Characteristics of emerging minimal residual disease assays used in pediatric acute lymphoblastic leukemia
| Assay techniques and targets | Applicability and sensitivity | Advantages | Disadvantages |
|---|---|---|---|
| Next-generation flow cytometry for identifying immunophenot-ypic deviations from normal counterparts | >90% | High sensitivity and wide applicability | Requires fresh samples (<24 h) |
| 10−5-10−6 | Short turnaround time | ||
| Does not require prior information on patient-specific aberrant immunophenotype at diagnosis | Requires 4 million cells for a sensitivity of 10−6 | ||
| Lower risk of false negatives caused by immunophenotypic shift during therapy compared to MFC | |||
| Excludes apoptotic cells lacking leukemogenic potential | Requires high-level expertise for interpretation | ||
| Analysis at cell population or single cell level | |||
| Standardized for B-ALL | |||
| Next-generation sequencing for |
>90% | High sensitivity and wide applicability | Long turnaround time |
| 10−5-10−6 | Forgoes the need to design patient-specific/allele specific oligonucleotide primer sets | Risk of disproportional target amplification during multiplex PCR | |
| Does not require knowledge of |
High cost | ||
| Can identify oligoclonality and clonal evolution | |||
| Provides information on B/T-cell background repertoire | |||
| Includes internal quality controls to monitor primer performance, technical variability, and quantitation | |||
| Freely available web-based bioinformatics pipeline | |||
| Standardized for B-ALL | |||
| Potentially useful for other gene mutations | |||
| Digital droplet PCR for fusion transcripts or |
Applicability varies depending on targets: >90% for |
High sensitivity and accuracy | Limited experience for pediatric ALL |
| Does not require a standard curve | Not yet standardized | ||
| 10−5-10−6 | Potentially useful for other gene mutations |
B-ALL, B-cell acute lymphoblastic leukemia;