Evidence map›Paper›PMID 37333831›Full record

ArticleFrontiers in oncology2023

Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study.

Zahra Haider, Tove Wästerlid, Linn Deleskog Spångberg, Leily Rabbani, Cecilia Jylhä, Birna Thorvaldsdottir, Aron Skaftason, Hero Nikdin Awier, Aleksandra Krstic, Anna Gellerbring and 9 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 4 institutions in 1 country.

Zahra HaiderDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Tove WästerlidDepartment of Medicine, Division of Clinical Epidemiology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Linn Deleskog SpångbergDepartment of Medicine, Division of Clinical Epidemiology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Leily RabbaniDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Cecilia JylhäDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Birna ThorvaldsdottirDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Aron SkaftasonDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Hero Nikdin AwierDepartment of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Aleksandra KrsticDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Anna GellerbringClinical Genomics Stockholm, Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, Royal Institute of Technology, Stockholm, Sweden.
Anna LyanderClinical Genomics Stockholm, Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, Royal Institute of Technology, Stockholm, Sweden.
Moa HägglundClinical Genomics Stockholm, Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, Royal Institute of Technology, Stockholm, Sweden.
Ashwini JeggariClinical Genomics Stockholm, Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, Royal Institute of Technology, Stockholm, Sweden.
Georgios RassidakisDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Kristina SonneviDepartment of Medicine, Division of Clinical Epidemiology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Birgitta SanderDepartment of Laboratory Medicine, Division of Pathology and Cancer Diagnostics, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Richard RosenquistDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Emma ThamDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Karin E SmedbyDepartment of Medicine, Division of Clinical Epidemiology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Karolinska Institutet · SEKarolinska University Hospital · SEKTH Royal Institute of Technology · SEScience for Life Laboratory · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Analyzing liquid biopsies for tumor-specific aberrations can facilitate detection of measurable residual disease (MRD) during treatment and at follow-up. In this study, we assessed the clinical potential of using whole-genome sequencing (WGS) of lymphomas at diagnosis to identify patient-specific structural (SVs) and single nucleotide variants (SNVs) to enable longitudinal, multi-targeted droplet digital PCR analysis (ddPCR) of cell-free DNA (cfDNA). Methods: In 9 patients with B-cell lymphoma (diffuse large B-cell lymphoma and follicular lymphoma), comprehensive genomic profiling at diagnosis was performed by 30X WGS of paired tumor and normal specimens. Patient-specific multiplex ddPCR (m-ddPCR) assays were designed for simultaneous detection of multiple SNVs, indels and/or SVs, with a detection sensitivity of 0.0025% for SV assays and 0.02% for SNVs/indel assays. M-ddPCR was applied to analyze cfDNA isolated from serially collected plasma at clinically critical timepoints during primary and/or relapse treatment and at follow-up. Results: A total of 164 SNVs/indels were identified by WGS including 30 variants known to be functionally relevant in lymphoma pathogenesis. The most frequently mutated genes included Conclusion: In summary, we demonstrate that multi-targeted cfDNA analysis, using a combination of SNVs/indels and SVs candidates identified by WGS analysis, provides a sensitive tool for MRD monitoring and can detect lymphoma relapse earlier than clinical manifestation.

Indexed as

cell-free DNA (cfDNA)CtDNAdroplet digital (ddPCR)IGH-BCL2 translocationliquid biopsylymphomameasurable (minimal) residual disease (MRD)whole genome sequence (WGS)

Identifiers

PMID37333831
PMCPMC10272573
OpenAlexW4379232937

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.