Chronic Lymphocytic Leukemia (CLL)

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Chronic lymphocytic leukemia (CLL) is a type of leukemia with small, mature lymphocytes which represents 1.4% of all new cancer cases and remains the most prevalent adult leukemia in western countries.

IGHV mutational status and detection of abnormalities in the TP53 gene is being utilized for prognostic counselling, selection, and sequencing of therapy approaches. TP53 mutations are associated with more aggressive tumours and poor overall outcome. The National Comprehensive Cancer Network (NCCN) in 2019 recommended TP53 mutation testing prior to therapy initiation in patients with CLL/SLL. Ibrutinib is an FDA-approved BTK inhibitor for CLL patients with mutations that alter the TP53 function.

Assessed minimal residual disease (MRD) after treatment by NGS of IGH and IGK rearrangements in CLL has been recommended in clinical trials (NCCN). MRD quantification with this method assesses treatment response (Ibrutinib, Venetoclax, Immunotherapy, fludarabine-cyclophosphamide-rituximab, bendamustine-immunotherapy or venetoclax-inmunotherapy), monitors remission status and detects early relapse.

The Altum test comprises a DNA-based multigene panel by NGS of bone marrow aspirates at diagnosis, and MRD testing in follow-up samples with NGS based assays to detect IGH rearrangements with a sensitivity of 1 in 106 nucleated cells in parallel with NGS based assays to detect mutated genes identified in the diagnosis panel (Thermofisher platform), and provides a detailed clinical analysis of the results.

Diagnosis/Relapse tests

  • V(D)J Clonotype detection by NGS.
  • Hyper mutational status.
  • Mutational screening using a targeted NGS panel.
  • Mutational screening by whole exome sequencing.
  • Mutational screening in liquid biopsy.
  • Transcriptome profiling using RNA-seq.
  • Gene expression analysis by RT-PCR.

Minimal Residual Disease (MRD) tests

  • MRDeep: MRD assesment by V(D)J clonotypes detection using NGS.
  • CloneSight-CLL: MRD assesment in liquid biopsy by personalized tumor biomarkers detection using NGS.