The Prevalence and Prognostic Impacts of Nucleophosmin Mutations in Adult Patients with De Novo Acute Myeloid Leukemia

Naglaa  Mostafa Hassan; Noha El-Sayed; Khaled  Aboul-Enein; Lamyaa  Nabeeh Al-Fadally; Reem  Nabil

doi:10.3889/oamjms.2021.6172

Authors

Naglaa Mostafa Hassan Department of Clinical Pathology, National Cancer Institute, Cairo University, Giza, Egypt
Noha El-Sayed Department of Microbial Biotechnology, Genetic Engineering and Biotechnology Division, National Research Centre, Dokki, Giza, Egypt https://orcid.org/0000-0002-7176-4687
Khaled Aboul-Enein Department of Clinical Pathology, National Cancer Institute, Cairo University, Giza, Egypt https://orcid.org/0000-0002-6531-7370
Lamyaa Nabeeh Al-Fadally Department of Clinical Pathology, National Cancer Institute, Cairo University, Giza, Egypt
Reem Nabil Department of Clinical Pathology, National Cancer Institute, Cairo University, Giza, Egypt https://orcid.org/0000-0001-8542-9495

DOI:

https://doi.org/10.3889/oamjms.2021.6172

Keywords:

Acute myeloid leukemia, Nucleophosmin, Mutation, Real-time polymerase chain reaction

Abstract

BACKGROUND: Acute myeloid leukemia (AML) is known as cancer of the blood and bone marrow (BM) and is regarded as the commonest acute leukemia in adult patients.

AIM: In this study, the aim to investigate the nucleophosmin mutations and their prognostic impacts in patients that were recently diagnosed with AML.

METHODS: We have included patients who were newly diagnosed with AML and presented to the medical oncology clinics, National Cancer Institute, Cairo University, during the period from August 2016 to December 2018. To assess the laboratory and hematological outcomes of our patients, total RNA was extracted from BM and converted to cDNA then the expression of nucleophosmin 1 (NPM1) type A mutation was done by real-time quantitative polymerase chain reaction (PCR). Comparative analysis was also conducted to study outcomes between the gene mutation groups.

RESULTS: We have included 89 AML patients in our study with a median age of 43 years (18–77). NPM1 gene mutation was detected in 37.1% of our patients by conventional PCR technique and agarose gel electrophoresis, of which 18% were NPM1 type A mutation. No significant differences were noticed between our patients based on their NPM1 gene mutation status (wild and mutant) in terms of sex, hepatomegaly, splenomegaly, and complete remission (CR). Lymphadenopathy was the only significant factor (p = 0.023). Surprisingly we found 9/33 patients had NPM1 mutation with recurrent cytogenetic abnormality. We found no statistical significance between mutation A and mutation non-A groups in any of the studied outcomes as sex, clinical and laboratory data, and CR.

CONCLUSION: NPM1 gene mutation A was relatively low among our population but did not significantly affect the outcomes.

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