Researchers have identified a new gene mutation causing treatment resistance in acute lymphoblastic leukaemia.

The findings, published in the British Journal of Haematology, provide a rationale for the use of a single genomic test to guide treatment for acute lymphoblastic leukaemia patients – identifying the full range of mutations causing therapeutic resistance at once.

A range of genomic changes contribute to leukaemia development, and those changes or ‘mutations’ are used to determine treatment options and understand an individual’s risk of developing the cancer.

Currently, multiple tests are used to diagnose acute lymphoblastic leukaemia, which is characterised by an overproduction of immature white blood cells.

Dr Georgie Ryland, Senior Research Officer in Molecular Haematology at Peter Mac and Curation Scientist at the University of Melbourne Centre for Cancer Research (UMCCR), said that while childhood acute lymphoblastic leukaemia generally has cure rates greater than 90 per cent, treatment outcomes for adults remain suboptimal.

“Only 40 per cent of adult patients will achieve long-term disease-free survival. One reason for this is that the genomic drivers of adult acute lymphoblastic leukaemia are less well understood, and the use of accredited genomic testing has been limited,” she said.

The discovery of the new gene mutation was made using whole genome sequencing through the Cancer of Unmet Need Initiative at the UMCCR.

Dr Ryland says that over the past year the group has shown that comprehensive genomics is feasible in the clinical setting, and may overcome some of the recognised limitations of conventional diagnostic approaches.

“We have used whole genome and transcriptome sequencing to identify genomic markers that will help to guide treatment choices in adults with acute lymphoblastic leukaemia, and are investigating how we can apply this complex information in a clinical setting.”

“Though a comprehensive genomic approach, we have been able to identify genomic markers and implement new ways to guide treatment choices, with the ultimate aim to improve patient outcomes.”

“We hope that the genomic testing framework established through this research collaboration can be applied to other difficult to diagnose and treat blood cancers.”

Collaboration has been vital to the discovery of these findings, with the initiative bringing together expertise in molecular haematology from Molecular Pathology at Peter MacCallum Cancer Centre, Clinical Haematology (Peter MacCallum Cancer Centre/Royal Melbourne Hospital), The Wilson Centre for Lymphoma Genomics, Victorian Comprehensive Cancer Centre Alliance Partners and genomics and health economics experts from the UMCCR.