Molecular Diagnosis of the Hematologic Cancers

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Abstract
The diagnosis of the hematologic cancers presents a daunting challenge. The many stages of normal hematopoietic differentiation give rise to a number of biologically and clinically distinct cancers. Inherited DNA-sequence variants do not appear to have a prominent causative role; rather, these diverse cancers are typically initiated by acquired alterations to the genome of the cancer cell, such as chromosomal translocations, mutations, and deletions. The diagnosis of the hematologic cancers is commonly based on morphologic evaluation supplemented by analysis of a few molecular markers. However, in some diagnostic categories defined in this fashion, the response of patients to treatment is markedly heterogeneous, arousing the suspicion that there can be several molecularly distinct diseases within the same morphologic category.