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Article
Open AccessGenome characterization and CRISPR-Cas9 editing of a human neocentromere
The maintenance of genome integrity is ensured by proper chromosome inheritance during mitotic and meiotic cell divisions. The chromosomal counterpart responsible for chromosome segregation to daughter cells i...
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Article
Open AccessThe genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis
Erythrocytosis is a clinical condition characterized by increased red cell mass, hemoglobin, and hematocrit values. A significant fraction of patients is described as having idiopathic erythrocytosis. We have ...
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Article
Open AccessIRF4 expression is low in Philadelphia negative myeloproliferative neoplasms and is associated with a worse prognosis
Interferon regulatory factor 4 (IRF4) is involved in the pathogenesis of various hematologic malignancies. Its expression has been related to the negative regulation of myeloid-derived suppressor cells (MDSCs) an...
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Article
Open AccessInside the biology of early T-cell precursor acute lymphoblastic leukemia: the perfect trick
Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a rare, distinct subtype of T-ALL characterized by genomic instability, a dismal prognosis and refractoriness to standard chemotherapy. Since it...
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Article
Open AccessNanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
The evaluation of the somatic hypermutation of the clonotypic immunoglobulin heavy variable gene has become essential in the therapeutic management in chronic lymphocytic leukemia patients. European Research I...
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Article
Erythrocytosis with JAK2 GGCC_46/1 haplotype and without JAK2 V617F mutation is associated with CALR rs1049481_G allele
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Open AccessDroplet digital PCR for the quantification of Alu methylation status in hematological malignancies
Alu repeats, belonging to the Short Interspersed Repetitive Elements (SINEs) class, contain about 25% of CpG sites in the human genome. Alu sequences lie in gene-rich regions, so their methylation is an import...
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Article
Open AccessDesign and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia
We report a customized gene panel assay based on multiplex long-PCR followed by third generation sequencing on nanopore technology (MinION), designed to analyze five frequently mutated genes in chronic lymphoc...
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Article
Open AccessTP53 gene mutation analysis in chronic lymphocytic leukemia by nanopore MinION sequencing
The assessment of TP53 mutational status is becoming a routine clinical practice for chronic lymphocytic leukemia patients (CLL). A broad spectrum of molecular techniques has been employed so far, including both ...
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Article
Droplet digital PCR assay for quantifying of CALR mutant allelic burden in myeloproliferative neoplasms
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BCR–ABL1 e6a2 transcript in chronic myeloid leukemia: biological features and molecular monitoring by droplet digital PCR
The BCR–ABL1 fusion on the Philadelphia (Ph) chromosome is a hallmark of chronic myeloid leukemia (CML). More than 95 % of BCR–ABL1 transcripts in CML are either e13a2 or e14a2 (major breakpoint cluster region or...
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Article
Open AccessADAMTS2 gene dysregulation in T/myeloid mixed phenotype acute leukemia
Mixed phenotype acute leukemias (MPAL) include acute leukemias with blasts that express antigens of more than one lineage, with no clear evidence of myeloid or lymphoid lineage differentiation. T/myeloid (T/My...
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Open Access5‘RUNX1-3’USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications
The runt-related transcription factor 1 (RUNX1) gene is a transcription factor that acts as a master regulator of hematopoiesis and represents one of the most frequent targets of chromosomal rearrangements in hum...
