Children with Down syndrome are at a high risk of developing transient abnormal myelopoiesis (TAM, or TMD) or myeloid leukemia (ML-DS). While most patients with TAM are asymptomatic and go into spontaneous remission without needing therapy, TAM-related complications can be fatal and many patients progress from TAM to ML-DS. ML-DS patients are particularly vulnerable to therapy-associated toxicity, but the prognosis of relapsed ML-DS is extremely poor – thus, ML-DS therapy schemata must strive for a balance between appropriate efficacy (to avoid relapses) and treatment-related toxicity.
We recently compiled diagnostic and therapeutic guidelines for TAM and ML-DS based on the experience and results of previous clinical studies from the Berlin-Frankfurt-Münster (BFM) working group. These protocols have helped reduce the risk of early death in symptomatic TAM patients using low-dose cytarabine, and achieved excellent cure rates for ML-DS using intensity-reduced treatment protocols.