Project description:Genome-wide copy number analysis using SNP-arrays (OncoScans) in multinodular goitres from individuals with the c.1552G>A;p.E518K mutation in DGCR8 show allelic imbalance at Chr22 in all samples. Likewise this event is confirmed in papillary thyroid tumors harboring the same alteration somatically. The only alteration common in all MNG and FvPTC samples was the allelic imbalance at the Chr22 in line with all samples showing an homozygous genotype at the DGCR8 locus
Project description:Molecular profiling of indolent primary renal B-Cell lymphomas identifies unique pathogenetic mechanisms and parallels with lymphomas from other origins. Here, we used Affymetrix OncoScan CNV arrays to characterise somatic copy number variations in 33 pr-iNHL cases.
Project description:Molecular profiling of primary renal diffuse large B cell lymphoma unravels a proclivity for immune-privileged organ-tropism. Here, we used Affymetrix OncoScan CNV arrays to characterise somatic copy number variations in 29 prDLBCL cases.
Project description:Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive malignancy assumed to originate from plasmacytoid dendritic cells (pDCs), which affects the skin and bone marrow and sequentially other organ systems. Here, we used Affymetrix OncoScan CNV arrays to characterize somatic copy number variations in 45 BPDCN cases.