Breakthrough discovery offers new hope for patients with rare blood cancer

The research, published in the leading international journal Blood, focuses on treating myelofibrosis by directly targeting the abnormal blood cells that drive the disease through immunotherapy, rather than merely managing its symptoms.

Myelofibrosis disrupts the body’s ability to produce healthy blood cells, leading to chronic fatigue, pain, an enlarged spleen and a reduced quality of life. While existing treatments can help ease symptoms, they do not eliminate the underlying disease-causing cells.

The study was co-led by Professor Daniel Thomas, Director of SAHMRI’s Blood Cancer Program, and Professor Angel Lopez, Head of Human Immunology at SA Pathology, with significant contributions from Dr Denis Tvorogov of the University of Adelaide and Cancer Council SA Research Fellow Dr Chloe Thompson-Peach.

Professor Thomas said the findings mark an important step toward more precise, disease-focused treatments and represent a world-first discovery showing that Type 1 calreticulin mutations respond differently to treatment compared with Type 2 mutations.

The research team identified not one but two distinct therapeutic targets capable of optimally eliminating the abnormal cells responsible for the disease. A critical factor in the discovery was access to patient samples donated for research and stored at the South Australian Cancer Research Biobank (SACRB), supported by the Health Services Charitable Gifts Board.

“People with myelofibrosis are often treated with therapies that help control symptoms, but these treatments do not selectively target the abnormal cells driving the disease,” Professor Thomas said.

“Our findings show that by focusing on what makes these cells biologically distinct, it may be possible to develop treatments that are both more effective and more precise. This represents a major paradigm shift in the treatment of myelofibrosis and related blood disorders.”

The study underscores the promise of precision immunology — an approach that harnesses the immune system to identify and destroy disease-causing cells while largely sparing healthy tissue. The researchers found that different biological subtypes of myelofibrosis may require different targeted treatment strategies.

Professor Lopez said the work reflects a broader movement in cancer research toward more personalised and intelligent therapies.

“This research highlights the power of precision immunology, where treatments are designed to recognise disease-causing cells with extraordinary specificity while minimising damage to healthy tissue,” he said.

“The future of cancer treatment lies in understanding disease at a molecular and immune level and translating that knowledge into therapies that are potent, durable and precise.”

While the results are promising, the researchers caution that further investigation and clinical development are required before the approach can be tested in patients.

The team will now focus on advancing the research toward clinical trials, with the goal of delivering safer, more effective treatment options for people living with myelofibrosis as quickly as possible.