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Cytogenetics in acute myeloid leukemia

Yanming Zhang, MD
Michelle M Le Beau, PhD
Section Editor
Richard A Larson, MD
Deputy Editor
Alan G Rosmarin, MD


Cytogenetic analysis of metaphase cells is a key component to the evaluation of all patients with newly diagnosed or suspected acute myeloid leukemia (AML). The malignant cells in most patients with AML have non-random, acquired clonal chromosomal abnormalities. In some cases, specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morphologically and clinically distinct subsets of the disease. As such, the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues uses genetic findings in addition to morphologic, immunophenotypic, and clinical features to define distinct subtypes of AML. In addition to establishing the type of AML, specific cytogenetic abnormalities have diagnostic, prognostic, and therapeutic importance. (See "Remission criteria in acute myeloid leukemia and monitoring for residual disease" and "Clinical manifestations, pathologic features, and diagnosis of acute promyelocytic leukemia in adults", section on 'Molecular genetics' and "Pretreatment evaluation and prognosis of acute myeloid leukemia in older adults", section on 'Prognostic factors'.)

This topic will review selected cytogenetic abnormalities in both de novo and therapy-related acute myeloid leukemia (t-AML). An overview of cytogenetics in hematologic malignancies, including definitions, methods of detection, the genetic consequences of chromosomal translocation, and the relationship between these chromosomal abnormalities and the pathobiology of AML are discussed separately. A risk stratification of AML based upon molecular genetics is also presented separately. (See "General aspects of cytogenetic analysis in hematologic malignancies" and "Genetic abnormalities in hematologic and lymphoid malignancies" and "Molecular genetics of acute myeloid leukemia" and "Prognosis of acute myeloid leukemia", section on 'Karyotype'.)


The following terminology will be used in this review [1-3]:

Chromosomal translocation (t) is the process by which a break in at least two different chromosomes occurs, with exchange of genetic material. Reciprocal translocation refers to an exchange between two or more chromosomes in which there is no obvious overall loss of chromosomal material. An example of a reciprocal translocation is the Philadelphia chromosome, t(9;22)(q34.1;q11.2), seen in chronic myeloid leukemia.

Chromosomal deletion (del) means loss of chromosomal material. An interstitial deletion results from two breaks in a single chromosome with the loss of intervening material. An example of an interstitial deletion is the 5q- syndrome, or myelodysplastic syndrome with an isolated del(5q), in which a variable portion (often the segment between bands q14 and q33) of the long arm of chromosome 5 is lost.


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