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Thanks to personalised medicine it is now possible to overcome cancer of the blood

 An international congress in Florence to discuss diagnostic advances and therapies of the future

 

Florence, 8 September 2016- Chronic Myeloproliferative diseases belong a family of cancers that affect the haemopoietic stem cells of the bone marrow, in other words, the progenitor cells of the red and white blood cells and the circulating platelets in the peripheral blood.

Despite being diseases with a tendentially chronic outcome, survival may be reduced compared to the control population, especially in the case of myelofibrosis for which the average survival rate is six years. However, in recent years there has been an improvement in these data thanks to early diagnosis, better prevention and management of the complications, and the development of new therapeutic approaches.

Due to the fact that the prevalence of these diseases is on the rise, the rapid progress of knowledge in this sector calls for ongoing upgrading of the diagnostic techniques to ensure earlier and more accurate diagnoses in order to facilitate targeted therapeutic choices in the spirit of “personalised medicine”.

The discovery of the recurrent genetic mutations in these tumours, which is represented by the mutation of the JAK2 gene, and more recently also by the calreticulin and MPL genes, has enabled us to understand some of the mechanisms underlying these diseases and has improved their diagnosis.

Thecongress,“Recent Advances in Understanding and Treating Myeloid Neoplasms”, to be held in Florence from 8 to 10 September 2016, is taking place ten years after the discovery of the first JAK2 mutation in patients with myeloproliferative neoplasm, and five years after the authorisation of the first JAK2 inhibitor in the treatment of myelofibrosis. Many of the scientists who have contributed to these discoveries will be intervening at the congress to present the latest developments in this field and discuss future progress.

The congress, which is being organised by the University of Florence and the University Hospital of Careggi, is promoted by the Fondazione Internazionale Menarini.

A more in-depth understanding of the physiopathological mechanisms has made it possible to start thinking in terms of targeted therapy. Within the space of a few years after 2005, the year when the first mutations were discovered, various clinical trials have been conducted with the first drug that is able to target abnormal activation of the intracellular regulation controlled by the JAK2 protein.

“This is an extremely interesting moment for these diseases also because we are finally able to improve the patient’s quality of life and control numerous symptoms”, explainedAlessandro Maria Vannucchi, Professor of Haematology of Department of Experimental and Clinical Medicine of the University of Florence, and Chairman of the congress. “Moreover, there is evidence that the new drugs can also prolong life, but at the same time there are very little data to support any deep activity of the drug against the diseased cells”.

The new therapeutic weapons allow doctors to personalise, and therefore improve, the healthcare of patients. The team in Florence, coordinated by Vannucchi, has developed various studies aimed at understanding these mutations and improving the ability to classify patients in various risk classes, thus making it possible to apply the currently most effective therapeutic interventions to these different risk classes. Over the last six years, numerous important studies have been concluded in Italy in this sector, also thanks to the AIRC (Italian Association for Cancer Research) which funded the AGIMM project, a network of Italian centres for developing clinical and experimental research, coordinated by Vannucchi. The progress made by the Florentine researchers has induced the Careggi University Hospital to set up the CRIMM (Research and Innovation Centre for Myeloproliferative Diseases) which is specifically dedicated to the development of new systems for the diagnosis, management and care of patients suffering from this type of cancer.

“There are various other genetic mutations besides the JAK2 which are nearly all present in the development of the tumour and which become important because they render the genetics of the cancer cell more complex”, continued Vannucchi. “We have discovered that these mutations have great prognostic significance, meaning that patients with these mutations have a reduced survival rate and higher leukaemic-transformation risk. With these mutations we are able to better identify these patients than in the past, especially young people, who have a higher risk of a negative prognosis and should therefore be subjected to a stem cell transplant which is currently the most effective procedure in these cases. Since the death rate linked to the transplant of stem cells is still between 20 and 40 percent, it is very important to select the most appropriate candidate patients for this treatment”, concluded Vannucchi.


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