Chapter 16 – Molecular Basis of Lymphoid and Myeloid Diseases

All types of mature blood cells are produced by differentiation of hematopoietic stem cells found in the bone marrow. This process is controlled by transcription factors, which in turn are regulated by other transcription factors, microRNAs, epigenetic modifications, and extracellular signals transmitted by cell surface receptors. Mutation of genes encoding these hematopoietic transcription factors, microRNAs, epigenetic modifiers, or receptors (or deregulated expression) can initiate transformation of normal cells into leukemic cells, or cause cell death and anemia. Diseases such as leukemia, lymphoma, and anemia are usually genetically complex, a large number of different mutations contribute to disease development, and most patients acquire more than one mutation. This genetic complexity has resulted in proposed new treatments based on individual patient leukemia genomes and/or immunotherapy.