EZH2 mutations at diagnosis in follicular lymphoma: a promising biomarker to guide frontline treatment

EZH2 is mutated in nearly 25% of follicular lymphoma (FL) cases. Little is known about how EZH2 affects patients' response to therapy. In this context, the aim of this study was to retrospectively analyze the frequency of mutations in EZH2 at diagnosis in tissue and ctDNA in patients with FL an...

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Bibliographic Details
Published in:BMC cancer 2022-09, Vol.22 (1), p.1-982, Article 982
Main Authors: Martínez-Laperche, C, Sanz-Villanueva, L, Díaz Crespo, F. J, Muéiz, P, Martín Rojas, R, Carbonell, D, Chicano, M, Suárez-González, J, Menárguez, J, Kwon, M, Diez Martín, J. L, Buéo, I, Bastos Oreiro, M
Format: Article
Language:English
Subjects:
Analysis
Biological markers
Biomarkers
Cell cycle
Diagnosis
DNA methylation
EZH2
Follicular cysts
Follicular lymphoma
Gene mutations
Genes
Genetic aspects
Health risk assessment
Hematology
Lymphoma
Medical prognosis
Mutation
Patients
Plasma
R-Bendamustine
R-CHOP
Radiation therapy
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Summary:EZH2 is mutated in nearly 25% of follicular lymphoma (FL) cases. Little is known about how EZH2 affects patients' response to therapy. In this context, the aim of this study was to retrospectively analyze the frequency of mutations in EZH2 at diagnosis in tissue and ctDNA in patients with FL and to assess the patients' outcomes after receiving immunochemotherapy, depending on the EZH2 mutation status. Among the 154 patients included in the study, 27% had mutated EZH2 (46% with high-grade and 26% with low-grade FL). Of the mutated tissue samples, the mutation in ctDNA was identified in 44% of cases. EZH2 mutation in ctDNA was not identified in any patient unmutated in the tissue. Unmutated patients who received R-CHOP had significantly more relapses than patients who received R-Bendamustine (16/49 vs. 2/23, p = 0.040). Furthermore, our results show that patients with mutated EZH2 treated with R-CHOP vs. those treated with R-Bendamustine present a lower incidence of relapse (10% vs. 42% p = 0.09 at 4 years), a higher PFS (92% vs. 40% p = 0.039 at 4 years), and higher OS (100% vs. 78% p = 0.039 at 4 years). Based on these data, RCHOP could be a more suitable regimen for mutated patients, and R-bendamustine for unmutated patients. These findings could mean the first-time identification of a useful biomarker to guide upfront therapy in FL. Keywords: Follicular lymphoma, EZH2, R-Bendamustine, R-CHOP
ISSN:1471-2407
1471-2407
DOI:10.1186/s12885-022-10070-z