Acute myeloid leukemia (AML) is a rare, aggressive and rapidly evolving form of blood cancer that requires timely diagnosis and highly specialized management. In Italy, over 3,500 new cases are estimated per year and the average age at diagnosis is between 68 and 70 years. In recent years, however, increasingly in-depth knowledge of the biological mechanisms that drive the disease has opened the way to innovative therapies and increasingly personalized treatment paths.
What is acute myeloid leukemia
AML begins in the bone marrow, where blood cells are produced. Due to genetic alterations, some immature cell precursors begin to proliferate uncontrollably, preventing the normal production of red blood cells, white blood cells and platelets. The disease can manifest itself with intense tiredness, anemia, frequent infections, bleeding or bruising.
"We are talking about a rare and aggressive hematological pathology that requires rapid diagnosis and immediate management by highly specialized centers" - Adriano Venditti, Full Professor of Hematology at the Tor Vergata University of Rome, explains to Health. He adds: “Early diagnosis is important to define the most appropriate therapeutic path".
The role of genetic mutations in therapeutic choices
One of the aspects that are profoundly changing the management of acute myeloid leukemia is the possibility of analyzing the genetic profile of the disease. Through specific molecular tests it is possible to identify mutations that allow us to better define the prognosis and guide therapeutic decisions.
Among these, the mutation of the FLT3 gene plays a particularly important role, present in approximately 30% of patients with acute myeloid leukemia. Its identification allows us to identify people who can benefit from targeted treatments and more personalized therapeutic strategies.
"Knowing the presence of the FLT3 mutation means better understanding the biological behavior of the disease and identifying the most effective therapeutic options for that individual patient" - underlines Professor Venditti. "It is one of the most concrete examples of personalized medicine applied to oncohematology" - he adds.
The challenge of relapsed or refractory forms
Despite the progress achieved, a significant portion of patients may experience disease recurrence or not respond adequately to initial treatments. Relapsed or refractory forms still represent one of the main clinical challenges today, especially in patients carrying the FLT3 mutation. For this reason, specialists underline the importance of repeating molecular analyzes even during the evolution of the disease. Acute myeloid leukemia, in fact, can change its genetic characteristics over time, making continuous reevaluation necessary to identify the most appropriate therapeutic strategy.
"The genetic characteristics of leukemia can change over the course of the patient's clinical history - observes Venditti - This is why molecular diagnostics is not a step to be carried out just once, but a fundamental tool throughout the entire treatment process".
Transplantation and the risk of recurrence
For some patients, allogeneic hematopoietic stem cell transplantation represents one of the most important therapeutic opportunities. However, the transplant does not necessarily coincide with the conclusion of the care process. The next phase in fact requires clinical monitoring, molecular surveillance and close collaboration between the specialist centers involved in the management of the patient. In particular, in FLT3 positive forms, the risk of relapse continues to represent a significant concern.
"The success of the transplant does not only depend on the procedure, but also on the ability to guarantee continuity of care, regular checks and timely access to maintenance strategies when necessary" - highlights Professor Venditti.
The importance of equitable access to innovation
Alongside therapeutic progress, the issue of equal access to treatment remains open. Experts highlight the need to reduce territorial differences in access to molecular tests, specialized laboratories and innovative therapeutic pathways. Timely molecular diagnosis, rapid referral to reference centers and the availability of new therapeutic options can significantly impact patients' treatment prospects.
Cystic fibrosis, when research changes the history of the disease
In the second part of the Health episode, focus on cystic fibrosis, a rare genetic disease caused by mutations in the CFTR gene and present from birth. In Italy around 6,000 people live with this pathology.
Guests of the show Carlo Castellani, Scientific Director of the Cystic Fibrosis Research Foundation and head of the Cystic Fibrosis Center of the Giannina Gaslini Institute of Genoa and Giulia Vrenna, who has lived with cystic fibrosis for some time.
"In recent decades, the organization of care and progress in research have profoundly changed the natural history of the disease" - says Castellani. He adds: "Today many people with cystic fibrosis reach adulthood, study, work and plan their future."
Drugs that modulate the CFTR protein deserve particular attention, innovative therapies that are changing the lives of many patients but which are not yet effective for all genetic mutations. In fact, approximately 30% of people with cystic fibrosis still lack a specific treatment capable of correcting the defect underlying the disease.
"The great challenge of research is to arrive at an effective treatment for everyone, without leaving anyone behind - concludes Castellani, which is why we continue to invest in the development of new therapeutic strategies, from genomic editing to personalized medicine".
An episode dedicated to two rare and very different pathologies but united by a decisive element: the role of scientific research in transforming once dramatic diagnoses into increasingly personalized and promising treatment paths.
