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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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Article
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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Article
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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IgG-lymphoplasmacytic lymphoma following polycythemia vera: JAK2 V617F and MYD88 L265P mutations separated in the same house
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Open AccessGene expression profiling of chronic myeloid leukemia with variant t(9;22) reveals a different signature from cases with classic translocation
The t(9;22)(q34;q11) generating the BCR/ABL1 fusion gene represents the cytogenetic hallmark of chronic myeloid leukemia (CML). About 5–10% of CML cases show variant translocations with the involvement of other c...
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Article
A complex karyotype including a t(2;11) in a paediatric ependymoma: case report and review of the literature
Ependymomas are glial tumours representing approximately 5–10% of all intracranial tumours and are the third most common primary brain tumour in childhood. Only a few karyotypic studies on paediatric ependymom...
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Open AccessBone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation
Chromosomal translocations play a crucial role in tumorigenesis, often resulting in the formation of chimeric genes or in gene deregulation through position effects. T-cell acute lymphoblastic leukemia (T-ALL)...
