Jornal de Pesquisa Óssea
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Acute Leukemia Trilineage Blasts Assignment and Epigenetic Mutations

Amal M, Ines S, Mbarka B, Chaker F and Salem A

Mixed Phenotype Acute Leukaemia (MPAL) is a heterogeneous group of rare leukemias in which assigning a single lineage of origin is not possible.

We report a rare case of a MPAL without any clear cytological characterisation. Immuno-phenotyping identifies a blastic population co-expressing myeloid, B-lymphoid and T-lymphoid markers. The diagnosis of MPAL is considered and the patient receives chemotherapy targeting both myeloid and lymphoid components, followed by allogeneic hematopoietic stem cell transplantation. DNA-based techniques analyzing B and T-cell clonality identified the presence of partial rearrangements in immunoglobulin and TCR genes. Mutations in DNMT3A, IDH1/2, Flt3, NPM1 and ASXL1 genes were analysed.

We did not observe any mutations in IDH2, Flt3 and ASXL1 genes. A several mutations were in DNMT3A, IDH1 and NPM1 genes, allowing the monitoring of minimal residual disease.