Towards precision medicine in lymphoid malignancies

被引：16

作者：

Buhler, Marco M. ^{[1
,2
,3
]}

Martin-Subero, Jose, I ^{[2
,3
,4
,5
]}

Pan-Hammarstrom, Qiang ^{[6
]}

Campo, Elias ^{[2
,3
,4
]}

Rosenquist, Richard ^{[7
,8
]}

机构：

[1] Univ Hosp Zurich, Dept Pathol & Mol Pathol, Zurich, Switzerland

[2] Inst Investigac Biomed August Pi & Sunyer IDIBAP, Barcelona, Spain

[3] Univ Barcelona, Hosp Clin Barcelona, Lab Pathol, Hematopathol Sect, Barcelona, Spain

[4] Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain

[5] Inst Catalana Recerca & Estudis Avancats ICREA, Barcelona, Spain

[6] Karolinska Inst, Dept Biosci & Nutr, Huddinge, Sweden

[7] Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden

[8] Karolinska Univ Hosp, Karolinska Univ Lab, Clin Genet, Solna, Sweden

来源：

JOURNAL OF INTERNAL MEDICINE | 2022年 / 292卷 / 02期

基金：

瑞典研究理事会; 欧洲研究理事会;

关键词：

biomarkers; comprehensive molecular profiling; (epi)genetics; lymphoid malignancies; precision medicine; single-cell sequencing; CHRONIC LYMPHOCYTIC-LEUKEMIA; MARGINAL ZONE LYMPHOMA; MANTLE CELL LYMPHOMA; CIRCULATING TUMOR DNA; FOLLICULAR LYMPHOMA; RECURRENT MUTATIONS; SOMATIC MUTATION; CLINICAL IMPACT; GENE-EXPRESSION; WALDENSTROM MACROGLOBULINEMIA;

D O I：

10.1111/joim.13423

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Careful histopathologic examination remains the cornerstone in the diagnosis of the clinically and biologically heterogeneous group of lymphoid malignancies. However, recent advances in genomic and epigenomic characterization using high-throughput technologies have significantly improved our understanding of these tumors. Although no single genomic alteration is completely specific for a lymphoma entity, some alterations are highly recurrent in certain entities and thus can provide complementary diagnostic information when integrated in the hematopathological diagnostic workup. Moreover, other alterations may provide important information regarding the clinical course, that is, prognostic or risk-stratifying markers, or response to treatment, that is, predictive markers, which may allow tailoring of the patient's treatment based on (epi)genetic characteristics. In this review, we will focus on clinically relevant diagnostic, prognostic, and predictive biomarkers identified in more common types of B-cell malignancies, and discuss how diagnostic assays designed for comprehensive molecular profiling may pave the way for the implementation of precision diagnostics/medicine approaches. We will also discuss future directions in this rapidly evolving field, including the application of single-cell sequencing and other omics technologies, to decipher clonal dynamics and evolution in lymphoid malignancies.

引用

页码：221 / 242

页数：22

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