Blood Res.  2013 Dec;48(4):242-249. 10.5045/br.2013.48.4.242.

Next generation sequencing: new tools in immunology and hematology

• Mori A
• Deola S
• Xumerle L
• Mijatovic
• Malerba G
• Monsurro V

• KMID: 2172870
• DOI: http://doi.org/10.5045/br.2013.48.4.242

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.

Keyword

Next generation sequence; Immune monitoring; T cell receptor; B cell receptor

MeSH Terms

Allergy and Immunology*
Antibodies, Monoclonal
Bone Marrow Transplantation
Diagnosis
Gene Expression
Genome
Hematologic Neoplasms
Hematology*
Immune System
Microarray Analysis
Monitoring, Immunologic
Neoplasm, Residual
Population Characteristics
Receptors, Antigen, T-Cell
Recombination, Genetic
Sensitivity and Specificity
Antibodies, Monoclonal
Receptors, Antigen, T-Cell

Figure

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  Fig. 1 Next generation sequencing second-generation platforms: comparison and workflow.

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