Next generation sequencing: new tools in immunology and hematology

Abstract

One of the hallmarks of the adaptive immune system is the specificity of B and T cell receptors. Thanks to somatic recombination, a large repertoire of receptors can be generated within an individual that guarantee the recognition of a vast number of antigens. Monoclonal antibodies have limited applicability, given the high degree of diversity among these receptors, in BCR and TCR monitoring. Furthermore, with regard to cancer, better characterization of complex genomes and the ability to monitor tumor-specific cryptic mutations or translocations are needed to develop better tailored therapies. Novel technologies, by enhancing the ability of BCR and TCR monitoring, can help in the search for minimal residual disease during hematological malignancy diagnosis and follow-up, and can aid in improving bone marrow transplantation techniques. Recently, a novel technology known as next generation sequencing has been developed; this allows the recognition of unique sequences and provides depth of coverage, heterogeneity, and accuracy of sequencing. This provides a powerful tool that, along with microarray analysis for gene expression, may become integral in resolving the remaining key problems in hematology. This review describes the state of the art of this novel technology, its application in the immunological and hematological fields, and the possible benefits it will provide for the hematology and immunology community.

Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations

“…Recent high throughput sequencing technologies may be useful for detecting mutations in a number of target genes [19, 31, 32]. Compared to the whole genome or exome sequencing with highly sophiscated, time-consuming and intensive efforts, targeted gene sequencing may be a practical and ideal method for clinical testing in AML, with low cost, short turnaround time and less burden for bioinformatics [31, 33, 34].…”

DNMT3A R882 Mutation with FLT3-ITD Positivity Is an Extremely Poor Prognostic Factor in Patients with Normal-Karyotype Acute Myeloid Leukemia after Allogeneic Hematopoietic Cell Transplantation

“…A comprehensive analysis of genetic modifications in patients with AML identified the recurrent mutations involved in epigenetic regulation of transcription [41][42][43]. The DNMT3A, TET2, and IDH1/2 mutations, which result in alterations in DNA methylation, are the most commonly occurring mutations found in patients with AML, particularly those with NK-AML [41,42].…”

Clinical value of Pro‑GRP and T lymphocyte subpopulation for the assessment of immune functions of lung cancer patients after DC‑CIK biological therapy

“…are the key immunocompetent cells of the body that have important functions in immune monitoring, killing of target cells and immune adjustment (9). When the number of T lymphocytes in patients with lung cancer changes or Table III.…”