Clinical Implications of Genetic and Molecular Abnormalities

In recent years, gene mutations and deregulated expression of genes and noncoding RNAs (ie, micro RNAs) have been discovered, providing insights into chromosomal abnormalities and molecular changes.1 These insights and learnings have significant clinical impact1:

  • An increasing number of cases of acute myeloid leukemia (AML) can now be categorized on the basis of the underlying genetic defects that define distinct clinicopathologic entities
  • It is now clear that specific chromosomal abnormalities and molecular genetic changes are among the most important prognostic markers and, therefore, may be used for stratification of patients with AML to inform therapeutic strategies
  • It is anticipated that these genetic markers will acquire a predictive value, that is, the ability to predict differential efficacy of therapy. Thus, genetic markers may allow optimal treatment of distinct subtypes of AML

Reference: 1. Marcucci G, Haferlach T, Döhner H. Molecular genetics of adult acute myeloid leukemia: prognostic and therapeutic implications. J Clin Oncol. 2011;29(5):475-486.