The Molecular Pathology of Blood Cancer: A Comprehensive Review of Chromosome and Genetic Abnormalities and Their Clinical Utility

Molecular pathology has, without a doubt, transformed the field of blood cancer. Thanks to pioneers such as Sanger and Mullis, techniques such as next- and third-generation sequencing, and whole exome sequencing have, alongside a revolution in bioinformatics, determined abnormalities in chromosomes and genes with exquisite sensitivity and specificity. These have contributed considerably not just to our understanding of the cell biology, aetiology, classification, and pathophysiology of blood cancer, but also to its diagnosis and management. Good examples of this include the ability to recognise and treat cases of aberrant tyrosine kinase activity with targeted inhibitors and the recognition that certain abnormalities are linked to a more severe outcome, so that focused treatment can begin. This review catalogues these discoveries and describes how they contribute to our understanding of, and thus the treatment of, lymphoma, leukaemia, myeloma, and other myeloproliferative, erythroid, megakaryocytic, and lymphoid neoplasms. Inevitably, as new techniques are developed, we can expect further advances in biomedical science in all aspects of blood cancer.