A Child with Philadelphia Positive (Ph+)-Acute Leukemia with Myeloid Morphology: One Case of Stem Cell Origin

Philadelphia positive (Ph+) acute myeloid leukemia (AML) is a rare and heterogeneous condition, mainly reported in adults, associated to poor prognosis and unfavorable response to therapy. Here we report clinical and laboratory findings in an 8-year-old patient diagnosed with Ph+ acute leukemia with myeloid (FAB M4) morphology. The patient consistently expressed variable levels of m-bcr, e1a2 transcripts during a 42-month follow-up after two different stem cell transplantation protocols. An immunophenotypic switch was documented, from a mixed, myeloid-lymphoid lineage to a full lymphoid phenotype following stem cell transplants, in association with an immature B-cell gene rearrangement profile and clonal instability during clinical progression. This report indicates a stem cell origin as previously suggested for Ph+ AML.