Hereditary leukemias – clinical implications

Jane E. Churpek, MD, from the University of Chicago, Chicago, IL, discussed the clinical implications of hereditary leukemias at the International Symposium on Acute Leukemias (ISAL) 2017 in Munich, Germany. She describes that the treatment of familial leukemias is altered when planning a stem cell transplant, in considering whether this is appropriate, the timing of the transplant and most importantly the donor. She points out that the donor should not be a sibling with the same mutation, due to the high risk of donor-derived leukemia and failure to engraft if the baseline is abnormal. Dr Churpek explains that even when mutations can’t be identified, the transplant procedure can be altered based on family history. She highlights that where mutations are known, the other organs which may be affected by the mutation are taken into consideration, and how this will determine the response to different therapies. Additionally, infectious diseases as well pulmonary or other organ sensitivities to certain treatment regimens can be monitored if the hereditary basis is known, helping the patient to avoid significant morbidity. On the other hand, a family history of leukemia is often brought up by the patient, who can then be monitored with blood counts. While these patients with a family history of leukemia could also be monitored by sequencing, Dr Churpek emphasizes that for many mutations, we do not know what these mean, and explains that this can be done on a research basis to aid in the development of biomarkers to predict when someone will develop myelodysplatic syndrome (MDS) or leukemia, so that unnecessary interventions in those who will never go on to develop leukemia can be avoided.

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