Biphenotypic acute leukaemia (BAL) is an uncommon disease. As strict diagnostic criteria have only recently been established, the precise incidence among acute leukaemias is uncertain, although it is likely to account for approximately 5% of all acute leukaemias. BAL can be de novo or secondary to previous cytotoxic therapy. It has been included in the WHO classification of haemopoietic malignancies as acute leukaemia of ambiguous lineage. As with other types of acute leukaemia, BAL presents with the symptoms resulting from cytopenias. The blast count at diagnosis does not tend to differ from that in acute myeloid leukaemia (AML) or acute lymphoid leukaemia (ALL). BAL can present at any age, including children, although it is more common in adults.
The immunophenotype is essential to establish the diagnosis of BAL; the blasts co-express myeloid and lymphoid markers. Diagnosis is based on a published scoring system adopted by the European Group of Immunological Classification of Leukemias (EGIL) and the WHO. This system aims to differentiate true BAL from acute leukemias with aberrant expression of a marker from another lineage. The score encompasses the number and degree of specificity of the markers expressed by the leukaemic cells.