Journal article

Molecular disease monitoring using circulating tumor DNA in myelodysplastic syndromes

Paul Yeh, Michael Dickinson, Sarah Ftouni, Tane Hunter, Devbarna Sinha, Stephen Q Wong, Rishu Agarwal, Ravikiran Vedururu, Kenneth Doig, Chun Yew Fong, Piers Blombery, David Westerman, Mark A Dawson, Sarah-Jane Dawson

BLOOD | AMER SOC HEMATOLOGY | Published : 2017


The diagnosis and monitoring of myelodysplastic syndromes (MDSs) are highly reliant on 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..

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Awarded by National Health and Medical Research Council of Australia

Awarded by National Breast Cancer Foundation

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.