Flow cytometry in detection of Nucleophosmin 1 mutation in acute myeloid leukemia patients: A reproducible tertiary hospital experience.

Autor: El-Gamal RAE; Department of Clinical Pathology, Hematology Unit, Ain Shams University, Cairo, Egypt., Hashem AE; Department of Clinical Pathology, Hematology Unit, Ain Shams University, Cairo, Egypt., Habashy DM; Department of Clinical Pathology, Hematology Unit, Ain Shams University, Cairo, Egypt., Abou Elwafa MAZ; Department of Clinical Pathology, Hematology Unit, Ain Shams University, Cairo, Egypt., Boshnak NH; Department of Clinical Pathology, Hematology Unit, Ain Shams University, Cairo, Egypt.
Jazyk: angličtina
Zdroj: International journal of laboratory hematology [Int J Lab Hematol] 2021 Feb; Vol. 43 (1), pp. 68-75. Date of Electronic Publication: 2020 Aug 27.
DOI: 10.1111/ijlh.13317
Abstrakt: Introduction: Nucleophosmin 1 (NPM1) mutation is one of the most frequent gene mutations in adult acute myeloid leukemia (AML), being detected in 35% of all cases and in up to 60% of patients with normal karyotype AML. AML with mutated NPM1 has distinct pathology, immunophenotyping, and confirmed favorable prognostic significance. Hence, AML with mutated NPM1 is a separate entity in the revised 2016 World Health Organization classification. This study aimed to evaluate the use of a reproducible flow cytometry approach in the assay of mutant NPM1 protein in AML patients and to correlate flow cytometric results with the NPM1 gene mutation.
Methods: Eighty-nine newly diagnosed AML patients were evaluated for the expression of mutant NPM1 using flow cytometry and for the presence of NPM1 exon 12 mutations using high-resolution melting polymerase chain reaction (HRM PCR).
Results: The NPM1 mutation was found in 35 (39.3%) patients by HRM PCR. These patients showed a significantly higher level of percentage of positive-stained cells (% positive cells) and normalized median fluorescence intensity (MFI) for mutant NPM1 by flow cytometry than the negative mutation group.
Conclusion: Flow cytometric detection of mutant NPM1 offers a possible tool to indicate NPM1 mutational status.
(© 2020 John Wiley & Sons Ltd.)
Databáze: MEDLINE
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