Clonal Evolution at First Sight: A Combined Visualization of Diverse Diagnostic Methods Improves Understanding of Leukemic Progression

Author:

Sandmann Sarah,Behrens Yvonne Lisa,Davenport Claudia,Thol Felicitas,Heuser Michael,Dörfel Daniela,Löhr Friederike,Castrup Agnes,Steinemann Doris,Varghese Julian,Schlegelberger Brigitte,Dugas Martin,Göhring Gudrun

Abstract

Patients with myeloid neoplasia are classified by the WHO classification systems. Besides clinical and hematological criteria, cytogenetic and molecular genetic alterations highly impact treatment stratification. In routine diagnostics, a combination of methods is used to decipher different types of genetic variants. Eight patients were comprehensively analyzed using karyotyping, fluorescence in situ hybridization, array-CGH and a custom NGS panel. Clonal evolution was reconstructed manually, integrating all mutational information on single nucleotide variants (SNVs), insertions and deletions (indels), structural variants and copy number variants (CNVs). To allow a correct integration, we differentiate between three scenarios: 1) CNV occurring prior to the SNV/indel, but in the same cells. 2) SNV/indel occurring prior to the CNV, but in the same cells. 3) SNV/indel and CNV existing in parallel, independent of each other. Applying this bioinformatics approach, we reconstructed clonal evolution for all patients. This generalizable approach offers the possibility to integrate various data to analyze identification of driver and passenger mutations as well as possible targets for personalized medicine approaches. Furthermore, this model can be used to identify markers to assess the minimal residual disease.

Funder

Bundesministerium für Bildung und Forschung

Publisher

Frontiers Media SA

Subject

Cancer Research,Oncology

Reference38 articles.

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Reconstructing Clonal Evolution—A Systematic Evaluation of Current Bioinformatics Approaches;International Journal of Environmental Research and Public Health;2023-03-14

2. clevRvis: visualization techniques for clonal evolution;GigaScience;2022-12-28

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