engleski

Importance of molecular diagnosis for monitoring MRD

Although many patients with hematologic malignancies achieve a complete clinical remission and remission by morphologic and immunologic criteria, a relatively high proportion of them will ultimately relapse. A persistent malignant cellular population present at low level, below the limit of detection of standard techniques, is the cause of this relapse and is called minimal residual disease (MRD). Several studies have shown that detection and quantification of residual tumor cells significantly correlate with clinical outcome. The quantitative measurement of the decrease in the leukemic cell load during the initial phases of treatment has a high prognostic value. Methods to detect MRD include technologies designed to detect residual malignant cells beyond the sensitivity of conventional approaches. Ideally, techniques used for MRD detection should have a sensitivity level in the 105 – 106 range. Only a few commonly used techniques are sensitive enough for detection of MRD in acute leukemias. Currently, PCR based methods represent the most widely accepted technologies for MRD detection. Over the past 15 years, quantitative PCR assays were developed. Competitive RT-PCR employed to monitor patients after transplantation or treatment with specific agents are time-consuming and cumbersome. Quantification of residual disease has been simplified with the introduction of real-time PCR methodologies and machines. Nested PCR and quantitative real-time PCR can be used for disease-associated translocations. If there is not a good translocation target for PCR analysis, patient-specific gene rearrangements may be targeted.

hematologic malignancies; minimal residual disease

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