AJHE2208 - CME/CMLE - How I diagnose Acute Leukemia of Ambiguous Lineage-How I diagnose Acute Leukemia of Ambiguous Lineage

How I diagnose Acute Leukemia of Ambiguous Lineage

Pdf Summary

The document discusses the classification, genetics, and diagnostic challenges of mixed-phenotype acute leukemia (MPAL), focusing on cases with ambiguous lineage. MPAL demonstrates characteristics of both acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), with genomic data revealing mutations common in both types. Optimal therapy for MPAL varies between adults and children, but data suggest most patients benefit from ALL therapy regardless of age. Diagnostic criteria emphasize lineage assignment using immunophenotyping, with challenges in differentiating MPAL from genetically defined AML and ALL. Cytogenetic analysis plays a crucial role in accurate diagnosis, especially in distinguishing MPAL from AML with MDS-related changes. The document also discusses the role of myeloperoxidase (MPO) in defining lineage, the importance of cytogenetic analysis, and addressing cases with small aberrant clones. Prognostic factors impacting MPAL outcomes are highlighted, and various chemotherapy approaches are explored. The importance of accurate diagnosis and appropriate classification within existing AML or ALL categories is emphasized to ensure optimal treatment strategies based on individual patient characteristics and genetic profiles. The document also references various studies and cases to support the discussion surrounding MPAL classification and diagnostic challenges.

Keywords

mixed-phenotype acute leukemia

MPAL

acute myeloid leukemia

AML

acute lymphoblastic leukemia

ALL

genomic data

diagnostic challenges

immunophenotyping

cytogenetic analysis