by Vera Martinella
The new system, the result of a study coordinated by Italian researchers, includes gender and age in calculating the risk of serious illness among patients, almost all of whom are anemic
Every year about three thousand people over 70 in Italy are affected by myelodysplastic syndrome, a blood cancer characterized by anemia which can evolve over time into a more serious disease, acute myeloid leukemia. Who is likely to have a more aggressive shape? Which more or less intense therapies to start and when? The answer comes from a new personalized medicine algorithm that calculates the risk of disease progression taking into account the patient’s sex and age, developed by a group of researchers led by Matteo Della Porta, head of the Leukemia and Myelodysplasia Unit at the IRCCS Humanitas Clinical Institute of Milan. According to the results of a study, coordinated by Humanitas within the European consortium GenoMed4All (funded by the Horizon 2020 programme) and just published in the Lancet Hematology journal
gender, and age are key factors in the prognosis of myelodysplastic syndromes.
What are
In particular, being male and over sixty would be correlated to greater severity of anemia symptoms, shorter life expectancy and the need for earlier treatments than female subjects with the same disease explains Della Porta, professor at Humanitas University . Myelodysplastic syndromes (also called myelodysplasias) are a diverse group of blood disorders caused by damage to bone marrow stem cells that fail to produce an adequate amount of functional blood cells. This leads to a shortage of white blood cells, red blood cells and/or platelets. Thus, in a percentage of cases, myelodysplastic syndromes transform over time into acute myeloid leukemia. They are little known, but on the increase and will grow even more in the coming years because they predominantly affect the elderly and in Italy the general aging of the population is now an established fact. Often, in the initial stage there are no obvious symptoms and the disease is therefore diagnosed late, or accidentally thanks to blood tests done for other reasons. But, if discovered in time, it can be countered (there are many new therapies available) and prevent it from evolving into leukemia.
Watch out for these symptoms
The most relevant symptoms that appear at the onset of the disease are anemia (present in all patients, and which causes tiredness, lack of physical resistance, tachycardia and leg cramps), thrombocytopenia (which can cause bleeding) and leukopenia (which can cause recurring infections) – clarifies the expert -. In the more advanced stages, the disease affects the functionality of various organs (heart and circulatory system in primis, as a result of severe anemia), generating further complications that reduce the life expectancy of patients. Clinically they are extremely heterogeneous pathologies: they range from patients who have the same life expectancy as the general population of the same age, to cases which, on the other hand, have a very rapid evolution into acute leukemia within a few months. This is why it is very important to understand who has a more aggressive pathology, in order to set up the best therapy, prolong the survival of the sick and improve their quality of life.
Differences between males and females
The new research, which collected and retrospectively analyzed the largest number of myelodysplasia cases available to date (over 13,000) thanks to artificial intelligence and a gender medicine approach, demonstrates that the biological behavior of the disease, and therefore the prognosis and treatment, they are not only influenced by the clinical aspects, but also by the sex and age of the patient. The results indicate that gender influences disease expression in three aspects: biology, prognosis and treatment. As far as biology is concerned, the DNA mutations underlying the disease are different in males and females – explains Della Porta, scientific coordinator of the study also carried out thanks to AIRC and funding from the Ministry of Health -. This observation also affects symptoms and clinical evolution, which depend on the type of DNA alterations: symptoms such as anemia are more severe in men precisely because of the type of mutations characteristic of the male sex. The prognosis differs, with significantly lower life expectancy for males than females. Anemia therapies also need to be managed differently, because males tend to have negative consequences on quality and life expectancy with higher levels of hemoglobin and red blood cells. This is particularly evident on the risk of cardiovascular complications, which are much more frequent in men and are more heavily affected by the lack of oxygen resulting from anemia.
The new algorithm
Artificial intelligence (AI) has been fundamental for analyzing the data in depth and thanks to the collaboration with the data scientists of the Humanitas AI Center, the researchers have created algorithms capable of implementing, on the single patient, two innovative prognostic models for the syndromes myelodysplastics including age and gender. By entering patient data in a online platform, the doctor can now obtain a more accurate prognosis for each individual patient. The prognosis calculated with the new mathematical model is compared with traditional systems (International Prognostic Scoring System-IPSS-R), which only use parameters related to the disease. Our hope that these scientific results, together with the creation of the platform, can help doctors in making decisions regarding patients with myelodysplastic syndrome, making it easier to apply gender and precision medicine approaches also in hematology concludes Giulia Maggioni, resident in Hematology from Humanitas University and first author of the study in Lancet Hematology.
July 10, 2023 (change July 10, 2023 | 07:45)
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