PhD Scientific Days 2022

Pathology and Oncology II. (Poster discussion will take place on the terrace of the room during the Coffee Break)

EZH2 Mutations are More Frequent in Follicular Lymphoma if Tested Parallelly on Liquid and Tissue Biopsy Samples

Előadó neve

Dr. Nagy, Ákos

Előadó munkahelye

Department of Pathology and Experimental Cancer Research, Semmelweis University

Előadó telefonszáma

+36305310236

Előadó e-mail címe

nagy.akos1@med.semmelweis-univ.hu

Az előadás címe

EZH2 Mutations are More Frequent in Follicular Lymphoma if Tested Parallelly on Liquid and Tissue Biopsy Samples

Szerző(k) neve és munkahelye

Ákos Nagy1, Bence Bátai1, Laura Kiss1, Alexandra Balogh2, Gábor Mikala3, Péter Attila Király4, Tamás Schneider4, András Masszi4, Ádám Jóna5, Judit Demeter6, Tamás Masszi2, Csaba Bödör1

1 HCEMM-SE Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest
2 Department of Internal Medicine and Hematology, Semmelweis University, Budapest
3National Institute of Hematology and Infectious Diseases, Central Hospital of Southern Pest, Budapest
4National Institute of Oncology, Budapest
5Hematology Division, Department of Internal Medicine, University of Debrecen, Debrecen
6Department of Internal Medicine and Oncology, Semmelweis University, Budapest

Bemutatás módja

Szóbeli

Szekció

Pathology and Oncology II. (Poster discussion will take place on the terrace of the room during the Coffee Break)

Language of the presentation

English

Preferred session

Pathology and Oncology

Összefoglaló szövege

INTRODUCTION: Recent studies interrogating the genomic background of follicular lymphoma (FL) have revealed that all patients carry at least one pathogenic alteration in the components of the epigenetic regulator system. EZH2 mutations, the third most common epigenetic lesions in this disease are present in around 25% of cases. It is well established, that tissue biopsy (TB) based molecular testing may not capture the full genetic background of a spatially heterogeneous tumor, such as FL. Liquid biopsy (LB), the minimal invasive testing of tumor derived cell-free DNA in blood plasma may overcome this limitation. The gain of function nature of EZH2 mutations triggered successful pharmaceutical small molecular inhibitor development, however superior effectivity was found in patients harboring EZH2 mutations, therefore molecular tests detecting these alterations are of great clinical relevance.

AIMS: In this study, we aimed to develop a novel LB based method to detect EZH2 mutations in plasma samples of patients with FL.

METHODS: Pre-treatment LB and TB samples were collected from 112 patients. The EZH2 mutation status was assessed using an in-house designed multiplex digital droplet PCR approach.

RESULT: Altogether, EZH2 mutation frequency was found to be 38.4% (43/112), meanwhile TB based analysis resulted in only 31.25% (35/112) mutation positivity. LB analysis recovered additional eight (7%) patients harboring EZH2 mutations, however in five patients (4.5%) the EZH2 mutation was exclusively detected in the TB specimen. Comparing LB to TB, the specificity, sensitivity, and the negative predictive value of our method was 89.6%, 88.3% and 93.2%, respectively.

CONCLUSION: Here, we have developed a novel minimal-invasive EZH2 mutation detection test. Due to the ability of this approach to resolve spatial heterogeneity, our method detected higher frequency of EZH2 mutations in FL patients compared to historical data, which further expands the subset of FL patients who would most likely benefit from the recently developed EZH2 inhibitor therapy.

Funding: NKFIH KDP-1022882, EFOP-3.6.3-VEKOP-16-2017-00009, ÚNKP-21-3, H2020-739593, K21_137948, TKP2021-EGA-24, TKP2021-NVA-15 and Elixir Hungary.

University and Doctoral School

Semmelweis University, Doctoral School of Pathological Sciences

Supervisor

Dr. Csaba Bödör

Publication of my abstract

I do not give consent to the publication of my abstract on the website of the congress.

Kind

Szabad

Status

elfogadva

Accepted presentation method

szóbeli

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

4675

Start

10:30

End

10:45

Authors (legacy)

Ákos Nagy1, Bence Bátai1, Laura Kiss1, Alexandra Balogh2, Gábor Mikala3, Péter Attila Király4, Tamás Schneider4, András Masszi4, Ádám Jóna5, Judit Demeter6, Tamás Masszi2, Csaba Bödör1

1 HCEMM-SE Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest
2 Department of Internal Medicine and Hematology, Semmelweis University, Budapest
3National Institute of Hematology and Infectious Diseases, Central Hospital of Southern Pest, Budapest
4National Institute of Oncology, Budapest
5Hematology Division, Department of Internal Medicine, University of Debrecen, Debrecen
6Department of Internal Medicine and Oncology, Semmelweis University, Budapest