Scientists find gene link to blood cancers

People at risk of developing blood cancers could be identified more quickly thanks to the discovery of a new type of inherited gene defect.

Researchers from South Australia have identified the genetic mutations which predispose some people to developing myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML).

The mutations are in the GATA2 gene, which regulates the activity of many genes involved in the development of white blood cells.

"This is a very important breakthrough as far as familial blood cancers are concerned," Professor Hamish Scott, of the Centre for Cancer Biology at SA Pathology, said.

"The discovery of this gene means that people at very high risk of developing the disease can be identified, monitored and treated a lot earlier than before.

"This has dramatically improved survival in at risk patients with inherited predispositions for solid tumours such as colon, breast and ovarian cancer, and we expect something similar for these at risk individuals."

Both MDS and AML affect the blood and bone marrow.

AML is the most common acute leukaemia affecting adults and can be fatal within weeks or months if not diagnosed early.

Patients with MDS, a diverse collection of blood-related conditions affecting the production of the myeloid class of blood cells, often develop severe anaemia and require frequent blood transfusions.

In about one third of patients the disease transforms into AML.

General manager of research and advocacy at the Leukaemia Foundation Anna Williamson said the genetic discovery would help save lives.

"The ambiguous symptoms of blood cancers means that most patients are not diagnosed until it is a medical emergency," she said.

"Identifying predisposition will save lives."

Genetic tests are available to determine if someone's family carries the GATA2 error.

A clinical trial is underway in the United States in the hope it can identify treatment recommendations.