Genomic profiling for clinical decision making in lymphoid neoplasms.
Laurence L de LevalAsh A AlizadehPeter Leif BergsagelElias CampoAndrew John DaviesAhmet DoganJude FitzgibbonSteven M HorwitzAri M MelnickWilliam George MoriceRyan D MorinBertrand NadelStefano A PileriRichard RosenquistDavide RossiItziar SalaverriaChristian SteidlSteven P TreonAndrew D ZelenetzRanjana H AdvaniCarl E AllenStephen M AnsellWing C John ChanJames R CookLucy B M CookFrancesco d'AmoreStefan DirnhoferMartin DreylingKieron DunleavyAndrew L FeldmanFalko FendPhilippe GaulardPaolo GhiaJohn G GribbenOlivier HermineDaniel James HodsonEric D HsiGiorgio Ga InghiramiElaine S JaffeKennosuke KarubeKeisuke KataokaWolfram KlapperWon Seog KimRebecca L KingYoung-Hyeh KoAnn Steward LaCasceGeorg LenzJosé I Martin-SuberoMiguel Angel PirisStefania PittalugaLaura PasqualucciLeticia Quintanilla-FendScott J RodigAndreas RosenwaldGilles Andre SallesJesús San F MiguelKerry Joane SavageLaurie Helen SehnGianpietro C SemenzatoLouis M StaudtSteven Howard SwerdlowConstantine S TamJudith TrotmanJulie M VoseOliver WeigertWyndham H WilsonJane N WinterCatherine J WuPier Luigi Luigi ZinzaniEmanuele ZuccaAdam BaggDavid W ScottPublished in: Blood (2022)
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. 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.