Completion of the first genomic map of the most common leukemia

An international team of researchers, coordinated with a Spanish presence, has taken a giant step in understanding the most common leukemia. They completed the genomic map of the chronic lymphocytic leukemia (CLL)a breakthrough that can help advance more accurate diagnosis, prognosis and treatment for your patients.

The work, which was published in the prestigious ‘Nature Genetics’, was coordinated by the Idibaps-Hospital Clínic in collaboration with the universities of Barcelona and Oviedo; in the United States (the Dana-Farber cancer institute, the Broad Institute and Harvard University) and the University of Ulm in Germany. The decision to unite the efforts of various research groups in order to have more biological and statistical power was the key to this discovery.

CLL, which is the most common leukemia in the Western world, is characterized by an increase B cells that can be detected accidentally during a routine scan. It can grow slowly, with a good prognosis and without the need for treatment or, on the contrary, it can be rapid and aggressive. Hence the importance of discovering new genes involved in this disease.

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“We have identified as a disease a book where we can see that only two changed letters can confuse the functioning of a cell”

Field of Elijah

Co-lead author of the study and researcher at IDIBAPS

Dr. Elías Campo, co-lead author of the study and head of the molecular pathology of lymphoid neoplasms group at Idibaps, explains to ABC that the identified genomic map is “like a book disease where we see that only two changed letters can disrupt the functioning of a cell”. For four years, the researchers “read” the books of 1,148 CLL patients to learn more about their genome and thus understand more details about an “extraordinarily heterogeneous disease that results in many different alterations”, notes Campo.


were first associated with chronic lymphatic leukemia

From there, gene expression patterns, molecular alterations and chemical modifications were observed which until then, due to the absence of similar sequences, had not been considered remarkable, but were instead considered as exceptional or inexplicable cases. From the pooling of so many cases, it was possible to identify 202 genes109 of which had not been linked to this disease and of which we now know that when mutated they can lead to its appearance and progression.

So far, Campo explains, the causes of 15-20% of CLL were unknown because the information was hidden enough to identify it, but with the pooling of cases, they were able to corroborate mutations that affect “virtually all patients with this type of leukemia,” Campo points out. Thanks to this, moreover, it can now be easier to detect early whether a prognosis is mild or severe.

Determined eight groups at risk of the disease

All of this has also made it possible to determine a categorization of the disease, which can be of great value both in predicting prognoses and in defining treatments. The researchers set eight risk groups, which they believe can be helpful in coping with the disease in a more personalized way.

Another key element of this progress, the researchers have developed bioinformatics tools to “read” pages of the genome that were previously intelligible because of their complexity. Among them, it is also worth mentioning the start of a interactive web portal open to the scientific community so that the information discovered can be used by others and can also be expanded.

The researchers note that these new data can help predict the likelihood that a patient will have indolent disease, may experience remission after treatment, or have aggressive leukemia requiring other therapies. “Now we have has gained potency at the time of diagnosis, but the disease continues and we must continue to study its course and its treatment, “explains Campo.

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