Hematologic malignancies represent a diverse group of neoplastic conditions that arise from hematopoietic cells. Myeloid neoplasms represent clonal expansions of myeloid progenitors and are encompassed by myeloproliferative neoplasms, myelodysplastic syndromes, and acute myeloid leukemia. Similarly, lymphoid neoplasms are composed of clonal expansions of either precursor B/T or mature B/T lymphocytes of varying stages of differentiation. Importantly, the current World Health Organization Classification of Tumors of Hematopoietic and Lymphoid Tissues utilizes an integrated approach for incorporation of clinical, morphologic, and genetic features (WHO classification of tumours of haematopoietic and lymphoid tissues, Lyon, France, International Agency for Research on Cancer, 2008). The complex genetic abnormalities identified in these tumors have necessitated the transition from a single gene testing paradigm to that of multiple gene/panel testing or profiling. Moreover, rapid advances in the elucidation of genetic alterations of leukemias and lymphomas have highlighted the increasingly important role of molecular analysis in diagnosis, disease monitoring, and therapy. Continued advances will significantly impact the importance of molecular testing in the personalized management of patients with hematologic malignancies. In this chapter, we provide an updated summary of the application of the commonly used molecular testing approaches with a focus on practical aspects of molecular testing for myeloid and lymphoid malignancies.
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