The analysis of mutations related to tumor forms of blood cells allows to identify people who are at a higher risk of getting sick. This area includes the work of Humanitas and Rete Ematologica Lombarda, funded by the Beat Leukemia Foundation, which supports in Humanitas a program for the development of new diagnostic tests for patients with haematological neoplasms. The new test, starting from a simple blood sample, allows to search for mutations in 72 genes associated with the risk of developing myeloid neoplasms. We had the important news explained to us by Prof. Matteo Della Porta, head of the leukaemia and myelodysplasia section at Humanitas.
How does the test work?
“Myeloid neoplasms are a heterogeneous group of neoplasms, more frequent in the elderly population, that originate from the precursor stem cell of blood cells (red blood cells, white blood cells or platelets), and include acute leukemias, myelodysplastic syndromes and chronic myeloproliferative diseases,” explained Prof. Della Porta. “As for other diseases, also in this area an advancement in the knowledge of the molecular and genetic bases would allow both an earlier diagnosis, with greater possibilities of treatment, and a better definition of the risk of developing these neoplasms”.
The new test, starting from a simple blood sample, allows to search for mutations in 72 genes associated with the risk of developing myeloid neoplasms and it is due to the fact that some significant steps have been taken in the understanding of the biology of myeloid neoplasms following the availability of new generation technologies for DNA analysis and the search for mutations in genes. Some of these discoveries have enabled the development of personalized medicine programmes, in which the definition of the genetic basis of the disease in the individual patient makes it possible to define the most effective treatment at individual level.
Earlier diagnosis and personalized therapy
The study of DNA changes related to haematological neoplasms could lead to earlier diagnosis and specific treatment in the individual patient. Several mutations associated with the risk of developing these forms of cancer have been identified.
“Knowing in advance these risk factors that may prelude the development of such tumors in subsequent years is of extreme importance in the immediate future, to subject these individuals to active clinical surveillance and if necessary to a therapy at an earlier stage, with greater possibilities of treatment, and, in the future, to prepare strategies for prevention itself,” says Della Porta, and concludes: “Now the challenge is to make this test soon available to all patients”.
