PhD Scientific Days 2023

Pathology - Posters D

Optical Genome Mapping in Acute Leukaemias: First Hungarian Experience with the Digital Cytogenomics

Előadó neve

Dr. Bekő, Anna

Neptun code

CVMA5C

Előadó munkahelye

HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest

Előadó telefonszáma

+36308750849

Előadó e-mail címe

beko.anna@stud.semmelweis.hu

Az előadás címe

Optical Genome Mapping in Acute Leukaemias: First Hungarian Experience with the Digital Cytogenomics

Szerző(k) neve és munkahelye

Anna Bekő1, Katalin Csonka1, Bettina Aranka Bohusné Barta1, Lajos Hegyi1, Donát Alpár1, Csaba Bödör1

1HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology
and Experimental Cancer Research, Semmelweis University, Budapest

Bemutatás módja

Poszter

Szekció

Pathology - Posters D

Language of the presentation

English

Preferred session

Pathology and Oncology

Összefoglaló szövege

Introduction: Besides the modern molecular methods, detection of structural variants (SV) and copy number variations (CNV) using chromosome banding analysis (CBA) and Fluorescence In Situ Hybridization (FISH) still plays a major role in the diagnosis of haematological malignancies. Optical Genome Mapping (OGM) is a next-generation cytogenomic method that can simultaneously identify CNVs and SVs greater than 500 bp within 5 days without the need of cell cultures.

Aim: We aimed to detect chromosomal aberrations in acute leukaemias using OGM, and to test the feasibility of OGM in routine diagnostics in comparison with CBA and FISH analyses.

Methods: Ultra-high molecular weight DNA was isolated from 35 diagnostic or relapsed acute myeloid leukaemia (AML) and 2 blast phase chronic myeloid leukaemia samples. After labelling the DNA, data were collected by the optical system of the Saphyr instrument (Bionano, San Diego, USA) and were analysed using the Bionano Access software: SVs were described after standard and AML specific filtering, CNVs >5000kb without further filtering. Findings obtained by OGM were compared with CBA/FISH results of the same samples.

Results: A total of 70 CNVs were detected in 37 samples using OGM; 643 SVs with the standard and 84 SVs with the AML-specific filters. CBA and/or FISH was performed in 29 cases, among them 13 AML patients were classified into prognostic groups according to the 2022 ELN risk classification, while with OGM, 19 patients were classified. Complex karyotype (CK) was identified in 5 cases by CBA/FISH, and in 15 cases by OGM. In two cases, these results changed the intermediate prognostic classification defined by CBA/FISH to unfavourable. In the 29 samples (5 CK and 24 non-CK) where CBA/FISH were performed OGM showed full concordance with their results in 86%, in the CK and non-CK cases the concordance was 60 % and 92%, respectively. In addition, we detected 3 cases of KMT2A partial tandem duplication (intermediate prognosis) and 3 cases with MECOM gene rearrangements (poor prognosis).

Conclusion: The use of OGM allows the detection of clinically relevant aberrations in addition to those identified by conventional techniques, and therefore it seems to be a promising test for routine cytogenomic diagnostics.

Funding: FK20_134253 BO/00125/22 ÚNKP-22-5-SE-7 TKP2021-EGA-24 TKP2021-NVA-15 Richter Gedeon Talentum Foundation

University and Doctoral School

Semmelweis University, Doctoral School of Pathological Sciences

Supervisor

Prof. Dr. Csaba Bödör, Dr. Donát Alpár

Publication of my abstract

I give consent to the publication of my abstract on the website of the congress.

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

7126

Start

11:18

End

11:23

Authors (legacy)

Anna Bekő1, Katalin Csonka1, Bettina Aranka Bohusné Barta1, Lajos Hegyi1, Donát Alpár1, Csaba Bödör1

1HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology
and Experimental Cancer Research, Semmelweis University, Budapest