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Do Not Judge a Book by Its Cover! When a B-All Pretended to Be a CLL
Quentin Amiot1, Anne-Margaux Legland Ép Dejean1, Sarah Bugier1
1Departement of Biological Hematology, Hôpital D'instruction Des Armées Percy, Clamart, France.
Summary
This case highlights a rare B-cell acute lymphoblastic leukemia variant that initially mimicked chronic lymphocytic leukemia. Early chemoresistance necessitated a stem cell transplant, underscoring diagnostic challenges in lymphoid malignancies.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Morphological variants in lymphoid leukemias can complicate accurate diagnosis.
- Distinguishing between chronic lymphocytic leukemia (CLL) and acute lymphoblastic leukemia (ALL) is critical for treatment selection.
- B-cell acute lymphoblastic leukemia (B-ALL) can present with atypical features.
Purpose of the Study:
- To report a case of B-cell acute lymphoblastic leukemia with unusual morphologic features.
- To emphasize the importance of advanced diagnostic techniques in differentiating lymphoid malignancies.
- To highlight the diagnostic challenges posed by atypical presentations of B-ALL.
Main Methods:
- Peripheral blood smear analysis and bone marrow aspiration.
- Flow cytometry for immunophenotypic characterization.
- Molecular testing for genetic mutations, including ZEB2 gene analysis.
Main Results:
- Initial findings suggested chronic lymphocytic leukemia, but flow cytometry confirmed B-cell acute lymphoblastic leukemia.
- A missense mutation (p.H1038R) was identified in exon 10 of the ZEB2 gene.
- The patient exhibited chemoresistance to standard treatment (GRAALL 2024 plus rituximab), requiring an allogeneic stem cell transplant.
Conclusions:
- Atypical morphologic presentations of B-ALL can mimic other lymphoid neoplasms, necessitating comprehensive diagnostic workup.
- ZEB2 mutations may be associated with aggressive B-ALL and chemoresistance.
- Accurate and timely diagnosis is crucial for guiding appropriate therapeutic strategies in acute lymphoblastic leukemia.
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