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Leuk Lymphoma. 2016 Sep;57(9):2171-9. doi: 10.3109/10428194.2016.1139703. Epub 2016 Feb 17.

Digital PCR for quantification of recurrent and potentially actionable somatic mutations in circulating free DNA from patients with diffuse large B-cell lymphoma.

Author information

1
a Department of Hematology , Centre Henri Becquerel , Rouen , France ;
2
b INSERM U918, Centre Henri Becquerel, University of Rouen , Rouen , France ;
3
c INSERM U1079, University of Rouen , Rouen , France ;
4
d Department of Pathology , Centre Henri Becquerel , Rouen , France ;
5
e Department of Genetic Oncology , Centre Henri Becquerel , Rouen , France.

Abstract

Diffuse large B-cell lymphoma (DLBCL) is an aggressive and heterogeneous malignancy harboring frequent targetable activating somatic mutations. Emerging evidence suggests that circulating cell-free DNA (cfDNA) can be used to detect somatic variants in DLBCL using Next-Generation Sequencing (NGS) experiments. In this proof-of-concept study, we chose to develop simple and valuable digital PCR (dPCR) assays for the detection of recurrent exportin-1 (XPO1) E571K, EZH2 Y641N, and MYD88 L265P mutations in DLBCL patients, thereby identifying patients most likely to potentially benefit from targeted therapies. We demonstrated that our dPCR assays were sufficiently sensitive to detect rare XPO1, EZH2, and MYD88 mutations in plasma cfDNA, with a sensitivity of 0.05%. cfDNA somatic mutation detection by dPCR seems to be a promising technique in the management of DLBCL, in addition to NGS experiments.

TRIAL REGISTRATION:

ClinicalTrials.gov NCT02339805.

KEYWORDS:

Circulating DNA; DLBCL; digital PCR; exportin-1; somatic mutations

PMID:
26883583
DOI:
10.3109/10428194.2016.1139703
[Indexed for MEDLINE]

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