Genomic Profiling for Clinical Decision Making in Lymphoid Neoplasms
Laurence de Leval 1 , Ash A Alizadeh 2 , P Leif Bergsagel 3 , Elias Campo 4 , Andrew John Davies 5 , Ahmet Dogan 6 , Jude Fitzgibbon 7 , Steven M Horwitz 8 , Ari M Melnick 9 , William George Morice 10 , Ryan D Morin 11 , Bertrand Nadel 12 , Stefano A Pileri 13 , Richard Rosenquist 14 , Davide Rossi 15 , Itziar Salaverria 16 , Christian Steidl 17 , Steven P Treon 18 , Andrew D Zelenetz 8 , Ranjana Advani 19 , Carl E Allen 20 , Stephen M Ansell 10 , Wing C Chan 21 , James R Cook 22 , Lucy B Cook 23 , Francesco d'Amore 24 , Stefan Dirnhofer 25 , Martin Dreyling 26 , Kieron Dunleavy 27 , Andrew Feldman 10 , Falko Fend 28 , Philippe Gaulard 29 , Paolo Ghia 30 , John G Gribben 31 , Olivier Hermine 32 , Daniel J Hodson 33 , Eric D Hsi 34 , Giorgio Ga Inghirami 35 , Elaine S Jaffe 36 , Kennosuke Karube 37 , Keisuke Kataoka 38 , Wolfram Klapper 39 , Won Seog Kim 40 , Rebecca L King 41 , Young Hyeh Ko 42 , Ann S LaCasce 43 , Georg Lenz 44 , Iñaki Martin-Subero 45 , Miguel A Piris 46 , Stefania Pittaluga 36 , Laura Pasqualucci 47 , Leticia Quintanilla-Martinez 48 , Scott J Rodig 49 , Andreas Rosenwald 50 , Gilles A Salles 8 , Jesus San-Miguel 51 , Kerry J Savage 52 , Laurie H Sehn 17 , Gianpietro Semenzato 53 , Louis M Staudt 36 , Steven Howard Swerdlow 54 , Constantine S Tam 55 , Judith Trotman 56 , Julie Vose 57 , Oliver Weigert 58 , Wyndham H Wilson 59 , Jane N Winter 60 , Catherine J Wu 61 , Pier Luigi Zinzani 62 , Emanuele Zucca 63 , Adam Bagg 64 , David W W Scott 17
With 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.
While 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, as these will likely become important future tools for implementing precision medicine approaches in clinical decision-making for patients with lymphoid malignancies.
CITATION Blood. 2022 Aug 24;blood.2022015854. doi: 10.1182/blood.2022015854