Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients.

According to current guidelines, in chronic lymphocytic leukemia (CLL), only the TP53 molecular status must be evaluated prior to every treatment's initiation. However, additional heterogeneous genetic events are known to confer a proliferative advantage to the tumor clone and are associated with progression and treatment failure in CLL patients. Here, we describe the implementation of a comprehensive targeted sequencing solution that is suitable for routine clinical practice and allows for the detection of the most common somatic single-nucleotide and copy number variants in genes relevant to CLL. We demonstrate that this cost-effective strategy achieves variant detection with high accuracy, specificity, and sensitivity. Furthermore, we identify somatic variants and copy number variations in genes with prognostic and/or predictive value, according to the most recent literature, and the tool provides evidence about subclonal events. This next-generation sequencing (NGS) capture-based target assay is an improvement on current approaches in defining molecular prognostic and/or predictive variables in CLL patients.

Automated neutrophil morphology and its utility in the assessment of neutrophil dysplasia.

The automated hematology cell analyzer Coulter LH 750 (Beckman Coulter, Brea, CA, USA) uses a combination of 3 measurements-volume, conductivity, and scatter-to identify cells, but it could take advantage of these parameters to evaluate their morphologic changes. The neutrophil mean cell volume (MNEV), mean cell conductivity (MNEC), and mean cell scatter (MNES) were evaluated in 54 patients with myelodysplastic syndrome (MDS), 18 with chronic myelomonocytic leukemia (CMML), and 59 healthy controls. MNES and MNEC in the MDS group including all subtypes (World Health Organization classification) and in the CMML patients were significantly lower than the control group. MNES in MDS and CMML correlated well with the cytoplasmic hypogranularity evaluated by microscopic observation (P = .01). The value of MNES and MNEC as screening parameters in the neutrophil dysplasia evaluation showed, for this study, a sensitivity of 71.8% with a specificity of 86.4% (area under the curve [AUC], 0.817) and a cutoff of <139.3 for MNES and a sensitivity of 70.4% with a specificity of 76.3% (AUC, 0.752) and a cutoff of <150.9 for MNEC.