[Frontiers in Bioscience 19, 1088-1104, June 1, 2014]

The role of molecular biology in the diagnosis of lymphoid neoplasms

Marco Pizzi1, Anna Gazzola2, Claudia Mannu2, Stefano A. Pileri2, Elena Sabattini2

1Department of Medicine, DIMED, General Pathology,Cytopathology Unit, University of Padova, Padova, Italy. 2Hematopathology, Haematology Sections, Department of Experimental, Diagnostic and Specialty Medicine, Sant'Orsola, Malpighi Hospital, University of Bologna, Bologna, Italy

TABLE OF CONTENTS

1. Abstract
2. Introduction
3. Molecular biology in routine diagnostic practice
3.1. Chromosomal aberrations
3.1.1. Lymphomas associated with translocation t(14;18)(q32;q21)
3.1.2. Lymphomas associated with translocation t(11;14)(q13;q32)
3.1.3. Lymphomas associated with BCL6 translocations
3.1.4. Lymphomas associated with MYC translocations
3.1.5. MALT lymphoma-associated translocations
3.1.6. Translocations associated to ALK-positive anaplastic large cell lymphoma
3.2. Antigen receptor genes
3.2.1. PCR clonality tests
4. Novel Molecular Approaches in the study and diagnosis of lymphoid neoplasm
4.1. DNA Microarrays in the study of lymphoid neoplasms
4.1.1. The role of CGH-arrays in the study of lymphoid neoplasms
4.1.2. The role of SNP-arrays in the study of lymphoid neoplasms
4.2. Gene expression profiling (GEP) in the study of lymphoid neoplasms
4.2.1. GEP in the study of non-Hodgkin B-cell lymphomas
4.2.2. GEP in the study of non-Hodgkin T-cell lymphomas
4.3. Next-generation sequencing in the study of lymphoid neoplasms
5. Conclusions
6. Acknowledgement
7. References

1. ABSTRACT

In recent years, DNA-arrays, gene expression profiling and next-generation sequencing have elucidated the high complexity of genomic alterations occurring in lymphoid malignancies. These studies have also contributed to the identification of new diagnostic and prognostic biomarkers, which may represent possible targets for new therapeutic approaches. Such recent advances have significantly expanded the application of molecular tests to routine diagnostic hematopathology. It is thus conceivable that next-generation assays will soon flank traditional clonality tests and chromosomal translocation assays in the diagnostic work-up of difficult cases. This review is focused on the application of molecular biology techniques in the study of lymphoid tumors. Both conventional and next-generation tests will be addressed, with particular attention to their application to clinical practice.