• Eva Barragan, Juan C Pajuelo, Sandra Ballester, Oscar Fuster, Jose Cervera, Federico Moscardo, Leonor Senent, Esperanza Such, Miguel A Sanz, and Pascual Bolufer.
• Department of Medical Pathology, Hospital Universitario La Fe Valencia, Spain. barragan_eva@gva.es
• Clin. Chim. Acta. 2008 Sep 1;395(1-2):120-3.

BackgroundMolecular analysis of minimal residual disease is only applicable in acute myeloblastic leukemia (AML) patients with genetic markers (20-30%). This study analyzes the feasibility of the real-time quantitative polymerase chain reaction (RQ-PCR) assay to detect mutant nucleophosmin (NPM1) during follow-up in AML patients. Moreover, we compare the NPM1 results with those of WT1 expression to MRD assessment.MethodsThe study includes 97 samples from 24 AML patients with type A NPM1 mutation at diagnosis. MRD was evaluated simultaneous by RQ-PCR assay to detect NPM1-mutated and WT1 expression.ResultsThe expression levels of WT1 and NPM1 in 93 paired samples showed a strong positive correlation (r=0.81; p<0.0001). However, the kinetics of disappearance were different, WT1 decreased rapidly after induction but maintained these residual levels after treatment in patients in complete remission, whereas NPM1 experienced a mild reduction after induction but was undetectable in long survivor patients.ConclusionsThis study shows the feasibility of the RQ-PCR assay to monitor MRD in AML patients carrying NPM1 mutations and its advantage over RQ-PCR assay for WT1. Owing to NPM1-mutated is specific of leukemic cells and shows higher levels at presentation.

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