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Molecular disease monitoring in translocation positive tumors

Molecular disease monitoring in translocation positive tumors

The EFACT study (EWS-FLI sequence analysis in circulating tumor DNA) investigates the clinical utility of circulating tumor DNA as a plasma tumor marker in Ewing sarcoma patients.
The LiBSTiC study (Liquid Biopsies of Solid Tumors in Children) includes children and adolescents with translocation positive sarcomas and Non-Hodgkin-Lymphoma.
Quantification of circulating tumor DNA allows control of therapy response on a molecular level and aims to improve individual therapy optimization.

 

Tumor material and plasma samples are collected from each patient. After the patient-specific EWS-FLI fusion genes have been identified, plasma fusion gene copies are quantified during therapy.
Monitoring of therapy progression in a Ewing sarcoma patient by quantification of the EWS-FLI fusion sequence in circulating tumor DNA and PET-CT imaging.

Collaborations

Abbas AgaimyInstitute of Pathology
Tobias BäuerleInstitute of Radiology
Christian SchmidkonzDepartment of Nuclear Medicine
Uta DirksenUniversitätsklinikum Essen
Thomas GrünewaldDKFZ, Heidelberg
Wolfgang HartmannInstitute of Pathology, Münster
Eleni TomazouChildren’s Cancer Research Institute, Vienna

Selected publications

Assessment of treatment responses in children and adolescents with Ewing sarcoma with metabolic tumor parameters derived from 18F-FDG-PET/CT and circulating tumor DNA.
Schmidkonz C, Krumbholz M, Atzinger A, Cordes M, Goetz TI, Prante O, Ritt P, Schaefer C, Agaimy A, Hartmann W, Rössig C, Fröhlich B, Bäuerle T, Dirksen U, Kuwert T, Metzler M. Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1564-1575.

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.
Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, Marchand R, Sitter J, Gokgoz N, Brunga L, Graham GT, Fullam A, Pillay N, Toretsky JA, Yoshida A, Shibata T, Metzler M, Somers GR, Scherer SW, Flanagan AM, Campbell PJ, Schiffman JD, Shago M, Alexandrov LB, Wunder JS, Andrulis IL, Malkin D, Behjati S, Shlien A.Anderson ND, et al. Science. 2018 Aug 31;361(6405):eaam8419.

Genomic EWSR1 Fusion Sequence as Highly Sensitive and Dynamic Plasma Tumor Marker in Ewing Sarcoma.
Krumbholz M, Hellberg J, Steif B, Bäuerle T, Gillmann C, Fritscher T, Agaimy A, Frey B, Juengert J, Wardelmann E, Hartmann W, Juergens H, Dirksen U, Metzler M. Clin Cancer Res. 2016 Sep 1;22(17):4356-65