Here we present a 6-year-old girl who presented with acute myeloid leukemia/myelodysplastic changes and who carries a new germline variant mutation in the SAMD9L gene.<h4>Case presentation</h4>A 6-year-old girl who presented initially as a case of immune thrombocytopenic purpura (ITP) was later diagnosed with acute myeloid leukemia and myelodysplastic changes. This evidence concerns the gene SAMD9L and acute myeloid leukemia.