Molecular disease monitoring using circulating tumor DNA in myelodysplastic syndromes

P Yeh; M Dickinson; S Ftouni; T Hunter; D Sinha; SQ Wong; R Agarwal; R Vedururu; K Doig; CY Fong; P Blombery; D Westerman; MA Dawson; SJ Dawson

Journal article

Molecular disease monitoring using circulating tumor DNA in myelodysplastic syndromes

P Yeh, M Dickinson, S Ftouni, T Hunter, D Sinha, SQ Wong, R Agarwal, R Vedururu, K Doig, CY Fong, P Blombery, D Westerman, MA Dawson, SJ Dawson

Blood | Published : 2017

DOI: 10.1182/blood-2016-09-740308

Abstract

The diagnosis andmonitoring of myelodysplastic syndromes (MDSs) are highly relianton bone marrow morphology, which is associated with substantial interobserver variability. Although azacitidine is the mainstay of treatment in MDS, only half of all patients respond. Therefore, there is an urgent need for improved modalities for the diagnosis and monitoring of MDSs. The majority of MDS patients have either clonal somatic karyotypic abnormalities and/or gene mutations that aid in the diagnosis and can be used to monitor treatment response. Circulating cell-free DNA is primarily derived from hematopoietic cells, and we surmised that the malignant MDS genome would be a major contributor to cell-f..

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University of Melbourne Researchers

Michael Dickinson Author

Stephen Wong Author

Rishu Agarwal Author

Piers Blombery Author

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Grants

Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

This work was funded by a Senior Leukaemia Foundation Australia Fellowship and VESKI Innovation Fellowship (M.A.D.), a National Breast Cancer Foundation and Victorian Cancer Agency Fellowship (S.-J.D.). National Health and Medical Research Council of Australia grants 1128984, 1106444, and 1106447 ( M.A.D.) and 1107126 and 1104549 (S.-J.D.) partly funded this research. This work was also supported by the Klempfner Epigenetics Fellowship administered by the Snowdome Foundation and the Haematology Society of Australia and New Zealand young investigator grant (P.Y.).The clinical study patient recruitment was funded by the Victorian Cancer Agency, Celgene, and GlaxoSmithKline.