Blood cancers: new algorithm to include sex and age in calculating risk of severe disease

Age and sex are determining risk factors in the prognosis of myelodysplastic syndromes, blood cancers characterised by anaemia and which can evolve into acute myeloid leukaemia. Published by Lancet Haematology, a multicentre study coordinated by physicians from IRCCS Istituto Clinico Humanitas and carried out within the European GenoMed4All consortium revealed the relation between the sex of patients and the biology of myelodysplastic syndromes. The study results highlight the importance of including the patient’s gender when choosing the therapeutic approach.

According to the results of a study coordinated by IRCCS Istituto Clinico Humanitas as part of the European GenoMed4All consortium (funded by the Horizon 2020 programme) and published by Lancet Haematology, gender and age are key risk factors in the prognosis of myelodysplastic syndromes – blood cancers characterised by anaemia, capable of evolving into acute myeloid leukaemia – and may influence the choice of the most effective therapies.

In particular, being male and over 60 seems to be correlated with more severe anaemia symptoms, shorter life expectancy, and the need for earlier treatment than female subjects with the same disease. Researchers led by Prof. Matteo Della Porta    Head of Leukaemia and Myelodysplasia at Humanitas and Full Professor at Humanitas University, have developed and made available online a new personalised medicine algorithm that calculates the risk of progression of the disease taking into account the patient’s gender and age.

In addition to the EU Horizon 2020 programme, the research was made possible thanks to the AIRC Foundation for Cancer Research and funding from the Italian Ministry of University and Research and the Ministry of Health.

Find out more

Sex influences disease in 3 ways

The research, which collected and analysed retospectively the largest number of myelodysplasia cases available to date (more than 13,000) thanks to the use of Artificial Intelligence and a gender medicine approach, shows that the biological behaviour of the disease and thus the prognosis and treatment are not only influenced by clinical aspects, but also by the sex and age of the patient. The results indicate that sex influences the disease in three areas: its biology, its prognosis and the treatment.

‘As far as biology is concerned,’ explains the study’s scientific coordinator, Prof. Matteo Della Porta, ‘the DNA mutations underlying the disease are different in males and females. This observation is not only of biological value, but has an effect on the manifestation of the disease, i.e. on its ymptoms and its clinical evolution, which depend on the type of DNA alterations: symptoms such as anaemia are more severe in men precisely because of the type of mutations characteristic of the male sex. Prognosis is different, with life expectancy significantly lower for males than for females, regardless of the average life expectancy of the general population. Treatments are also influenced by the sex of the patient: anaemia treatments must be managed differently between males and females, as males tend to have negative consequences on quality of life and life expectancy with higher haemoglobin and red blood cell levels. This is particularly evident in the risk of cardiovascular complications, which are more frequent in males and are more severely affected by the oxygen deficiency resulting from anaemia’.

AI for new algorithm: from research to the clinic

Artificial intelligence (AI) has been key for in-depth analysis of clinical and molecular data in a complex context, allowing to extract as much value as possible and as quickly as possible. Thanks to this study and the collaboration with the data scientists from the Humanitas AI Centre, researchers coordinated by IRCCS Istituto Clinico Humanitas have built algorithms capable of implementing two innovative prognostic models for myelodysplastic syndromes, including age and gender, on individual patients.

By entering the patient’s data into an online platform, doctors can now obtain a more accurate prognosis for each individual patient. The prognosis calculated with the new mathematical model is then compared with traditional clinical scores (International Prognostic Scoring System-IPSS-R), which only use disease-related parameters.

“Our hope – concludes Dr. Giulia Maggioni, haematology resident at Humanitas University and first author of the study published by Lancet Haematology – is that these scientific results, combined with the realisation of the platform, can help doctors make decisions concerning patients with myelodysplastic syndrome”.

Humanitas’ commitment to AI and digitalisation

Istituto Clinico Humanitas is the first hospital in Italy to have an integrated Artificial Intelligence Research Centre: the Humanitas AI Center, directed by Victor Savevski, Chief Innovation Officer of Humanitas. The centre’s mission is to create a space for sharing knowledge and skills between engineers, doctors and data scientists in order to achieve even higher care standards through the construction of intelligent algorithms capable of processing a large amount of clinical information, in order to find associations and define prediction models useful for the progress of scientific research and innovation in areas such as predictive medicine, personalisation of treatments and diagnostic imaging. Humanitas is dedicated to the application of Artificial Intelligence in various fields: from the prevention of colon and rectal cancer (where it is working on a database of omics data in endoscopy) to imaging diagnostics and haematology.


Humanitas is a highly specialized Hospital, Research and Teaching Center. Built around centers for the prevention and treatment of cancer, cardiovascular, neurological and orthopedic disease – together with an Ophthalmic Center and a Fertility Center – Humanitas also operates a highly specialised Emergency Department.