CBFA2T3::GLIS2‐positive acute leukemia with RAM and mixed T/megakaryocytic phenotype

CBFA2T3::GLIS2‐positive acute leukemia with RAM and mixed T/megakaryocytic phenotype

Herein, we present a rare case of acute myeloid leukemia (AML) with CBFA2T3‐rearrangement and the expression of megakaryocytic and lymphoid markers, highlighting the need for a high suspicion index in differential diagnosis and applying adequate workup to avoid misdiagnosing this entity. CBFA2T3::GL...

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Bibliographic Details
Published in:EJHaem Vol. 4; no. 3; pp. 765 - 769
Main Authors: Khanlari, Mahsa, Wang, Lu, Bolen, Christine Y, Otanez, Felipe Sebastian Bautista, Furtado, Larissa V., Key, Laura, Irwin, Lisa, Wang, Wei, Klco, Jeffery M.
Format: Journal Article
Language:English
Published: United States John Wiley & Sons, Inc 01-08-2023
John Wiley and Sons Inc
Wiley
Subjects:
Acute lymphoblastic leukemia
acute megakaryoblast leukemia
Acute myeloid leukemia
Biopsy
Bone marrow
CBFA2T3
CD38 antigen
CD45 antigen
CD56 antigen
Differential diagnosis
Down's syndrome
Flow cytometry
Genotype & phenotype
GLIS2
Leukemia
Lymphatic leukemia
Lymphatic system
Lymphocytes T
Lymphoma
mixed phenotype acute leukemia
Morphology
Myelodysplastic syndrome
Phenotypes
Short Report
Short Reports
mixed phenotype acute leukemia
CBFA2T3
GLIS2
acute megakaryoblast leukemia
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Summary:Herein, we present a rare case of acute myeloid leukemia (AML) with CBFA2T3‐rearrangement and the expression of megakaryocytic and lymphoid markers, highlighting the need for a high suspicion index in differential diagnosis and applying adequate workup to avoid misdiagnosing this entity. CBFA2T3::GLIS2‐positive AML is primarily found in infants with non‐down syndrome acute megakaryoblastic leukemia (non‐DSAMKL). Flow cytometry immunophenotyping plays an important role in recognizing the unique immunophenotype of bright CD56 expression with dim/negative expression of HLA‐DR, CD38, and CD45 termed the RAM immunophenotype in this entity. Still, CBFA2T3::GLIS2‐positive acute leukemia with T/megakaryocytic markers could be misdiagnosed as T‐lymphoblastic leukemia/lymphoma, early T‐cell precursor acute lymphoblastic leukemia/lymphoma, NK lymphoblastic leukemia, AML with minimal differentiation, or AML with myelodysplasia‐related changes.
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ISSN:2688-6146
2688-6146
DOI:10.1002/jha2.741