Special Issue "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: 1 May 2024 | Viewed by 386

Special Issue Editor

Weill Cornell Medicine, New York, NY 10021, USA
Interests: hematopoiesis; stem cell niche; acute myeloid leukemia; nucleophosmin; spatial biology; myelodysplastic syndromes; tumor microenvironment

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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • nucleophosmin
  • NPM1
  • acute myeloid leukemia
  • minimal residual disease
  • microenvironment
  • molecular targeted therapies
  • mechanisms of disease pathogenesis

Published Papers

This special issue is now open for submission.
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