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

MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary

3rd Department of Internal Medicine, Semmelweis University, 1088 Budapest, Hungary

National Institute of Hematology and Infectious Diseases, Central Hospital of Southern Pest, 1097 Budapest, Hungary

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Division of Pathology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, 171 77 Stockholm, Sweden

Authors to whom correspondence should be addressed.

Genes 2020, 11(7), 785; https://doi.org/10.3390/genes11070785

Received: 3 May 2020 / Revised: 25 June 2020 / Accepted: 7 July 2020 / Published: 13 July 2020

(This article belongs to the Section Human Genomics and Genetic Diseases)

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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 different anatomical sites in follicular lymphoma patients receiving immunochemotherapy. View Full-Text

Keywords: follicular lymphoma; circulating tumor DNA; liquid biopsy; EZH2; droplet digital PCR

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MDPI and ACS Style

Nagy, Á.; Bátai, B.; Balogh, A.; Illés, S.; Mikala, G.; Nagy, N.; Kiss, L.; Kotmayer, L.; Matolcsy, A.; Alpár, D.; Masszi, T.; Masszi, A.; Bödör, C. Quantitative Analysis and Monitoring of EZH2 Mutations Using Liquid Biopsy in Follicular Lymphoma. Genes 2020, 11, 785. https://doi.org/10.3390/genes11070785

AMA Style

Nagy Á, Bátai B, Balogh A, Illés S, Mikala G, Nagy N, Kiss L, Kotmayer L, Matolcsy A, Alpár D, Masszi T, Masszi A, Bödör C. Quantitative Analysis and Monitoring of EZH2 Mutations Using Liquid Biopsy in Follicular Lymphoma. Genes. 2020; 11(7):785. https://doi.org/10.3390/genes11070785

Chicago/Turabian Style

Nagy, Ákos, Bence Bátai, Alexandra Balogh, Sarolta Illés, Gábor Mikala, Noémi Nagy, Laura Kiss, Lili Kotmayer, András Matolcsy, Donát Alpár, Tamás Masszi, András Masszi, and Csaba Bödör. 2020. "Quantitative Analysis and Monitoring of EZH2 Mutations Using Liquid Biopsy in Follicular Lymphoma" Genes 11, no. 7: 785. https://doi.org/10.3390/genes11070785

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

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