NPM1 Measurable Residual Disease: A Narrative Review

Area of Science:

• Hematology
• Oncology
• Molecular Diagnostics

Background:

• Mutated NPM1 defines a distinct AML subtype and a favorable risk group.
• Measurable Residual Disease (MRD) detection in NPM1-mutated AML improves patient outcomes.
• Current NPM1 MRD detection techniques have limitations, necessitating a combined approach.

Purpose of the Study:

• To review and detail the various testing modalities for NPM1 MRD in AML.
• To emphasize the importance of an integrated approach for NPM1 MRD detection.
• To raise awareness regarding the need for standardized NPM1 MRD monitoring.

Main Methods:

• Narrative review of literature.
• Literature search using keywords 'NPM1', 'MRD', 'NGS' in PubMed, Embase, and Scopus.
• Inclusion of 40 articles without formal inclusion/exclusion criteria or statistical analysis.

Main Results:

• Multiple techniques exist for NPM1 MRD detection, each with unique advantages and disadvantages.
• An integrated approach is recommended to mitigate potential false negatives in NPM1 MRD assessment.
• Genomic MRD monitoring, particularly for NPM1, aids in guiding AML therapy, including transplant timing.

Conclusions:

• Accurate NPM1 MRD monitoring is essential for optimizing treatment strategies in AML.
• A synoptic and integrated approach to NPM1 MRD testing is advised.
• Future directions may involve AI and machine learning for improved risk stratification in NPM1-mutated AML.