An Overview of the Genetics and Treatment of Down Syndrome ALL

Down syndrome ALL patients are a high-risk group due to a combination of a substantial risk of relapse, significant rates of infection related mortality and poor salvage of relapse. IKZF1-deleted DS-ALL patients in particular have a high rate of relapse. Treatment-related mortality (TRM) occurs in all phases including maintenance therapy. Several measures have been introduced to reduce the risk of TRM—these include treatment de-escalation in patients with a good response to induction chemotherapy, avoiding anthracyclines and use of prophylactic antibiotics. Novel agents such as blinatumomab and chimeric antigen therapy which may be less toxic than traditional chemotherapy agents are being trialled to see if they lead to improvements in outcome.