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American Society of Hematology, Blood, 21(140), p. 2193-2227, 2022

DOI: 10.1182/blood.2022015854

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Genomic profiling for clinical decision making in lymphoid neoplasms

Journal article published in 2022 by Laurence de Leval ORCID, Ash A. Alizadeh ORCID, P. Leif Bergsagel ORCID, Elias Campo ORCID, Andrew Davies ORCID, Ahmet Dogan ORCID, Jude Fitzgibbon ORCID, Steven M. Horwitz ORCID, Ari M. Melnick ORCID, William G. Morice ORCID, Ryan D. Morin ORCID, Bertrand Nadel ORCID, Stefano A. Pileri ORCID, Richard Rosenquist ORCID, Davide Rossi and other authors.
Distributing this paper is prohibited by the publisher
Distributing this paper is prohibited by the publisher

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Abstract

AbstractWith the introduction of large-scale molecular profiling methods and high-throughput sequencing technologies, the genomic features of most lymphoid neoplasms have been characterized at an unprecedented scale. Although the principles for the classification and diagnosis of these disorders, founded on a multidimensional definition of disease entities, have been consolidated over the past 25 years, novel genomic data have markedly enhanced our understanding of lymphomagenesis and enriched the description of disease entities at the molecular level. Yet, the current diagnosis of lymphoid tumors is largely based on morphological assessment and immunophenotyping, with only few entities being defined by genomic criteria. This paper, which accompanies the International Consensus Classification of mature lymphoid neoplasms, will address how established assays and newly developed technologies for molecular testing already complement clinical diagnoses and provide a novel lens on disease classification. More specifically, their contributions to diagnosis refinement, risk stratification, and therapy prediction will be considered for the main categories of lymphoid neoplasms. The potential of whole-genome sequencing, circulating tumor DNA analyses, single-cell analyses, and epigenetic profiling will be discussed because these will likely become important future tools for implementing precision medicine approaches in clinical decision making for patients with lymphoid malignancies.