences[SDV.CAN] Life Sciences [q-bio]/Cancer[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]medicinegenomics030304 developmental biologyMedical educationgeographyepigeneticsbusiness.industrybiomarkers[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologymedicine.diseaseClinical trialprognosisbusinessBiomarkersEwing sarcomaFrontiers in oncology
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