The methods of diagnostics, which were used until now, were incomplete and in a number of patients a deteriorated prognosis of the disease could not be found in time.Experts from the Faculty of Medicine, Masaryk University (LF MU) have managed to push an important recommendation forward on an international level for a new procedure in establishing a prognosis of chronic lymphocytic leukemia.
The methods of diagnostics, which were used until now, were incomplete and in a number of patients a deteriorated prognosis of the disease could not be found in time - doctors were not able to recognize it. Scientists from LF MU, who have been working with this method to increase the chances of revealing patients with a dangerous form of the disease for many years, are now helping to extend it into practice in other countries as well.
The discovery concerns the clarification of the importance of mutations of antionkogene TP53. This gene codes protein that protects cells from their possible transformation into tumourous cells. So far the doctors have been focusing only on the presence or absence of the TP53 gene (chromosomal deletion17) in diagnostics. Many doctors have not been taking into account the fact that a mutation of the T53 gene can also be characteristic in patients with chronic lymphatic leukemia who respond to therapy badly. And it is these patients with some types of mutation of the TP53 gene who have the worst prognosis of the disease and respond to therapy very poorly.
“So far the experts have only been monitoring whether the TP53 gene is missing completely. That meant a poor prognosis of the disease and the necessity of early therapeutic intervention. However, in the past years we have been pointing out that not only the absence of the TP53 gene is significant, but also its mutation.” explains Šárka Pospíšilová, the Head of the Centre of Molecular Biology and Gene Therapy, Department of Internal Medicine, Hematology and Oncology, Faculty of Medicine, MU and the Centre of Molecular Medicine, CEITEC, Masaryk University.
This is why Czech scientists initiated the establishment of an all-European research group which confirmed these findings and, together with experts from Germany, Great Britain and others, drew up pan-European recommendations for doctors on how, when and with what methods to analyze mutations in the TP53 gene in patients with chronic lymphocytic leukemia. These recommendations have been compiled with the cooperation of the European Leukemia Net and its workgroup ERIC (European Research Initiative on CLL), which associates representatives of more than twenty countries including the United States.
Experts from the Masaryk University together with other European experts have published the results in the prestigious journal Leukemia. This way, clinics all around the world have clear instructions how to examine chronic lymphocytic leukemia, how to define the subgroup of patients with the worst prognosis and what treatment to prescribe to the affected people.