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Next-generation sequencing in AML
leukemia are monitored by measuring BCR-ABL1 levels in peripheral blood. Likewise, in mutant NPM1 AML, response to treatment can be effectively ascertained in peripheral blood. Studies should be carried out to deter- mine whether peripheral blood is also an alternative for NGS-based MRD monitoring in AML for a broader spec- trum of molecular alterations.
Conclusions
NGS at diagnosis is essential for accurate risk stratifica- tion of AML patients according to the 2017 ELN recom- mendations and has now been implemented in many molecular diagnostic laboratories. Currently, the major limitations of the NGS-based methodology of detecting MRD are related to the limited sensitivity and specificity of the assays and the inability to discriminate correctly between residual leukemia and clonal hematopoiesis.
Improvements need to be made in these areas before NGS-based MRD detection can be successfully imple- mented in routine practice.
Acknowledgments
R.L.L. is on the supervisory board of Qiagen and is a scientific advisor to Loxo, Imago, C4 Therapeutics and Isoplexis, which each include an equity interest. He receives research support from and consulted for Celgene and Roche, he has received research support from Prelude Therapeutics, and he has consult- ed for Incyte, Novartis, Morphosys and Janssen. He has received honoraria from Lilly and Amgen for invited lectures and from Gilead for grant reviews.
Funding
This work was supported in part by MSKCC Support Grant/Core Grant P30 CA008748 and the Netherlands
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