Tracking myeloma tumor DNA in peripheral blood

被引：9

作者：

Waldschmidt, Johannes M. ^{[1
,2
,3
]}

Vijaykumar, Tushara ^{[1
]}

Knoechel, Birgit ^{[2
,3
,4
]}

Lohr, Jens G. ^{[1
,2
,3
]}

机构：

[1] Harvard Med Sch, Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[2] Harvard Med Sch, Boston, MA 02115 USA

[3] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[4] Harvard Med Sch, Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA

来源：

BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY | 2020年 / 33卷 / 01期

关键词：

Cell-free DNA; Genomic profiling; Liquid biopsy; Next-generation sequencing; MRD; Early cancer detection; MINIMAL RESIDUAL DISEASE; MONITORING MULTIPLE-MYELOMA; STEM-CELL TRANSPLANTATION; CANCER-THERAPY; LIQUID BIOPSY; FLOW; MUTATION; SERUM; HETEROGENEITY; RESISTANCE;

D O I：

10.1016/j.beha.2020.101146

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Over the past years, the emergence of liquid biopsy technologies has dramatically expanded our ability to assess multiple myeloma without the need for invasive sampling. Interrogation of cell-free DNA from the peripheral blood recapitulates the mutational landscape at excellent concordance with matching bone marrow aspirates. It can quantify disease burden and identify previously undetected resistance mechanisms which may inform clinical management in real-time. The convenience of sample acquisition and storage provides strong procedural benefits over currently available testing. Further investigations will have to define the role of cell-free DNA as a diagnostic measure by determining clinically relevant tumor thresholds in comparison to existing routine parameters. This review presents an overview of currently available assays and discusses the clinical value, potential and limitations of cell-free DNA technologies for the assessment of this challenging disease.

引用

页数：7

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