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They are rare tumors, they affect adults and to a greater extent the elderly, they have a slow and progressive course and most of the time the diagnosis is made by chance. Thus, treatments also begin years after the onset of the disease putting those affected at risk.
This is the situation of the myeloproliferative syndromes, pathologies of different types which, together, affect many patients and their families. The National Day of AIL – Italian Association against Leukemia, Lymphoma and Myeloma – was held on the subject. Here, in summary, is what you need to know.
“Myeloproliferative neoplasms, rare tumors affecting the bone marrow such as chronic myeloid leukemia, polycythemia vera, essential thrombocythemia and myelofibrosis are indolent chronic diseases; difficult diagnoses often occur by chance, and treatments thus begin with years of delay and therefore risks for patients – explains Sergio Amadori, AIL National President -. Today, the knowledge of the genetic basis of these conditions has made it possible to develop molecules capable of specifically inhibiting the action of the genes responsible for the disease, paving the way for a new approach of treatment based on molecular diagnostics. These patients have more chances to control the disease even in the long term ”.
How myelofibrosis manifests itself
In Italy, about 2,000 people are diagnosed with a frank form of myelofibrosis, characterized by generic symptoms such as unjustified fatigue, weight loss without a clear reason and abdominal symptoms due to an increase in the volume of the spleen (splenomegaly).
“The research has made it possible to make significant progress in various areas: increasing awareness of the disease, improving diagnostic approaches using the findings of gene mutations (such as JAK2, MPL and CARL, and many others) and the development of models of risk that allow to identify the most serious cases that require stem cell transplantation – explains Alessandro Maria Vannucchi, Professor of Hematology at the University of Florence, Director of SOD Hematology of the Careggi University Hospital and Head of CRIMM Research and Innovation Center for Myeloproliferative Diseases – . It was precisely the discoveries of genes associated with the disease that favored the development of drugs, the JAK2 inhibitors of which the progenitor is ruxolitinib, and a second drug, fedratinib, was recently approved. These therapies have been shown to be able to reduce the volume of the spleen until it reaches normalization total regression of symptoms; the quality of life has greatly improved and solid scientific evidence is starting to have a favorable impact on the lengthening of life “.
How chronic myeloid leukemia is tackled
Chronic myeloid leukemia is undoubtedly a type of neoplasm in which modern onco-hematology has obtained the best therapeutic and quality of life results, and this has happened thanks to the discovery of tyrosine kinase inhibitors (TKIs).
“For chronic myeloid leukemia (CML) in the years 2009-2010 it was possible to demonstrate that patients who had a better response, minimal levels of residual disease and if this had lasted a few years, it would have been possible to stop taking the drug without the disease reappeared – informs Fabrizio Pane, Full Professor of Hematology and Director of the Hematology and Transplantation Unit AOU Federico II of Naples-. By making it become the operative healing the goal of treatment for a large number of patients “.
However, about 20% of patients remained for whom the response was unsatisfactory. “Today, a new TKI, asciminib, thanks to an innovative mechanism of action and a different structure, is able to be effective on different mutations or those that can escape first, second or third generation TKIs. The drug has shown almost double efficacy compared to a standard TKI, bosutinib, in patients resistant or intolerant to TKIs, previously treated with at least two TKIs, all with a very favorable safety profile – reports the expert “.
The secrets of polycythemia vera and essential thrombocythemia
Polycythemia vera and essential thrombocythemia are cancer stem cell diseases that are affected by a genetic mutation that generates an excess of cell proliferation: very high levels of red blood cells, white blood cells and platelets. Only in about 20% of cases there are problems of both arterial and venous thrombosis, especially in polycythemia vera, stroke, myocardial infarction, thrombosis in the peripheral arteries.
“The therapy of essential thrombocythemia and true polycythemia must take into account the vascular risk factors that each patient can document – informs Tiziano Barbui, Chief Emeritus of Clinical Hematology and Scientific Director of FROM – Foundation for Research Hospital of Bergamo. There risk definition it is based on a “score” for both essential thrombocythemia and polycythemia vera to which the genetics of these diseases (JAK2, CALR and MPL mutations) contribute significantly. The risk of a patient with essential thrombocythemia who does not have the JAK2 mutation is different from those who have it. Or if it mutated for calreticulin or MPL. There are basically three drugs to control the increased proliferation of bone marrow progenitor cells: the standard is hydroxyurea, the new drugs are interferon and JAK2 inhibitors. Today, the latter are not indicated in essential thrombocythemia (except in exceptional cases), but only in cases of polycythemia vera that have shown resistance to hydroxyurea. Interferon is currently the subject of numerous studies and used in young people, of childbearing age or in pregnancy. Research into these diseases is also very active thanks to numerous Italian groups ”.
In collaboration with GSK
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