0000000000787883

AUTHOR

Carlo Alberto Sagramoso Sacchetti

showing 2 related works from this author

SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.

2011

The molecular pathogenesis of primary mielofibrosis (PMF) is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A) allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD) at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q), del(20q), del(13q), +8, aUPD at 9p24 and abnormalities on chromosome 1). In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytob…

MaleMicroarraysMIELOFIBROSISChromosomes Human Pair 20Loss of Heterozygositylcsh:MedicineLoss of heterozygosityCohort StudiesHematologic Cancers and Related DisordersGene duplicationTaq Polymeraselcsh:ScienceOligonucleotide Array Sequence AnalysisMultidisciplinaryMYELOFIBROSIS; SNPKaryotypeGenomicsHematologyUniparental disomyMedicineFemaleImmunohistochemical AnalysisSNP arrayResearch ArticleTest Evaluationmedicine.medical_specialtyDNA Copy Number VariationsImmunologySNPLocus (genetics)Single-nucleotide polymorphismReceptors Cell SurfaceBiologyPolymorphism Single NucleotideDiagnostic MedicinemedicineGeneticsHumansBiologyAgedEvolutionary BiologyMyeloproliferative DisordersPopulation Biologylcsh:RCytogeneticsGene AmplificationComputational BiologyDNAUniparental Disomymedicine.diseaseMolecular biologyMYELOFIBROSISPrimary MyelofibrosisKaryotypingGenetic PolymorphismImmunologic TechniquesClinical Immunologylcsh:QPopulation GeneticsPLoS ONE
researchProduct

Pathogenetic and diagnostic significance of microRNA deregulation in peripheral T-cell lymphoma not otherwise specified

2014

Peripheral T-cell lymphomas not otherwise specified (PTCLs/NOS) are rare and aggressive tumours whose molecular pathogenesis and diagnosis are still challenging. The microRNA (miRNA) profile of 23 PTCLs/NOS was generated and compared with that of normal T-lymphocytes (CD4+, CD8+, naive, activated). The differentially expressed miRNA signature was compared with the gene expression profile (GEP) of the same neoplasms. The obtained gene patterns were tested in an independent cohort of PTCLs/NOS. The miRNA profile of PTCLs/NOS then was compared with that of 10 angioimmunoblastic T-cell lymphomas (AITLs), 6 anaplastic large-cell lymphomas (ALCLs)/ALK+ and 6 ALCLs/ALK - . Differentially expressed…

Female; Gene Expression Profiling; Humans; Lymphoma T-Cell Peripheral; Male; MicroRNAs; Oligonucleotide Array Sequence Analysis; RNA Neoplasm; Gene Expression Regulation Neoplastic; Oncology; Hematology; Medicine (all)Malemedicine.medical_specialtyPathologyPeripheral T-cell lymphoma not otherwise specifiedBiologyhemic and lymphatic diseasesInternal medicinemicroRNAmedicineHumansRNA NeoplasmOligonucleotide Array Sequence AnalysisRegulation of gene expressionHematologymicroRNA; PTCLs/NOS; GEPOligonucleotide Array Sequence AnalysiGene Expression ProfilingMedicine (all)Not Otherwise SpecifiedLymphoma T-Cell PeripheralMicroRNAHematologymedicine.diseaseGEPLymphomaGene expression profilingGene Expression Regulation NeoplasticMicroRNAsOncologyPTCLs/NOSOriginal ArticleFemaleCD8Human
researchProduct