Quantitative Analysis and Monitoring of EZH2 Mutations Using Liquid Biopsy in Follicular Lymphoma.

Genes
Ákos NagyCsaba Bödör

Abstract

Recent advances in molecular technologies enable sensitive and quantitative assessment of circulating tumor DNA, offering a noninvasive disease monitoring tool for patients with malignant disorders. Here, we demonstrated on four follicular lymphoma cases that circulating tumor DNA based EZH2 mutation analysis performed by a highly sensitive droplet digital PCR method may be a valuable treatment monitoring approach in EZH2 mutant follicular lymphoma. EZH2 variant allele frequencies changed in parallel with the volume of metabolically active tumor sites observed on 18F-fluorodeoxyglucose positron emission tomography combined with computer tomography (PET-CT) scans. Variant allele frequencies of EZH2 mutations decreased or were eliminated rapidly upon successful treatment, with treatment failure being associated with elevated EZH2 variant allele frequencies. We also demonstrated spatial heterogeneity in a patient with two different EZH2 mutations in distinct anatomical sites, with both mutations simultaneously detected in the liquid biopsy specimen. In summary, circulating tumor DNA based EZH2 mutation analysis offers a rapid, real-time, radiation-free monitoring tool for sensitive detection of EZH2 mutations deriving from differe...Continue Reading

References

Apr 1, 1997·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Y BastionB Coiffier
Sep 18, 1998·Annals of Oncology : Official Journal of the European Society for Medical Oncology·J R AndersonD D Weisenburger
Aug 9, 2001·Blood·C M MandigersUNKNOWN Interzol (South-East Netherlands Comprehensive Cancer Centers Cooperative Group)
Oct 10, 2008·Annals of Oncology : Official Journal of the European Society for Medical Oncology·H S HanI S Lossos
Apr 14, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Thomas RelanderRandy D Gascoyne
Jul 29, 2011·Nature·Ryan D MorinMarco A Marra
Dec 16, 2011·BMC Medicine·Jorja D WarrenKaren A Heichman
Jun 1, 2012·Science Translational Medicine·Tim ForshewNitzan Rosenfeld
Jun 9, 2012·Mayo Clinic Proceedings·Stephen M Ansell, James O Armitage
Jun 15, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Clémentine SarkozyHervé Tilly
Sep 25, 2016·Annals of Oncology : Official Journal of the European Society for Medical Oncology·M DreylingUNKNOWN ESMO Guidelines Committee
Nov 11, 2016·Science Translational Medicine·Florian SchererAsh A Alizadeh
Jan 18, 2017·Blood·Davide RossiGianluca Gaidano
Jan 29, 2017·Expert Review of Molecular Diagnostics·Umberto MalapelleCarlos Camps
Oct 28, 2017·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Sotirios LakisFrank Griesinger
Jul 11, 2018·Journal of Internal Medicine·T C El-GalalyC Y Cheah
Aug 21, 2018·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·David M KurtzAsh A Alizadeh
Oct 28, 2018·Cellular Oncology (Dordrecht)·Heidi FettkeArun A Azad
Nov 1, 2018·The New England Journal of Medicine·Ryan B Corcoran, Bruce A Chabner
Nov 10, 2018·Nature Reviews. Genetics·Ellen HeitzerMichael R Speicher
Jan 17, 2019·Expert Review of Molecular Diagnostics·Claire FranczakAlexandre Harlé
Apr 11, 2019·Frontiers in Oncology·Franciele H KnebelDenis L Jardim
Dec 14, 2019·Nature Reviews. Disease Primers·Antonino CarboneJude Fitzgibbon

❮ Previous
Next ❯

Citations

May 1, 2021·Cancers·Miho OgawaArinobu Tojo
Sep 12, 2021·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Sara Alonso-ÁlvarezMassimo Federico

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
biopsies

Clinical Trials Mentioned

NCT00140582

Software Mentioned

QuantaSoft

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.