Monitoring of minimal residual disease in acute myeloid leukemia with frequent and rare patient-specific NPM1 mutations
| Authors | |
|---|---|
| Year of publication | 2010 |
| Type | Article in Periodical |
| Magazine / Source | American Journal of Hematology |
| MU Faculty or unit | |
| Citation | |
| Web | http://onlinelibrary.wiley.com/doi/10.1002/ajh.21879/abstract |
| Field | Oncology and hematology |
| Keywords | minimal residual disease; AML; NPM1 mutation |
| Description | Nucleophosmin (NPM1) mutations in exon 12 are the most common genetic alternation in cytogenetically normal AML (CN-AML). In this study, we have evaluated a novel, DNAbased real-time quantitative polymerase chain reaction (RQ-PCR) for the detection of three of the most commonly occurring mutations (A,B,D) and for six rare patient-specific mutation types, which represent 28% of all of the NPM1 mutations in our group of 25 CN-AML patients. Furthermore, the prognostic relevance of NPM1- based monitoring of minimal residual disease (MRD) in peripheral blood (PB), bone marrow (BM), and in specific cell subsets (CD341, CD342, CD34dim) of BM were evaluated. In 80% of the evaluable patients, a molecular relapse preceded a hematological relapse. Moreover, in this subset of patients, the molecular relapse occurred at a median of 97 days before the hematological relapse. Our analysis showed a strong correlation between BM and PB as well as a high copy number of mutated NPM1 in CD341 BM cells. In conclusion, we have demonstrated applicability of our presented RQPCR method for a large percentage of mutated NPM1 patients with CN-AML as well as the usefulness for long-term follow-up monitoring of MRD and the prediction of hematological relapse. |
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