How can the study of familial leukemias help us to understand sporadic leukemias?

Jane E. Churpek, MD, from the University of Chicago, Chicago, IL, explains why we should think about hereditary causes of leukemia in the average adult acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patient at the International Symposium on Acute Leukemias (ISAL) 2017 in Munich, Germany. The discovery of new genetically-based syndromes predisposing to adult onset MDS and AML has led to an increased understanding of the different pathways involved in leukemogenesis, which were not identified through bulk sequencing techniques. Dr Churpek highlights that this is an opportunity to study the multistep process of leukemogenesis. Because we know what the underlying predisposition allele is, by monitoring and sampling these patients over time, we can identify the steps from a single germline mutation to the onset of overt disease in the mutation carriers who develop leukemia. Dr Churpek concludes that this gives us a chance to study familial disease, while at the same time understanding sporadic disease for everyone else.

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