Mixed-Phenotype Acute Leukaemia: Bridging the Gap Between Myeloid and Lymphoid Lineages

To characterise mixed-phenotype acute leukaemia (MPAL) using flowcytometric immunophenotyping in a flow cytometric local population of Pakistan.

A descriptive, cross-sectional study. Place and Duration of the Study: Department of Immunology, Armed Forces Institute of Pathology, National University of Medical Sciences, Rawalpindi, Pakistan, from November 2021 to October 2023.

A total of 1,115 patients (728 males and 387 females) with peripheral blood, bone marrow, or cerebrospinal fluid samples referred for immunophenotyping due to suspected acute leukaemia were included in the study. Cells were stained with lineage-specific fluorochrome-labelled monoclonal antibodies. Acquisition of cell suspension was done on the BD FACS Canto II multi-parameter (flow cytometer), and analysis was done on the BD FACS Diva software. Qualitative variables (gender, diagnosis, or positivity of CD markers) were expressed as frequency and percentages, and quantitative variables (age) were expressed as mean ± SD. The Chi-square test was used to compare positivity in both male and female patients.

Among 875 patients with acute leukaemia, 11 cases (1.25%) were diagnosed as MPAL, with a mean age 32 ± 28 years. Of the MPAL cases 9 (81.8%) were males, and 2 (18.2%) were females (p = 0.25). The most common MPAL subtype was B-myeloid, found in 7 out of 11 cases (63.6%), followed by T-myeloid in 3 cases (27.3%) and B-T MPAL in 1 case (9.1%). The aberrant expression of a third lineage was present in 2 out of 11 cases, (18.2%), while 9 cases (81.8%) were biphenotypic, and 2 cases (18.2%) were bilineage. A fatal outcome occurred in 3 out of 11 cases (27.3%) and the average diagnostic delay was 5.5 weeks.

In a local Pakistani population, B/Myeloid MPAL is the most prevalent immunophenotype, followed by T/Myeloid MPAL, with an average diagnostic delay of about five weeks. It is more common in males and can occur at any age, from infancy to old age.

Acute leukaemia of ambiguous lineage, Bilineage acute leukaemia, Biphenotypic acute leukaemia, Mixed-phenotype acute leukaemia.