Figure 1.

Clinical features, phenotypic aspects of blast cells and natural history of AMKL. (A) Phenotypic characteristics of CdLS in the patient: low anterior hairline, arched eyebrows, synophrys, long philtrum, thin lips, “carp mouth” and ectrodactyly of the left hand. (B) Cytomorphologic and immunophenotypic examination of bone marrow collected at the time of AMKL. The photomicrograph shows a picture compatible with AMKL including both undifferentiated myeloid blasts and megakaryoblasts. Immunophenotyping shows expression of both megakaryocyte and erythroid markers. (C) Proposed model of clonal evolution in this patient. Each circle represents a clone. Dashed lines indicate clones whose presence were not directly assessed but was deduced from experimental data.