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Acute myeloid leukemia, when to (re) do the genomic test

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Acute myeloid leukemia is a ‘mutating’ tumor. It happens in nearly half of patients who have a relapse: the disease that reappears after regression has a mutation in the FLT3 gene. This same mutation is present in only one third of cases at the time of the first diagnosis. This is important information from a practical point of view, because it means that for a large group of patients it is essential, at the time of relapse, to carry out a new genomic test to immediately initiate treatment with targeted therapies.

Three thousand people every year

This blood cancer (AML) affects over 3,000 people in Italy every year and represents the model par excellence of personalized medicine. However, a cultural and organizational change is necessary. This was discussed during a webinar organized within the HEMA NET Project of Isheo (Integrated Solutions of Health Economics and Organizations), carried out in collaboration with the Haematological Neoplasms della Favo Group (Federation of voluntary associations in oncology) and with the unconditional contribution by Astellas Pharma SpA

The aim of the project is to raise awareness on the possibilities of treatment for patients with acute myeloid leukemia, on the importance of carrying out targeted and timely screening to ensure adequate management in those with the FLT3 gene mutation. Without forgetting the importance of integrated care, psychological support and services useful to facilitate maintenance and follow-up.

Test and re-test

At the center of the debate is the characterization at the molecular level, through genetic tests and “retests”, to allow patients to access target therapies, without forgetting psychological support as a service necessary to deal with the disease. “Not all patients are followed in the large Hub centers, so it is important to carefully observe the critical issues of access and make the appropriate treatments available to everyone and at the right times”, explains Davide Petruzzelli, Coordinator of FAVO Hematological Neoplasms Group and President of La Lamp by Aladino Onlus: “Furthermore, if we really want to talk about personalized therapy, it is necessary to take charge of the person and not only of the disease, a new model that takes into account not only the clinical dimension, but also social and psychological needs” .

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Psychological support

The cancer patient’s journey begins already in the pre-diagnostic moment, when the family doctor initiates the patient for in-depth analyzes or refers him to a specialist: “The patient begins at that moment to develop states of anxiety and distress, which will change during the different phases of the therapeutic path, but which are always present in the life of the patient who acts, reacts and lives with the disease according to their defense mechanisms, coping styles and personality structure “, explains Rossella Memoli, psycho-oncologist at the SANeS Association: “The psychologist’s tasks are manifold: facilitate communication between patient and family, between patient and social network, redefine the development of adaptive models of the patient to the disease, encourage the patient to express his emotional experiences, his emotions, often withheld “.

For a timely diagnosis

There are other critical issues along the way. In fact, it is important that acute myeloid leukemia is recognized as soon as possible and that an appropriate therapy is taken promptly: “The medical profession, from the family doctor to the medical staff in the emergency room, must be trained in the rapid recognition of the haematological emergency and oncological “, says Giovanni Martinelli, Scientific Director of the Romagnolo Institute for the Study of Tumors ‘Dino Amadori’ – IRST IRCCS, Meldola (FC):ā€œ We therefore need an educational action to recognize haematological pathology. The therapeutic deficit inevitably translates into an aggravation of the health system in treating the patient who is not identified and treated adequately “.

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In the meantime, research is advancing and making care more and more personalized, thanks also to new technologies. “It is necessary to encourage innovation in access to therapies and in the ways in which the patient must receive them – concludes Giuseppe Maduri, CEO Astellas Pharma SpA – and a strong public-private partnership is also needed to respond to the health demands of patients and , at the same time, to the needs of public health to have the necessary resources to ensure the sustainability of the national and regional health system “.

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