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Cytogenetics and molecular genetics in acute lymphoblastic leukemia

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


The most useful prognostic indicators in acute lymphoblastic leukemia (ALL) are age, white blood cell count, immunophenotype, minimal residual disease detection, and karyotype. A number of recurring cytogenetic abnormalities are associated with distinct immunologic phenotypes of ALL and characteristic outcomes [1-5]. These abnormalities will be reviewed here. An overview of cytogenetic analysis in hematologic malignancies, including definitions, methods of detection, and the genetic consequences of chromosomal translocations, is presented separately, as is the use of minimal residual disease assessment in patients with ALL. (See "General aspects of cytogenetic analysis in hematologic malignancies" and "Detection of minimal residual disease in acute lymphoblastic leukemia" and "Clinical use of minimal residual disease detection in acute lymphoblastic leukemia".)


Cytogenetic abnormalities — Cytogenetic analysis and molecular cytogenetic studies, such as fluorescence in situ hybridization (FISH), reveal recurring chromosome abnormalities in approximately 80 percent of ALL, including numerical and structural changes, such as translocations, inversions, or deletions [1,2,6-8]. These cytogenetic abnormalities are incorporated in the World Health Organization (WHO) classification of acute leukemia (table 1) [5].

There are substantial differences between children and adults with ALL in the frequencies of some recurring abnormalities, including the following:

The t(9;22) is observed in about 2 to 5 percent of children [9-11] compared with about 30 percent of adults [6,8,12].

The t(12;21), which is detectable only by FISH or polymerase chain reaction (PCR) analysis, is observed in about 25 percent of children with B-lineage leukemia [7,13], compared with about 3 percent of adults.


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Literature review current through: May 2017. | This topic last updated: Jun 21, 2017.
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