Humanitas is leader of a European study, together with Rete Ematologica Lombarda and the MLL Leukemia Laboratory in Munich, which led to the development of a diagnostic test for the screening of patients at risk of developing myeloid neoplasms, a test capable of detecting the presence of mutations related to these tumors.

“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 leukaemias, myelodysplastic syndromes and chronic myeloproliferative diseases,” explained Prof. Matteo Della Porta, Head of Leukaemia and Myelodysplasia Section in Humanitas and lecturer at Humanitas University.

The study of DNA changes related to haematological neoplasms could lead to earlier diagnosis and specific treatment in the individual patient. Several mutations have been identified associated with the risk of developing cancer forms. “The mutations are the result of the aging process of the hematopoietic stem cell, in which the mechanisms of repair of DNA defects are progressively less efficient with age,” Della Porta clarified. “These initial mutations lead to the proliferation of diseased cells, carriers of the initial mutation, which replace healthy cells and gradually acquire new mutations that determine the appearance of the disease, in a process that can last several years.

Early diagnosis and the right therapy

“Studies carried out in recent years have shown that the identification of the molecular bases of blood diseases makes it possible to identify new diagnostic and prognostic tools and to develop new therapies,” Della Porta continued. “Some significant steps have been taken in understanding the biology of myeloid neoplasms as a result of the availability of new generation technologies for DNA analysis and gene mutation research. Some of these discoveries have allowed the development of personalized medicine programs, in which the definition of the genetic basis of the disease in the individual patient allows to define the most effective treatment at the individual level”.


Identifying people at risk

The analysis of mutations related to cancer forms of blood cells allows to identify people with a higher risk. The new test, developed by Humanitas and the Lombardy Haematological Network with the support of the MLL Leukemia Laboratory in Munich, allows to search for mutations in 72 genes associated with the risk of developing myeloid neoplasms starting from a simple blood sample.

“Knowing in advance these risk factors that may prelude the development of these 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,” said Della Porta concluding that “now the challenge is to make this test available to all patients as soon as possible”.