The Role of NPM1 Mutation in Acute Myeloid Leukemia
A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Pathophysiology".
Deadline for manuscript submissions: closed (1 February 2025) | Viewed by 3729
Special Issue Editor
Special Issue Information
Dear Colleagues,
Acute myeloid leukemia (AML) with nucleophosmin (NPM1) mutations is the most common mutation-defined subtype of de novo AML, comprising approximately 30% of all cases and 60% of those associated with a normal karyotype. Given its frequency, and well-recognized unique clinicopathologic and biologic features, the recent 5th edition of the World Health Organization (WHO) and International Consensus Classification (ICC) schema has established NPM1 mutation as AML-defining, albeit at different blast count thresholds.
NPM1 mutational load correlates closely with disease status, especially in the post-therapy setting; therefore, high-sensitivity detection of the mutant allele at low levels (minimal/measurable residual disease, MRD) has become a mainstay for longitudinal disease monitoring. However, open questions remain regarding the optimal methods for MRD measurement, the clinical significance of low-level MRD, and the appropriate approach to the management of these patients. Another exciting aspect of the investigation into NPM1-mutated AML has focused on elucidating the neomorphic function of mutant NPM1 (“NPM1c”). Recent work in this area has revealed NPM1c to have chromatin-binding activities that are critical for inducing the stem-like transcriptional program known to be associated with NPM1 mutation. These and other studies have revealed unique opportunities for selective therapeutic targeting of NPM1-mutated cells in AML patients.
This Special Issue will highlight work that further unravels the molecular mechanisms underlying the pathogenesis of NPM1-mutated AML, addresses lingering questions around patient prognostication and longitudinal monitoring, and sheds light on recently described and other novel therapeutic agents that may have unique efficacy in this disease.
In this Special Issue, original research articles and reviews within the scope of the topics described above are welcome.
I look forward to receiving your contributions.
Dr. Sanjay Patel
Guest Editor
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Keywords
- nucleophosmin
- NPM1
- acute myeloid leukemia
- minimal residual disease
- microenvironment
- molecular targeted therapies
- mechanisms of disease pathogenesis
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