Cytogenetic Analysis

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The page below is a sample from the LabCE course Acute Leukemia with a Focus on WHO Classification. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Cytogenetic Analysis

Two-thirds of patients with AML have leukemic blasts containing chromosomal abnormalities. These abnormalities differ among the various subtypes, as indicated in the WHO classification on previous pages. Cytogenetic analysis helps to inform important clinical, prognostic, and treatment decisions. Also, the diagnosed patient can then be monitored for remission and relapse using chromosomal and molecular analysis.
The analysis of chromosome morphology is known as karyotyping. Karyotyping is performed by growing the patient's white blood cells in special media to induce cell division and replication. Cells are then treated to stop cell division at the metaphase stage of replication. The cells are then lysed to release the chromosomes and then stained to show the banding. A picture of the stained chromosomes is taken. The chromosomes are counted, sorted by chromosome number and paired, and then analyzed for their structure and banding. Table 7 lists some of the stains used to visualize the chromosomes.
Table 7. Stains Used for Visualizing Chromosomes.
Stain Name What the Stain Yields
Giemsa g banding
Acridine Orange r banding
Treated Giemsa c banding
Quinacrine r banding
Newer methods include spectral karyotyping such as multiplex fluorescence in situ hybridization (M-FISH), which is particularly useful in more complex rearrangements. Various automated methods can also be used for performing the karyotypes and visualizing the chromosomes.
The top image shows a normal karyotype (karyogram) of a male.
The lower right image shows a karyotype (karyogram) of a male with AML with a translocation of chromosomes 6 and 9 (short arrows) with a further chromosomal change of an additional chromosome 8 (long arrow).
8. National Human Genome Research Institute. "Karyotype of a human male." Wikimedia Commons, 1 Mar 2012, https://commons.wikimedia.org/w/index.php?curid=583512
9. Song, Yeohan et al. “The Challenge of t (6;9) and FLT3-Positive Acute Myelogenous Leukemia in a Young Adult.” Journal of leukemia(Los Angeles, Calif.) vol. 2 (2014): 1000167. doi:10.4172/2329-6917.1000167

A normal male karyotype (8).
A karyotype of a male with t(6;9)AML (9).