Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review
Abstract
:Simple Summary
Abstract
1. Introduction
2. Acute Myeloid Leukemia
2.1. Diagnosis
2.2. Classification
2.3. AML Pathogenesis and Prognosis
2.4. Therapy and Outcomes
3. Measurable Residual Disease (MRD)
The Emerging Role of MRD in the Therapeutic Scenario
4. Traditional Techniques for Diagnosis and Monitoring of MRD
4.1. Multiparametric Flow Cytometry (MFC)
4.2. Molecular-Based Techniques
4.2.1. Reverse Transcription Polymerase Chain Reaction (RT-PCR)
4.2.2. Next-Generation Sequencing (NGS)
5. Microfluidics for MRD Detection in AML Disease
5.1. Microfluidics in MRD Condition
5.2. Microfluidics for Isolation of Circulating Leukemic Blasts (CLCs)
6. Emerging Technologies for the Diagnosis of MRD
6.1. Digital PCR (dPCR)
6.2. LNA-qPCR
6.3. Surface-Enhanced Raman Scattering for Diagnosis of AML
7. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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AML with Recurrent Genetic Abnormalities (Now Requiring ≥10% Blasts in BM or PB) |
---|
APL with a translocation between chromosomes 15 and 17-t(15;17)(q22;q12)/PML-RARA |
APL with other RARA rearrangements |
AML with a translocation between chromosomes 8 and 21-t(8;21)(q22;q22); RUNX1::RUNX1T1 |
AML with a inversion or translocation in chromosome 16-inv(16)(pl3.1q22) or t(16;16)(p13.1;q22)/CBFB::MYH11 |
AML with a translocation between chromosomes 9 and 11-t(9;11)(p21.3;q23.3); MLLT3::KMT2A |
AML with other KMT2A rearrangements |
AML with a translocation between chromosomes 6 and 9-t(6;9)(p22.3;q34.1)/DEK-NUP214 AML with a translocation or inversion in chromosome 3-inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)/GATA2;MECOM(EVI1) |
AML with other MECOM rearrangements |
AML with other rare recurring translocations |
AML with mutated NPM1 |
AML with in-frame bZIP CEBPA mutations |
AML with translocation between chromosomes 9 and 22 t(9;22)(q34.1;q11.2)/BCR::ABL1 |
Myeloid Sarcoma |
Acute leukemia of ambiguous lineage |
Acute undifferenciated leukemia Mixed phenotype acute leukemia (MPAL) with translocation between chromosomes 9 and 22-t(9;22)(q34.1;q11.2)/BCR::ABL1 |
MPAL t(v;11q23.3)/KMT2A-rearranged |
MPAL, B/myeloid, not otherwise specified |
MPAL, T/myeloid, not otherwise specified |
Categories designated AML (≥20% blasts in BM and PB) or MDS/AML (if ≥10 to 19% blasts in BM and PB) |
AML with mutated TP53 |
AML with myelodysplasia-related gene mutations defined by: mutations in ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, and/or ZRSR2 |
AML with myelodysplasia-related cytogenetic abnormalitiesj |
AML not otherwise specified |
Myeloid neoplasms associated to Down syndrome |
Transient abnormal myelopoiesis associated with Down syndrome |
Myeloid leukemia associated with Down syndrome |
Blastic plasmacytoid dendritic cell neoplasm |
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Teixeira, A.; Carreira, L.; Abalde-Cela, S.; Sampaio-Marques, B.; Areias, A.C.; Ludovico, P.; Diéguez, L. Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review. Cancers 2023, 15, 1362. https://doi.org/10.3390/cancers15051362
Teixeira A, Carreira L, Abalde-Cela S, Sampaio-Marques B, Areias AC, Ludovico P, Diéguez L. Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review. Cancers. 2023; 15(5):1362. https://doi.org/10.3390/cancers15051362
Chicago/Turabian StyleTeixeira, Alexandra, Luís Carreira, Sara Abalde-Cela, Belém Sampaio-Marques, Anabela C. Areias, Paula Ludovico, and Lorena Diéguez. 2023. "Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review" Cancers 15, no. 5: 1362. https://doi.org/10.3390/cancers15051362