Improving diagnosis of chronic lymphocytic leukaemia

Dr Francesco Forconi

Dr Francesco Forconi is part of an international team of blood cancer experts who are aiming to improve the early diagnosis and treatment of one of the most common forms of leukaemia, with the hope of improving outcomes for patients.

Chronic lymphocytic leukaemia (CLL) is the most common type of chronic leukaemia in the western world, with around 3,800 people a year diagnosed in the UK.

The first stage of the disease is a condition known as monoclonal B cell lymphocytosis (MBL), where an individual has increased levels of white blood cells called lymphocytes circulating in their blood. This is 100 times more frequent than overt CLL, with over one in ten adults above the age of 40 diagnosed, but the condition is largely asymptomatic. However, some people with MBL will go on to develop CLL.

“MBL is the most common early cancer presentation in that age group,” says Dr Forconi. “It is a condition that can have a very big impact eventually if it progresses into CLL.”

“But currently there are no certain ways to predict which people will go on to develop CLL and potentially need treatment.”

Dr Forconi is now leading an international team of researchers and has been awarded over £2m from Cancer Research UK (CRUK) to increase our understanding of how and why MBL develops into CLL in some patients and not others.

The Early Cancer Research Initiative Network on MBL will develop unique resources and innovative tools to study the tumour B cells and immune profiles of people with MBL in the general population and CLL patients. Using a tumour biobank of blood and tissue samples, they will use phenotypic, functional and genomic data at single-cell level to build and increase understanding of how MBL progresses into CLL and predict which patients are most likely to require treatment in the future.

The majority of patients diagnosed with CLL are in their 60s and 70s, when the disease can often be managed without treatment, and around 30 per cent of patients will need some form of treatment. However, in the smaller number of younger patients the disease tends to progress more frequently and rapidly.

“This is about trying to determine who are the individuals who will become CLL patients and require treatment,” Dr Forconi continues. “A large part of our job with newly diagnosed patients is reassuring them that they may not need any treatment at all, but some people understandably find this difficult to accept after a diagnosis and need to know what risk they have to need treatment or die earlier.”

“The hope is that one day we will be in a position to offer preventative treatment to those with MBL who we identify will need it, so it doesn’t get to the stage that they become very ill with CLL.”

“Being able to precisely determine which patients need treatment early and which don’t would have massive psychological and financial impact for the people diagnosed.”

The CRUK Southampton Centre is a national centre of excellence for blood cancer research and the money from this CRUK award will fund a team of scientists and technicians to work on the project.

“This is a massive opportunity for Southampton to remain at the forefront of research for the benefit of the most common form of leukaemia, so that we can not only identify those who will develop the disease, but also potentially develop a preventative treatment for MBL patients in the future.”

“International collaboration really is key to this project. Our network brings together 14 research groups from across Europe, as well as collaborators in Africa and South America. We hope our combined knowledge and the wealth of patient data we will be able to access across the globe will further our understanding of how MBL progresses, and which patients are most at risk of developing malignant CLL.”

“Our hope is that this new knowledge could eventually lead to national screening programmes for CLL, and make sure that those people most at risk are diagnosed earlier and given the preventative treatment they need.”