Next Generation Sequencing in AML-On the Way to Becoming a New Standard for Treatment Initiation and/or Modulation?

Cancers
Michael LeischLisa Pleyer

Abstract

Acute myeloid leukemia (AML) is a clonal disease caused by genetic abberations occurring predominantly in the elderly. Next generation sequencing (NGS) analysis has led to a deeper genetic understanding of the pathogenesis and the role of recently discovered genetic precursor lesions (clonal hematopoiesis of indeterminate/oncogenic potential (CHIP/CHOP)) in the evolution of AML. These advances are reflected by the inclusion of certain mutations in the updated World Health Organization (WHO) 2016 classification and current treatment guidelines by the European Leukemia Net (ELN) and National Comprehensive Cancer Network (NCCN) and results of mutational testing are already influencing the choice and timing of (targeted) treatment. Genetic profiling and stratification of patients into molecularly defined subgroups are expected to gain ever more weight in daily clinical practice. Our aim is to provide a concise summary of current evidence regarding the relevance of NGS for the diagnosis, risk stratification, treatment planning and response assessment in AML, including minimal residual disease (MRD) guided approaches. We also summarize recently approved drugs targeting genetically defined patient populations with risk adapted- and in...Continue Reading

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Citations

Mar 25, 2020·British Journal of Haematology·Matthew S PainschabTamiwe Tomoka
May 19, 2020·British Journal of Haematology·Michael LeischLisa Pleyer
Jul 18, 2020·Molecular Diagnosis & Therapy·Joonhong ParkMyungshin Kim
Jul 30, 2020·Current Oncology Reports·Maya AbdallahKah Poh Loh
Dec 29, 2020·Frontiers in Cell and Developmental Biology·Deepshi ThakralSangeeta Vashishtha
Mar 14, 2021·American Journal of Clinical Pathology·Audrey N JajoskyHoward J Meyerson
May 18, 2021·Therapeutic Advances in Hematology·Kimberley DoucetteCatherine Lai

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Methods Mentioned

BETA
exome sequencing
MDS
chromosomal abberations
PCR
Assay
flow cytometry
flow

Clinical Trials Mentioned

NCT02421939
NCT02752035
NCT02039726
NCT03258931
NCT01915498
NCT02074839
NCT01994837
NCT02203773
NCT00674479

Software Mentioned

SmidgION
First
QuANTUM
PromethION
GridION

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