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Table 1 Features of MRD detection methods

From: Prognostic and therapeutic implications of measurable residual disease in acute myeloid leukemia

Platform

Case applicability

Sensitivitya

Advantages (+)/disadvantages (−)

Karyotyping

~ 50%

1/20

+ Widely available

+ Well-standardized

− Slow turnaround time

− Labor intensive

− Requires pre-existing abnormal karyotype

FISH

~ 50%

1/100

+ Useful for numeric cytogenetic abnormalities

+ Relatively quick turnaround time

− Labor intensive

− Requires pre-existing abnormal karyotype

RT-qPCR

~ 40–50%

1/10,000–1/1,000,000

+ Widely available

+ Well-standardized

+ Relatively inexpensive

− Single gene assessed per assay

− Mutations occurring outside of primer-spanning regions of gene will be missed

MFC

Almost all

1/1,000–1/100,000

+ Widely available

+ Relatively quick turnaround time

+ Widely applicable

− Not fully standardized

− Analysis and interpretation require high-level expertize

NGS

> 95%

1/100–1/1,000,000

+ Simultaneous assessment of numerous targets

+ Can detect mutations in any sequenced portion of a gene

+ Very widely applicable

− Not widely available

− Slow turnaround time

− Not standardized

− Expensive (particularly to achieve high sensitivity)

− Analysis and interpretation require high-level expertize

  1. FISH fluorescence in situ hybridization, MFC multiparameter flow cytometry, RT-qPCR reverse transcription-quantitative polymerase chain reaction, NGS next-generation sequencing
  2. aSensitivity is defined as the ability of the assay to reliably detect 1 leukemia-associated target among a maximum of X targets (e.g., some MFC assays can detect 1 leukemic cell among up to 100,000 nucleated cells)