Spanish researchers have participated in theChronic Lymphocytic Leukemia Genome Sequencing, which causes an increase in the number of white blood cells that causes a progressive weakening of the immune system. Despite being one of a kindcancer of the blood and bone marrowmore frequent in western countries, the causes that provoke it are unknown. The work describes four new mutations that condition both the onset and evolution of these leukemias.
As the existence of some mutations had been detected in patients with this type of tumor, the research groups led by Elías Campo and Carlos López-Otín, in Barcelona and Oviedo respectively, decided to sequence the complete genome of 4 patients with chronic lymphocytic leukemia. The intention was to find mutations that could explain why the disease had occurred. They managed to discover up to 46 different new mutations that had never been linked to leukemia before. After this, they checked whether these new mutations also occurred in other patients. For this, they analyzed the DNA of 363 patients, thanks to which they were able to corroborate thatmutations in four different genes condition the onset and progression of this type of leukemia.
The new study, published inNature, supposesa breakthrough in explaining symptoms at the genetic levelthat doctors observe in hospitals. For example,mutations that occur in a gene called NOTCH1appear in thosepatients with more severe leukemia. In this regard, Peter Klatt, member of both the executive committee and the scientist of the Cancer Genome Project consortium, explains from the CSIC’s National Center for Biotechnology that this gene, being implicated in other types of cancer, is already on the market some drugs that fight against its oncogenic function. Now it will be necessary to test whether in combination with those currently used it improves the treatment of leukemia.
