New test for chronic blood cancers

Micrograph of a plasmacytoma, a hematological malignancy. Credit: Nephron

(Medical Xpress)—A new test for blood cancers will catch many more cases than the present test that identifies only 60 per cent.

A simple will soon be able to catch the vast majority of a group of chronic blood cancers, a new study reveals. Although around 60 per cent of cases can be identified with the current blood test, scientists did not know what caused the other cases and therefore could not test for it. Cambridge researchers have now identified a new cancer gene which accounts for the other 40 per cent of these chronic blood cancers. The research was published today, 10 December, in the New England Journal of Medicine.

Professor Tony Green, from the University of Cambridge's Cambridge Institute for Medical Research and Department of Haematology, who led the research said: "Diagnosing these chronic blood cancers is currently difficult and requires multiple tests, some of which are invasive and painful. Now, most patients with a suspected will be able to be given a diagnosis after a simple blood test."

This group of chronic blood cancers – which affect an estimated 30,000 people annually in the UK – cause the over-production of and platelets. These changes result in an increased incidence of which can be devastating when strokes or heart attacks occur. Although many patients can live for years with few or no symptoms, in some patients the disorders can become more aggressive with time and may even develop into acute leukaemia.

In 2005 scientists identified the JAK2 gene, mutationt in which are associated with around 60 per cent of blood cell disorders. Based on these findings a blood test was developed which transformed the way these blood disorders are diagnosed. Unfortunately, because the gene was only found in a little over half of people with chronic blood cancers, individuals who tested negative for the JAK2 gene would then have to undergo a battery of protracted, invasive testing to determine if they indeed had one of these disorders.

In the new study, led by the University of Cambridge and the Wellcome Trust Sanger Institute and supported by Leukaemia & Lymphoma Research together with the Kay Kendall Leukaemia Fund, scientists identified a new gene, CALR, which is altered in the other 40 per cent of blood disorders. For the research, the scientists sequenced the DNA of patients with chronic . By analysing the DNA sequence, they were able to identify CALR as a new cancer gene which, when mutated, results in chronic blood cancers. Additionally, they found that patients with the CALR mutation – unlike those with the JAK2 mutation – had higher platelet counts and lower haemoglobin levels.

Peter Campbell from the Sanger Institute, who co-led the research, said: "There is now a sense of completeness with these disorders – the vast majority of our can now have a definitive genetic diagnosis made. In the next year or two, we will see these genetic technologies increasingly used in the diagnosis of all cancers, especially blood cancers."

Dr Jyoti Nangalia co-first author of the study from the University of Cambridge said: "Not only will the identification of CALR lead to a new, less invasive test, we also hope that it can lead to new treatments – just as the discovery of JAK2 did. The CALR gene is involved in a cell function – aiding with the folding of proteins made by the cell - which has not implicated in these disorders before, so our research raises as many questions as it answers."

Related Stories

ASH: CALR mutations ID'd in myeloproliferative neoplasms

Dec 10, 2013

(HealthDay)—Many patients with myeloproliferative neoplasms without mutations in the Janus kinase 2 gene (JAK2) or in the thrombopoietin receptor gene (MPL) have mutations in the CALR gene encoding calret ...

Scientists uncover gene associated with blood cancers

Sep 26, 2011

A genomic study of chronic blood cancer - a precursor to leukaemia - has discovered gene mutations that could enable diagnosis using only a blood test, avoiding the need for an invasive and painful bone marrow biopsy.

Blood test reveals skin cancer spread

Nov 04, 2013

A simple blood test could be used to identify patients whose melanoma – the most serious form of skin cancer – has started to spread to other parts of the body, according to research presented at the ...

Recommended for you

Cancer patients need anxiety, depression screening

10 hours ago

(HealthDay)—It is important to recognize and treat anxiety or depression among cancer patients, according to a clinical guideline published online April 14 in the Journal of Clinical Oncology.

Pre-HPV vaccine, most oropharyngeal cancers HPV+

12 hours ago

(HealthDay)—Most oropharyngeal cancers in the United States diagnosed between 1995 and 2005 were positive for human papillomavirus (HPV), specifically HPV 16 or 18, according to a study published in the May issue of the ...

'Dustman' protein helps bin cancer cells

Apr 21, 2014

Cancer researchers have discovered a new 'dustman' role for a molecule that helps a drug kill cancer cells according to a study, published in the journal Proceedings of the National Academy of Sciences (PNAS) ...

User comments