title: Minimal Residual Disease assessment of IDH1/2 mutations in Acute Myeloid Leukemia by LNA-RQ-PCR.
abstract: BACKGROUND
  With the growing importance of minimal residual disease (MRD) monitoring and the recent discover of IDH mutations in acute myeloid leukemia (AML), the quantification of this molecular marker provides the possibility to monitor the disease progression and the therapy efficacy.
  
  
  OBJECTIVE
  The aim of this study is to assess the MRD in AML for the first time with IDH1 and IDH2 gene mutations in 15 AML patients.
  
  
  METHODS
  We have screened R132 IDH1, R140 IDH2 and R172 IDH2 mutations by PCR amplification and direct sequencing and we have quantified them for the first time by RQ-PCR using reverse primers modified by an LNA. A good sensitivity has been obtained. MRD rates obtained by LNA-RQ-PCR were used to draw kinetics of the disease evolution during the follow-up.
  
  
  RESULTS
  IDH1/2 Results were compared to NPM1 mutation and WT1 over expression and have showed coherent kinetic between MRD rates in 7/11 cases. For the rest, the direct sequencing and the high resolution melting (HRM) assay have confirmed the quantification Results in diagnosis but not in residual samples.
  
  
  CONCLUSIONS
  Some optimization will be necessary to improve the mutated allele amplification. The LNA-RQ-PCR might be an easy and less cost method used in a small laboratory for myeloid leukemia MRD assessment using IDH1/2 mutations.
authors: Emna
authors: E
authors: Abdelhamid
authors: Sawsen
authors: S
authors: Besbes
authors: Aline
authors: A
authors: Renneville
authors: Olivier
authors: O
authors: Nibourel
authors: Nathalie
authors: N
authors: Helevaut
authors: Claude
authors: C
authors: Preudhomme
authors: Zohra
authors: Z
authors: Soua
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018365:Neoplasm, Residual / Q000175:diagnosis*; D000090243:Nucleophosmin; D009841:Oligonucleotides; D060888:Real-Time Polymerase Chain Reaction
chemical_list: C000716967:NPM1 protein, human; D009841:Oligonucleotides; C477371:locked nucleic acid; D000090243:Nucleophosmin; C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human