Molecular Genetic Tests for The Diagnosis of Haematological Malignancies: A Review

Abstract

Haematologic malignancy are blood and bone marrow disorders that account for about 9% of all cancers and are estimated to be the fourth most frequently diagnosed cancer in developed countries. They are made up of tumors of lymphoid, myeloid, histiocytic, and dendritic cell lineages with each disease defined based on the assemblage of its morphologic, clinical, biological features and the cell of origin. Haematologic malignancies can be grouped as leukaemia, lymphoma and myeloproliferative disorders depending on the cell lineage. Molecular genetic testing can be used to diagnose haematological malignancies in order to establish or confirm new diagnosis, determine disease stage, monitor the efficacy of therapy, detect minimal residual disease, and to predict outcome of treatment. This review involved the search of literatures on PubMed, Medline and Advanced Google search using the keywords described in this text with related articles pooled and relevant information extracted and properly referenced. The genetic tests will detect individual mutations in oncogenes; chromosomal translocations, deletions, and duplications; and clonality in lymphoma and leukaemia. Apart from cytogenetic which has its own disadvantages based on acquisition of a reliable bone marrow sample the more reliable molecular techniques developed include fluorescence in situ hybridization (FISH); Polymerase Chain Reaction (PCR); Reverse-Transcription Polymerase Chain Reaction (RT-PCR); Real-Time Quantitative Polymerase Chain Reaction (Q-PCR); DNA Sequencing; Aptamer-Conjugated Nanoparticles for Selective detection of leukaemic cells; and Next Generation Sequencing. The emergence of different molecular based genetic tests which are highly sensitive and specific have made it easier for prompt and accurate diagnosis of different haematological diseases with next generation sequencing being another great tool for identifying disease associated genetic changes in a genome-wide fashion.