The presence or absence of cytogenetic and molecular abnormalities present at the time of diagnosis of acute myeloid leukemia (AML) not only provides important prognostic information, but also directs decisions regarding postremission therapy. In no other group has molecular analysis been more important than for the 40% to 50% of newly diagnosed patients in whom clonal chromosomal aberrations are not detected. Patients with cytogenetically normal (CN) AML were once considered a homogenous group, but are now classified into molecularly defined subgroups with distinct clinical outcomes. Evaluating FLT3, NPM1, and CEBPA mutational status is a routine component of the diagnostic evaluation for all patients with CN-AML and is used to determine outcome risk. However, in patients with FLT3 wild-type/NPM1 wild-type/CEBPA wild-type CN-AML, the optimal postremission therapy has not been well defined. This article reviews treatment outcomes for this group of patients after chemotherapy and autologous and allogeneic stem cell transplantation. New recurrent somatic mutations and their prognostic significance in patients with FLT3 wild-type/NPM1 wild-type CN-AML are also addressed.
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Alison R. Walker and Guido Marcucci
Peter L. Greenberg, Richard M. Stone, Aref Al-Kali, Stefan K. Barta, Rafael Bejar, John M. Bennett, Hetty Carraway, Carlos M. De Castro, H. Joachim Deeg, Amy E. DeZern, Amir T. Fathi, Olga Frankfurt, Karin Gaensler, Guillermo Garcia-Manero, Elizabeth A. Griffiths, David Head, Ruth Horsfall, Robert A. Johnson, Mark Juckett, Virginia M. Klimek, Rami Komrokji, Lisa A. Kujawski, Lori J. Maness, Margaret R. O'Donnell, Daniel A. Pollyea, Paul J. Shami, Brady L. Stein, Alison R. Walker, Peter Westervelt, Amer Zeidan, Dorothy A. Shead, and Courtney Smith
The myelodysplastic syndromes (MDS) comprise a heterogenous group of myeloid disorders with a highly variable disease course. Diagnostic criteria to better stratify patients with MDS continue to evolve, based on morphology, cytogenetics, and the presence of cytopenias. More accurate classification of patients will allow for better treatment guidance. Treatment encompasses supportive care, treatment of anemia, low-intensity therapy, and high-intensity therapy. This portion of the guidelines focuses on diagnostic classification, molecular abnormalities, therapeutic options, and recommended treatment approaches.