Humanitas opens a multidisciplinary center for patients diagnosed with acute and chronic leukemia to determine their genetic predisposition to the disease. This assessment will constitute a crucial element in patient care and play a vital role in risk evaluation for healthy family members. The center is a concrete example of how research can bring benefits to daily clinical practice.
Rozzano, 7 September 2020 – An important step in offering the best opportunities for diagnosis and treatment to patients with leukemia, improving therapies, doses and, above all, access to bone marrow transplantation, which today represents the only definitive cure for the disease. With these objectives, Humanitas has launched the first center in Italy for the study of genetic predisposition to acute and chronic leukemia, in which geneticists, hematologists, molecular biologists and dermatologists work together to achieve a 360 ° patient management.
Significant scientific evidence recorded in the last 5 years, in fact, has shown that hereditary gene mutations, i.e. those present from birth, until recently considered extremely rare in leukemia, are in fact present in up to 10-15% of cases (especially in young patients, under the age of 50). This led the World Health Organization to define a new clinical category called “leukemia associated with hereditary genetic predisposition” in 2016.
“The identification of a hereditary mutation associated with leukemic predisposition in an affected patient has an important impact on the choice of the donor for the stem cell transplant, since in this case a transplant from a family member is to be excluded – explains Dr. Matteo Della Porta, head of the Humanitas Leukemia and Myelodysplasia sub-unit and professor at Humanitas University -. It becomes therefore important to carefully discuss with healthy family members the possibility of undergoing genetic screening to assess the individual risk profile for developing leukemia, which is higher in individuals with the mutation than in the general population “.
From research to clinical practice
The opening of this Center represents a concrete example of how research efforts can effectively permeate into daily clinical practice for the benefit of the patient.
“Humanitas was the first hospital in Italy to study the leukemic genome and the genetic predisposition to leukemia in daily clinical practice, transferring a research project to clinical care – continues Della Porta -. The project was funded by the Italian Ministry of Health and the Beat Leukemia Foundation for the development of new diagnostic technologies in blood cancers, also thanks to Artificial Intelligence. Today we are proud to take a further step forward, from research to clinical practice, with this multidisciplinary center, unique in Italy, where geneticists, hematologists, molecular biologists and dermatologists work side by side. The center has all key specializations for a 360 ° management of patients with leukemia “.
The patient’s journey starts with an informative meeting on the test to perform and on the possible implications of the results regarding leukemia therapy. The test is then performed in a completely non-invasive manner, on samples of venous blood and skin cells.
Eight weeks following the test, the patient is invited for a follow-up appointment to discuss with the specialists – a hematologist and a geneticist – the results of the test and the implications for the patient and, possibly, for his/her family members.
The main goal is prevention, also with the help of AI
The researchers note that the study of leukemic transformation mechanisms of stem cells in genetic-dependent cases will be crucial for the development of prevention strategies and programs.
“Acute and chronic leukemia with a genetic basis represent the reference model for the study of predisposition to blood cancers. The percentage of genetic mutations associated with the development of leukemia could be greater than the 10-15% of cases, as is known to date. For this reason, it is necessary to develop diagnostic techniques that, also thanks to Artificial Intelligence, allow to broaden our knowledge in this sector “- concludes Professor Matteo Della Porta.
Acute and chronic leukemia
Acute and chronic leukemia are a heterogeneous group of hematological cancers, more frequent in the elderly population, which originate from the stem cells of the bone marrow (the cells that give rise to red blood cells, white blood cells and platelets in the blood). They include acute myeloid leukemia, myelodysplastic syndromes and chronic myeloproliferative neoplasms. They originate through mutations (i.e. modifications of the DNA sequence of cells) which in most patients, especially elderly ones, arise due to the aging process of the stem cells themselves. Forty percent of the genetic predisposition occurs in the elderly age group, where a spontaneous development of the disease is expected.