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ABSTRACT
Introduction: The determination of an underlying genetic predisposition is not automatically part of the diagnosis of hematological malignancies (HM) in routine practice. However, it is assumed that genetic predispositions to HM are currently underestimated due to great variations in disease phenotype, variable latency and incomplete penetrance. Most of patients do not display any biological or clinical signs besides the overt hematological disease and many of them have a lack of personal or family history of malignancies.
Areas covered: Collaborative studies and important advances in molecular testing have led to the discovery of several genes recurrently deregulated in familial HM including RUNX1, CEBPA, GATA2, ANKRD26, SRP72, PAX5, DDX41, ETV6, ATG2B/GSKIP and TERT/TERC. This review summarizes biological and clinical findings encountered within these disorders.
Expert commentary: Identify and manage individuals with genetic predisposition is a current challenge for hematologists. Their identification has immediate implications for hematopoietic stem cell transplantation including donor selection and conditioning regimen. Importantly, several features, including familial and personal history as well as molecular and cytogenetic findings, may help clinicians to suspect an underlying genetic predisposition.
Declaration of interest
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.