Acute Myeloid Leukemia (AML)

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Acute myeloid leukemia (AML) represents 1.2% of all new cancer cases and is the most common type of acute leukemia in adults;

In USA, 22.000 new cases are diagnosed each year, of which 60% are fatal during the first 3 years. It is a heterogeneous hematologic malignancy characterized by the clonal expansion of myeloid blasts in bone marrow, peripheral blood, and other organs. Refractoriness to induction treatment and relapse after achieving complete remission (CR) are the main causes of death in AML.

Stratification of patients into various risk groups based on the chromosomal and molecular markers is being utilized for prognosis counselling and selection of therapy consolidation approaches. Several gene mutations are associated with specific prognoses in a subset of patients, and may guide treatment decisions:

  • c-KIT
  • FLT3-ITD
  • FLT3-TKD
  • NPM1
  • CEBPA
  • IDH1/IDH2
  • RUNX1
  • TP53

The National Comprehensive Cancer Network (NCCN) and the European Leukemia Net (ELN) recommend that all patients should be tested for mutations in these genes by NGS.

A high proportion of patients with AML who achieve complete remission ultimately relapse because a fraction of the pathological clones remains undetected by standard methods. NGS-based minimal residual disease (MRD) assessment after treatment to detect mutated genes is included in the recommendations for follow-up of AML patients by NCCN and ELN. In addition, it predicts long-term outcomes, identifies subsidiary patients who are to undergo allogeneic transplantation, assesses treatment response (cytotoxic drugs, TKIs, Immunotherapy or stem cell transplant), monitors remission status and detects early relapse.

Diagnosis/Relapse tests
  • FLT3-ITD (GeneScan).
  • WT-1 gene expression quantification.
  • NPM1 (copy number & ratio).
  • Mutational status: FLT3, CEBPA, IDH1/IDH2, DNMT3A, NPM1.
  • Gene rearrangments: RUNX1/RUNX1T1, CBF/MYH11, CBFB/MYH11 Inv16.
  • Mutational screening using a targeted panel (43 genes).
  • Mutational screening by whole exome sequencing.
  • Transcriptome profiling using RNA-seq.
  • Gene expression analysis by RT-PCR.
  • CloneSight-Dx: Mutational screening in liquid biopsy using a targeted gene panel ( 35 genes).
Minimal Residual Disease (MRD) tests
  • CloneSight-MRD : MRD assesment in bone marrow by personalized tumor biomarkers monitoring using NGS.
  • CloneSignt Dual-MRD: MRD assesment in liquid biopsy (cfDNA and CTC) by personalized tumor biomarkers monitoring using NGS.
  • ClonEv-AML: Ultrasenitive detection of emerging mutations related to drug resistance in liquid biopsy by NGS.