title: Genetic Testing in Acute Myeloid Leukemia and Myelodysplastic Syndromes.
abstract: Cytogenetic analysis of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) is essential for disease diagnosis, classification, prognostic stratification, and treatment guidance. Molecular genetic analysis of CEBPA, NPM1, and FLT3 is already standard of care in patients with AML, and mutations in several additional genes are assuming increasing importance. Mutational analysis of certain genes, such as SF3B1, is also becoming an important tool to distinguish subsets of MDS that have different biologic behaviors. It is still uncertain how to optimally combine karyotype with mutation data in diagnosis and risk-stratification of AML and MDS, particularly in cases with multiple mutations and/or several mutationally distinct subclones.
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.
authors.forename: Valentina
authors.initials: V
authors.lastname: Nardi
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA. Electronic address: rhasserjian@partners.org.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Hasserjian
mesh_terms: D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis / Q000379:methods; D019175:DNA Methylation; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000090243:Nucleophosmin; D011379:Prognosis; D018570:Risk Assessment / Q000379:methods
keywords: Acute myeloid leukemia; Cytogenetics; Molecular genetic analysis; Mutations; Myelodysplastic syndrome; Translocations