Assessment of Minimal Residual Disease in Standard-Risk AML

• Published in: The New England journal of medicine Vol. 374; no. 5; pp. 422 - 433
• Main Authors: Ivey, Adam, Hills, Robert K, Simpson, Michael A, Jovanovic, Jelena V, Gilkes, Amanda, Grech, Angela, Patel, Yashma, Bhudia, Neesa, Farah, Hassan, Mason, Joanne, Wall, Kerry, Akiki, Susanna, Griffiths, Michael, Solomon, Ellen, McCaughan, Frank, Linch, David C, Gale, Rosemary E, Vyas, Paresh, Freeman, Sylvie D, Russell, Nigel, Burnett, Alan K, Grimwade, David
• Format: Journal Article
• Language: English
• Published: United States Massachusetts Medical Society 04.02.2016
• Subjects: Acute myeloid leukemia; Base Sequence; Chemotherapy; Clinical trials; DNA, Neoplasm - analysis; Exome; Gene Expression Profiling; Genes; Genetic markers; Health risk assessment; Humans; Leukemia; Leukemia, Myeloid, Acute - genetics; Medical prognosis; Minimal residual disease; Molecular Sequence Data; Multivariate analysis; Mutation; Myeloid leukemia; Neoplasm, Residual - genetics; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Nucleophosmin; Patients; Polymerase chain reaction; Prognosis; Quantitation; Recurrence; Remission; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Transcriptome
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa1507471

Investigators seeking to identify genetic prognostic markers in a clinical trial to treat acute myeloid leukemia found that minimal residual disease, detected by the presence of mutation in NPM1, provided prognostic information independent of other risk factors. Although acute myeloid leukemia (AML) is genetically less complex than many other tumors, the condition is molecularly heterogeneous. 1 – 3 Despite improved understanding of the mutational landscape, treatment decisions, particularly regarding allogeneic stem-cell transplantation, remain guided by cytogenetic analysis, a limited panel of molecular genetic markers, and morphology-based assessment of remission. 4 – 6 Currently, a predicted risk of relapse of more than 35% is widely considered to warrant stem-cell transplantation during the first remission. 5 Patients with high-risk disease undergo stem-cell transplantation if feasible, whereas those with low-risk disease usually do not. However, there is uncertainty about the role of transplantation in patients . . .