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Flow Cytometry to Estimate Leukemia Stem Cells in Primary Acute Myeloid Leukemia and in Patient-derived-xenografts, at Diagnosis and Follow Up
Published on: March 26, 2018
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CBFA2T3::GLIS2-positive acute leukemia with RAM and mixed T/megakaryocytic phenotype
Mahsa Khanlari1, Lu Wang1, Christine Y Bolen2
1Department of Pathology St. Jude Children's Research Hospital Memphis Tennessee USA.
Ejhaem
|August 21, 2023
Summary
This study details a rare acute myeloid leukemia (AML) case with a CBFA2T3 rearrangement, emphasizing correct diagnosis. Early identification of this specific AML subtype is crucial to prevent misdiagnosis and ensure appropriate treatment.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Acute myeloid leukemia (AML) encompasses diverse subtypes with varying prognoses.
- CBFA2T3 rearrangements are uncommon genetic alterations in AML, particularly in infants.
Purpose of the Study:
- To report a rare case of AML with CBFA2T3 rearrangement and mixed megakaryocytic/lymphoid markers.
- To highlight diagnostic challenges and the importance of specific immunophenotypic findings.
Main Methods:
- Case report presentation.
- Flow cytometry immunophenotyping to identify unique cellular markers.
- Genetic analysis for CBFA2T3 rearrangement.
Main Results:
- The case exhibited a unique immunophenotype (RAM phenotype): bright CD56 expression with dim/negative HLA-DR, CD38, and CD45.
- The CBFA2T3::GLIS2 fusion gene was identified, characteristic of infant AML.
Conclusions:
- CBFA2T3::GLIS2-positive AML requires a high index of suspicion for accurate diagnosis.
- Misdiagnosis as other lymphoid or myeloid leukemias is possible without thorough workup.
