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06 April 2017


Scientists have linked cancer-causing genes to a rare disease of white blood cells, providing new insights into its nature.

Because of the findings, researchers at the National Human Genome Research Institute (NHGRI), USA, believe that people diagnosed with Erdheim-Chester disease (ECD), which affects about 600 people globally, should be considered a cancer.

Dr Juvianee I. Estrada-Veras, of NHGRI's Medical Biochemical Genetics Residency Program, said: 'The discovery of new genes associated with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also hope it will help us identify new treatments.

'Our work on ECD builds on the institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common disorders.'

ECD has no standard therapy options. The disease is caused by the accumulation of histiocytes in different organs, causing inflammation and tissue and organ damage.

The research team examined 60 adults with ECD at the NIH Clinic Centre between 2011 and 2015, they have reported in Blood Advances.

A total of 59 samples were available for molecular testing and it was found that half had BRAF V600E gene mutations, which is sometimes seen in colon cancer, lung cancer, thyroid cancer, brain tumours and some blood cancers.

Other patients had mutations in genes of the MAPK pathway, which controls cell growth and proliferation.

The most common treatment for ECD has been interferon, but researchers say vemurafenib, dabrafenib and trametinib, which are therapies that stop the growth and proliferation of cells by blocking the MAPK pathway, could be more beneficial.

Source: The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Advances 14 February 2017

Link: http://www.bloodadvances.org/content/1/6/357


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