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Basic concepts of genetic diagnosis

From www.haematologyetc.co.uk

The role of testing for these other genes is not well established but may be useful to better stratify individual patients.


It is important to realise that:

  • NGS describes many mutations in AML often in complex combination where co-occurrence may alter outcome
  • The significance of any single change as an independent predictor of outcome may differ between studies, so caution must be exercised.
  • Statistically significant findings may be based on a relatively small subset of patients or different methods.
  • Many significant genes are also mutated in other myeloid neoplasms so don’t point to a diagnosis


They may fall into many categories:'

DNMT3A, TET2, and IDH1/2 are involved in DNA methylation NRAS, KRAS, BCOR, RUNX1, and WT1 all affect transcription ASXL1, KMT2A (MLL), and PHF6 all affect chromatin remodelling TP53 is a gatekeeper that monitors DNA repair and regulates apoptosis and the cell cycle