Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic
Inés Martínez-Alfonzo1, Daniel Láinez-González2, Laura Solán-Blanco1
1Department of Hematology, Hospital Universitario Fundación Jiménez Díaz, 28040 Madrid, Spain.
Medicina (Kaunas, Lithuania)
|February 25, 2022
Summary
Acute myeloid leukemia (AML) rarely presents with ascites, especially with NPM1 mutations. Molecular techniques like allele-specific PCR and multiparameter flow cytometry (MFC) are crucial for diagnosing such rare cases.
Area of Science:
- Hematology
- Oncology
- Molecular Diagnostics
Background:
- Extramedullary involvement in acute myeloid leukemia (AML) is uncommon.
- Ascitic infiltration is a particularly rare manifestation of AML.
Observation:
- A 48-year-old woman with NPM1-mutated AML presented with ascites.
- Initial morphological analysis of ascitic fluid was negative for leukemic cells.
- Multiparameter flow cytometry (MFC) and allele-specific PCR identified leukemic infiltration.
Findings:
- This is the first reported case of NPM1-mutated AML presenting with ascites.
- Molecular techniques successfully detected leukemic cells missed by morphology.
- NPM1-mutated transcripts were confirmed in the ascitic fluid.
Implications:
- Highlights the utility of MFC and allele-specific PCR in diagnosing rare AML effusions.
- Suggests routine application of sensitive molecular techniques for ascitic fluid analysis in AML patients.
- Emphasizes the importance of advanced diagnostics when morphology is inconclusive in AML.
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