Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia

Eric J. Duncavage, Adam Bagg, Robert P. Hasserjian, Courtney D. DiNardo, Lucy A. Godley, Ilaria Iacobucci, Siddhartha Jaiswal, Luca Malcovati, Alessandro M. Vannucchi, Keyur P. Patel, Daniel A. Arber, Maria E. Arcila, Rafael Bejar, Nancy Berliner, Michael J. Borowitz, Susan Branford, Anna L. Brown, Catherine A. Cargo, Hartmut Döhner, Brunangelo FaliniGuillermo Garcia-Manero, Torsten Haferlach, Eva Hellström-Lindberg, Annette S. Kim, Jeffery M. Klco, Rami Komrokji, Mignon Lee-Cheun Loh, Sanam Loghavi, Charles G. Mullighan, Seishi Ogawa, Attilio Orazi, Elli Papaemmanuil, Andreas Reiter, David M. Ross, Michael Savona, Akiko Shimamura, Radek C. Skoda, Francesc Solé, Richard M. Stone, Ayalew Tefferi, Matthew J. Walter, David Wu, Benjamin L. Ebert, Mario Cazzola

Research output: Contribution to journalComment/debate

72 Scopus citations


Myeloid neoplasms and acute leukemias derive from the clonal expansion of hematopoietic cells driven by somatic gene mutations. Although assessment of morphology plays a crucial role in the diagnostic evaluation of patients with these malignancies, genomic characterization has become increasingly important for accurate diagnosis, risk assessment, and therapeutic decision making. Conventional cytogenetics, a comprehensive and unbiased method for assessing chromosomal abnormalities, has been the mainstay of genomic testing over the past several decades and remains relevant today. However, more recent advances in sequencing technology have increased our ability to detect somatic mutations through the use of targeted gene panels, whole-exome sequencing, whole-genome sequencing, and whole-transcriptome sequencing or RNA sequencing. In patients with myeloid neoplasms, whole-genome sequencing represents a potential replacement for both conventional cytogenetic and sequencing approaches, providing rapid and accurate comprehensive genomic profiling. DNA sequencing methods are used not only for detecting somatically acquired gene mutations but also for identifying germline gene mutations associated with inherited predisposition to hematologic neoplasms. The 2022 International Consensus Classification of myeloid neoplasms and acute leukemias makes extensive use of genomic data. The aim of this report is to help physicians and laboratorians implement genomic testing for diagnosis, risk stratification, and clinical decision making and illustrates the potential of genomic profiling for enabling personalized medicine in patients with hematologic neoplasms.

Original languageEnglish
Pages (from-to)2228-2247
Number of pages20
Issue number21
StatePublished - Nov 24 2022


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