Background: In the past three decades, there has been significant improvements in the diagnosis and management of acute myeloid leukaemia. Cytogenetic and molecular genetic modalities have now enabled physicians to identify and plan appropriate management protocols for patients according to genetic profile.
Case presentation: Here we present case of a 2-year-old boy who initially presented with features that were clinically and haematologically suggestive of juvenile myelomonocytic leukaemia (JMML), but cytogenetic analysis revealed presence of inv(16)/t(16;16) (p13q22) (CBFB/MYH11), which is the recurrent cytogenetic abnormality associated with AML.
Conclusion: To our knowledge this was the first case of acute myeloid leukaemia with inv(16)/t(16;16) (p13q22) diagnosed in a two year old baby. In our patient, cytogenetic analysis helped with correct diagnosis. Cytogenetic and molecular genetic studies now play an important role in diagnosis, as well as management of clonal disorders, including acute leukaemias.
AML, inv(16), 2-Year-Old, Diagnostic, Dilemma