Project description:Here we characterized a series of 14 cases with myeloid neoplasms using cytogenetic, single nucleotide polymorphism array, and next generation sequencing.
Project description:Here we characterized a series of cases with myeloid neoplasms using cytogenetic, single nucleotide polymorphism array, and next generation sequencing.
Project description:Nanopore Sequencing for the screening of Myeloid and Lymphoid neoplasms with eosinophilia and rearrangement of PDGFRa, PDGFRb, FGFR1 or PCM1-JAK2.
Project description:The EBF1-PDGFRB gene fusion accounts for <1% B-cell precursor acute lymphoblastic leukaemia and occurs within the Philadelphia-like ALL subtype. We performed Affymetrix SNP 6.0 array was undertaken patients who tested positive for EBF1-PDGFRB rearrangement by FISH and/or RT-PCR. We performed Affymetrix SNP 6.0 array on genomic DNA extracted from bone marrow samples taken at diagnosis in 9 patients, at relapse in one patient and at remission in one patient.
Project description:The EBF1-PDGFRB gene fusion accounts for <1% B-cell precursor acute lymphoblastic leukaemia and occurs within the Philadelphia-like ALL subtype. We performed Affymetrix SNP 6.0 array was undertaken patients who tested positive for EBF1-PDGFRB rearrangement by FISH and/or RT-PCR.
Project description:Primary Eosinophilic Disorders (PED) represent a group of diseases with heterogeneous pathophysiology and diversified clinical phenotypes. Among the clonal alterations found in PED, gene fusions involving PDGFR, PDGFR, FGFR1 or JAK2 cluster in the WHO category of myeloid and lymphoid neoplasms with eosinophilia. The heterogeneous nature of genomic aberrations and the promiscuity of fusion partners, may limit the diagnostic accuracy of conventional cytogenetic approaches. To address such technical challenges, we exploited a nanopore-based sequencing platform to screen a cohort of patients referred for the characterization of a PED. We show that nanopore sequencing enables fast (within 60 hours) and precise identification of genomic fusion events, starting from whole blood DNA.