Personalized medicine in hematology, and furthermore the study of the neoplastic genome is able to predict the success of a transplantation for patients with acute and chronic leukemia.

A study of the Italian Transplantation Group on the neoplastic genome was coordinated by prof. Matteo Della Porta, head of the Leukemia Unit of Humanitas, and published in the prestigious Journal of Clinical Oncology.

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What is MDS?

The myelodysplastic syndromes (MDS) are diseases of the bone marrow (leukemia), characterized by a chronic phase (severe anemia) and, over time, evolved to acute.

The incidence of MDS is constantly increasing in the elderly population, and recently they have been recognized as a critical impact disease for health policy from the American Society of Hematology.


What are the treatments currently available for MDS?

The stem cell transplant is currently the only opportunity for cure. However, the procedure is burdened with a risk of death and failure (re-submission of the disease). Also traditional clinical parameters are not able to efficiently predict the outcome of the transplant in the individual patient.


New perspectives of care

“In recent years advanced technologies for the study of the genome have opened the way to new therapeutic perspectives. Thus making possible the study of the biological mechanisms underlying many diseases of the blood”.

The Italian Transplant Group (Gitmo) published the first study to show that the analysis of the neoplastic genome (obtained from cells of the blood) is able to predict the success of the transplant in myelodysplastic syndromes and acute leukemia.

The project which is funded by AIRC (Italian Association for Cancer Research), Fondazione Veronesi and Fondazione Cariplo – has resulted in the enrollment of 400 patients undergoing stem cell transplantation. The collected data have identified three genes (TP53, RUNX1, ASXL1) that when mutated are inevitably associated with graft failure. The study has also elucidated the molecular mechanism that determines the reappearance of disease a long time after the treatment.

“This discovery – said prof. Della Porta – has very important clinical implications. We will be able to predict which patients will benefit from a transplantation, and to implement the most effective strategies to prevent disease recurrence in high-risk patients”.

“Given the encouraging results of the study – says prof. Della Porta – Humanitas University is developing an innovative test. Starting from a few drops of venous blood, in just 48 hours we are able to detect or exclude the presence of these mutations”.

The project lays the foundation for the development of personalized medicine programs in the treatment of acute and chronic leukemias in which the diagnosis and choice of treatment does not depend on clinical aspects, but from mutations of genes present in the blood cells of each patient. “We hope that this paradigm shift can have an important impact on the patients life expectancy and quality when suffering myelodysplastic syndromes”, says Prof. Della Porta.

In April Humanitas Cancer Center was certified by the MDS Foundation, (world body of reference for myelodysplastic syndromes) and is now an international center of excellence for the treatment of these diseases.