Blood cancers, such as leukemia and lymphomas, are among the top ten causes of death from cancer in Italy. Over the years, research has made it possible to achieve important goals that today make it possible to cure a large part of these diseases. Although the causes of blood cancer are not entirely clear, it is certainly the role of genetic factors, with alterations in DNA, and environmental factors.

As Professor Matteo Della Porta, Head of the Leukemia and Myelodisplasia Section at Humanitas explains: “It is essential to use this knowledge on the genetic basis of blood diseases in order to improve the definition of the diagnosis and prognosis of patients and to develop innovative treatments that are increasingly effective. In this sense, personalized medicine is a reality in hematology: the personalization of treatment for each individual patient translates into a concrete benefit for the patient himself, with greater survival and a better quality of life.


Substantial progress thanks to genomic analysis

“Blood cancers represent an ideal context for the implementation of personalized medical programs. One thinks, for example, of chronic myeloid leukemia, in which the discovery of the genetic defect (BCR/ABL1 fusion gene) has allowed great progress in the diagnosis, treatment and monitoring of the disease. In recent years, the availability of new technologies for genomic analysis (next-generation sequencing, NGS) has allowed the realization of high-sensitivity screening of mutations in many other blood diseases.

Acute myeloid leukemia affects about 3000 people every year in Italy, and thus represents a growing problem for the general population, to be contrasted with innovative strategies in the health field. These diseases are characterized by the uncontrolled proliferation, within the blood and bone marrow, by immature cells belonging to the hematopoietic system. It has long been known that these diseases are extremely heterogeneous and therefore vary from patient to patient, both in terms of prognosis and sensitivity to treatment. Thanks to the latest molecular biology studies, it has been possible to identify the genetic bases of the different clinical behavior of the various types of leukemia.

The study of the molecular anomalies present in each patient is therefore of growing importance and makes it possible to define the individual prognosis much more precisely (than can be done based only on clinical criteria), and above all allows you to choose the best possible treatment, from a personalized medical point of view,” continued Prof. Della Porta.


A new certified test for the study of the genome in leukemia

“We now have a diagnostic test (Rapid Myelod Panel) that can provide information on the presence of mutations in the 30 genes most relevant for prognosis and choice of treatment in acute leukemia. The test is performed on peripheral blood (and therefore is not invasive, as if it were a routine blood test) and is rapid: the results are in fact available in about 7 days. Getting results quickly is essential because it allows the specialist to know quickly and with high precision the genetic alterations of the individual patient and in light of these set the most appropriate course of treatment, evaluating which drugs to use and what are the possibilities of effectiveness of treatment.

This is fundamental information: the genetic alterations of the disease in fact determine its aggressiveness, prognosis and response to treatment and having this information quickly allows you to choose how to act quickly, given that the early stages of treatment of leukemia are very sensitive and essential to ensure the highest likelihood of successful treatment for our patients,” said Professor Della Porta.


In Humanitas, a certified platform for the study of the genome

“The project was born through a collaboration with Harvard University, led by Dr. Marianna Rossi, hematology specialist in Humanitas, and a partnership with Sophia Genetics that has allowed us to transfer into clinical practice an extremely sensitive technology, able to characterize the tumor genome in patients with new diagnosis of acute leukemia. At Humanitas, we have a platform based on next-generation sequencing, certified throughout the entire process (from DNA extraction to the identification of individual alterations and their interpretation) so as to guarantee high quality and reproducibility, which are extremely important requirements for the clinical use of the results. The introduction of this new diagnostic tool will significantly improve the clinical management of patients affected by these complex diseases.

Finally, it is worth noting that recently the LEAs (Essential Levels of Public Health Care) have recognized the clinical usefulness of the search for mutations using new generation sequencing techniques for blood diseases and Humanitas has taken up the challenge of rapidly creating a certified high technology platform to be able to use in clinical practice the information resulting from the study of the leukemic tumor genome. This is a concrete example of how research efforts can effectively fall into daily clinical practice,” concluded Prof. Della Porta.