Genomic Profiling and Monitoring in Acute Myeloid Leukaemia using Plasma cell-free DNA

Hun Chuah

doi:10.26182/j36b-f552

Genomic Profiling and Monitoring in Acute Myeloid Leukaemia using Plasma cell-free DNA

Hun Chuah

UWA Medical School

Research output: Thesis › Doctoral Thesis

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Abstract

This study examined the suitability of cell-free DNA (cfDNA) (urine and plasma) for molecular assessment of Acute Myeloid Leukaemia (AML). Plasma cfDNA was found to be the optimal sample and was used to analyse mutations and fractional burden in blood from adult patients with AML. Plasma cfDNA levels correlated with the current gold standard (i.e. bone marrow) to a limit of 0.11%. cfDNA accurately reflected the mutational burden changes seen in response to therapy and outcome (i.e. remission, refractory disease, relapse). Plasma cfDNA is minimally invasive and suitable for regular assessment of leukaemic burden at levels that are clinical significant.

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	The University of Western Australia
Supervisors/Advisors	Erber, Wendy, Supervisor Guo, Belinda, Supervisor Leahy, Michael, Supervisor Allcock, Richard, Supervisor
Thesis sponsors	Australian Government Research Training Program
Award date	7 Jun 2022
DOIs	https://doi.org/10.26182/j36b-f552
Publication status	Unpublished - 2022

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10.26182/j36b-f552

THESIS - DOCTOR OF PHILOSOPHY - CHUAH, Hun Sheng - 2022
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Cite this

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abstract = "This study examined the suitability of cell-free DNA (cfDNA) (urine and plasma) for molecular assessment of Acute Myeloid Leukaemia (AML). Plasma cfDNA was found to be the optimal sample and was used to analyse mutations and fractional burden in blood from adult patients with AML. Plasma cfDNA levels correlated with the current gold standard (i.e. bone marrow) to a limit of 0.11%. cfDNA accurately reflected the mutational burden changes seen in response to therapy and outcome (i.e. remission, refractory disease, relapse). Plasma cfDNA is minimally invasive and suitable for regular assessment of leukaemic burden at levels that are clinical significant.",

keywords = "Acute Myeloid Leukaemia, circulating tumour DNA, plasma cell-free DNA, urine cell-free DNA, Minimal Residual Disease, Next Generation Sequencing, Unique Molecular Identifier",

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AB - This study examined the suitability of cell-free DNA (cfDNA) (urine and plasma) for molecular assessment of Acute Myeloid Leukaemia (AML). Plasma cfDNA was found to be the optimal sample and was used to analyse mutations and fractional burden in blood from adult patients with AML. Plasma cfDNA levels correlated with the current gold standard (i.e. bone marrow) to a limit of 0.11%. cfDNA accurately reflected the mutational burden changes seen in response to therapy and outcome (i.e. remission, refractory disease, relapse). Plasma cfDNA is minimally invasive and suitable for regular assessment of leukaemic burden at levels that are clinical significant.

KW - Acute Myeloid Leukaemia

KW - circulating tumour DNA

KW - plasma cell-free DNA

KW - urine cell-free DNA

KW - Minimal Residual Disease

KW - Next Generation Sequencing

KW - Unique Molecular Identifier

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DO - 10.26182/j36b-f552

M3 - Doctoral Thesis

ER -

Genomic Profiling and Monitoring in Acute Myeloid Leukaemia using Plasma cell-free DNA

Abstract

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