Molecular Pathology of Hematologic Neoplasms

Insights into the vast spectrum of genetic abnormalities that are required to initiate and to sustain hematologic neoplasms continue to evolve from fragmented accounts based on restricted lines of investigation into a much more comprehensive view of how the multitude of facets (gene fusions and dysregulation through gross chromosomal abnormalities, mutations, epigenetic transcription control through DNA and chromatin modifications, and alterations in the noncoding genome, among others) interact. Disruptive technologies such as next-generation sequencing have dramatically altered our understanding by facilitating an assessment of the panoply of genetic aberrations that drive hematologic neoplasms, opening the door to a more refined manner in which we can diagnose, prognosticate, monitor, and treat these neoplasms with tumor-specific and precision therapies. This chapter comprehensively reviews the biological and technical issues pertaining to the genetic evaluation of hematologic neoplasms, highlighting the genetic aberrations that underlie individual specific lymphoid and myeloid disorders and how they may be evaluated in contemporary hematopathology practice.