The Emerging Role of Hematopathologists and Molecular Pathologists in Detection, Monitoring, and Management of Myeloid Neoplasms with Germline Predisposition

Purpose of Review: Awareness, widespread availability, and routine use of sequencing techniques in work-up of myelodysplastic syndromes and acute myeloid leukemia have facilitated increased recognition of these entities arising in a background of germline predisposition disorders (GPD). Recent Findings: The latest revisions to the WHO classification of myeloid neoplasms incorporate “myeloid neoplasms with germline predisposition” as a separate entity due to the therapeutic implications of this diagnosis. It has become apparent that some of these entities have unique recognizable morphologic findings that can be challenging to interpret at time. Hence, much needs to be studied, posing a new layer of complexity to hematopathologists and oncologists. A thorough understanding of cytogenetic and molecular findings during disease evolution is essential. Summary: Consequently, hematopathologists and molecular pathologists play an increasing role in recognition of bone marrow morphologic features that help in recognition of underlying GPD, monitoring, and prompt identification of progression.