Predicting malignant transformation of Bone Marrow Failure Syndromes using longitudinal targeted sequencing of peripheral blood and cell-free DNA (cfDNA).

2018-2020 (Grant-in-Aid): Predicting malignant transformation of Bone Marrow Failure Syndromes using longitudinal targeted sequencing of peripheral blood and cell-free DNA (cfDNA). Associate Professor Piers Blombery, Peter MacCallum Cancer Centre.

Aplastic Anaemia occurs when the body stops producing enough new blood cells. Some of these patients may respond to immunosuppressive therapy or bone marrow transplant, and some may progress to malignancy (myelodysplasia and/or acute myeloid leukaemia). Given this range of outcomes, any additional understanding may assist in clinical decision-making and may improve patient outcomes.

This study collects repeated small samples of blood from patients over time as part of a new tool to track accumulation of genomic mutations found in the blood. The technique takes advantage of the presence of cell free DNA in the blood, as a source for mutation testing, instead of traditional time-consuming and painful bone marrow collection. This new patient monitoring technique has already been used to track progress and potential mutation changes in 21 patients to date with over 100 tests performed. The potential impact of these studies on new techniques for monitoring Aplastic Anaemia patient progression may mean less painful, time-consuming bone marrow collection and more up-to-date disease information benefiting both clinician and patient.