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Clonal evolution at first sight: a combined visualization of diverse diagnostic methods improves understanding of leukemic progression

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...

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Main Authors: Sandmann, Sarah (Author) , Behrens, Yvonne Lisa (Author) , Davenport, Claudia (Author) , Thol, Felicitas (Author) , Heuser, Michael (Author) , Dörfel, Daniela (Author) , Löhr, Friederike (Author) , Castrup, Agnes (Author) , Steinemann, Doris (Author) , Varghese, Julian (Author) , Schlegelberger, Brigitte (Author) , Dugas, Martin (Author) , Göhring, Gudrun (Author)
Format: Article (Journal)
Language:English
Published: 08 July 2022
In: Frontiers in oncology
Year: 2022, Volume: 12, Pages: 1-11
ISSN:2234-943X
DOI:10.3389/fonc.2022.888114
Online Access:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.3389/fonc.2022.888114
Verlag, lizenzpflichtig, Volltext: https://www.frontiersin.org/articles/10.3389/fonc.2022.888114
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Author Notes:Sarah Sandmann, Yvonne Lisa Behrens, Claudia Davenport, Felicitas Thol, Michael Heuser, Daniela Dörfel, Friederike Löhr, Agnes Castrup, Doris Steinemann, Julian Varghese, Brigitte Schlegelberger, Martin Dugas and Gudrun Göhring
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Summary: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.
Item Description:Gesehen am 21.11.2022
Physical Description:Online Resource
ISSN:2234-943X
DOI:10.3389/fonc.2022.888114

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