Chromosome and gene analysis

  • The study of abnormalities in patients’ chromosomes and genes is only applicable for AML, with genetic abnormalities. However, chromosome analysis does help with the diagnosis of other types of AML to be confirmed in difficult cases.
  • Chromosomal abnormalities are identified in just over 50% of all adult patients with AML These abnormalities are commonly in chromosomes 5, 7 or 11 or combinations of abnormalities in several chromosomes (Medinger and Passweg 2017).
  • Up to 50% of all cases of AML do not have abnormal chromosomes, however they do have mutated genes, (see Table 2).
  • The following tests can be used to show the chromosome abnormalities and gene mutations.
  • Cytogenetic analysis (study of chromosomes): The leukaemia cells are examined in the laboratory while they are dividing to show any chromosome abnormalities or gene mutations.
  • Molecular cytogenetic analysis: Small portions of DNA are labelled in the laboratory with fluorescent dye to detect sequences of DNA. This process is called FISH (fluorescence in situ hybridisation). It can identify specific locations of genes on a chromosome, how many copies of the genes are present, and any chromosomal abnormalities.