title: Diagnostic work-up of acute myeloid leukemia.
abstract: Acute myeloid leukemia (AML) is characterized by a clonal expansion of undifferentiated myeloid precursors resulting in impaired hematopoiesis and bone marrow failure. In 2016, the World Health Organization (WHO) published revisions to the classification of myeloid neoplasms and acute leukemias. Similar to the 2008 classification, the updated classification incorporates clinical features, morphology, immunophenotyping, and cytogenetics, with greater emphasis on molecular genetics, to define disease entities. This brief review addresses the various components of pathologic assessment to establish a diagnosis of AML and to help risk stratify patients, with an emphasis on newer techniques used in the detection of mutations with prognostic significance, as well as assays employed in the evaluation of minimal residual disease following treatment.
authors.affiliation: Department of Pathology, Boston Children's Hospital, Boston, Massachusetts.|Department of Pathology, Harvard Medical School, Boston, Massachusetts.
authors.forename: Olga K
authors.initials: OK
authors.lastname: Weinberg
authors.affiliation: Department of Pathology, Harvard Medical School, Boston, Massachusetts.|Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Aliyah R
authors.identifier: http://orcid.org/0000-0002-6307-4854
authors.initials: AR
authors.lastname: Sohani
authors.affiliation: Department of Pathology, Harvard Medical School, Boston, Massachusetts.|Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
authors.forename: Parul
authors.initials: P
authors.lastname: Bhargava
authors.affiliation: Department of Pathology, Harvard Medical School, Boston, Massachusetts.|Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Valentina
authors.initials: V
authors.lastname: Nardi
mesh_terms: D002965:Classification; D003582:Cytogenetics; D006801:Humans; D016130:Immunophenotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis*; D008967:Molecular Biology; D018365:Neoplasm, Residual / Q000175:diagnosis; D018570:Risk Assessment; D014944:World Health Organization