Molecular characterisation of acute myeloid leukaemia (AML)
The activities carried out by NAnA are divided into three lines of action:
- Research on Francesca’s cells
- Networking at international level
- Awards for research activities in the field of oncology
These lines should not be considered as entirely separate: there are numerous interactions and synergies between them. This points to a common thread running through the different actions carried out by the Association to date. Behind NAnA’s research activities there is a clear question:
Why did Acute Myeloid Leukemia (AML) manifest so rapidly and aggressively in Francesca’s case, leading to her passing away within a few days of the first symptoms?
What is AML? Acute Myeloid Leukaemia is a disease characterised by abnormal growth of undifferentiated myeloid precursors, i.e. bone marrow stem cells that give rise to different types of blood cells including white blood cells, red blood cells and platelets.
In the context of AML, myeloid precursors may undergo genetic abnormalities or mutations that cause abnormal growth and multiplication. These immature and abnormal myeloid cells accumulate in the bone marrow and can invade the bloodstream, causing the symptoms of AML.
At what age does it occur? The prevalence of AML varies with age. It is relatively rare in children, accounting for about 15-20% of all childhood leukaemia cases. Its incidence peaks in the first 2 years of life and then declines, with a second, lower peak during adolescence. Thereafter, the incidence of AML increases with age and is most frequently diagnosed in adults over 60 years of age.
The incidence of this disease is estimated to be about 1.54 cases per 100,000 people and about 110 cases per 100,000 among adults over 65.
What are its characteristics? AML is a heterogeneous disease: clinical manifestations can vary widely and important molecular differences have been found in genetic abnormalities and mutations associated with its onset. This heterogeneity, together with the high relapse rate, is thought to be responsible for the relatively low overall survival at five years, which remains around 70% for childhood AML.
What can be done? There is considerable and concrete interest in gaining an in-depth and detailed understanding of the mechanisms underlying the heterogeneity of AML: this is indispensable for the development of specific treatments aimed at groups of patients with common disease characteristics and could also pave the way for disease prevention actions.
However, it is important to consider the difficulties – of various kinds, including economic – arising from the rarity of AML, especially when the disease is categorized into various subtypes of juvenile manifestation. In particular, for cases of particularly aggressive AML similar to Francesca’s, described as sporadic, not even a reliable case history is available.
The study of Francesca’s tumour – and of other similar cases – thus represents a real challenge for modern medicine: a difficult one that requires non-specialized support, and is not just a manifestation of understandable parental desire for answers to one’s painful whys.
The story of the project ‘Le Cellule di Francesca‘: The project starts in September 2020 in the laboratories of the Regina Elena Institute in Rome with the funding by NAnA of a grant won by Dr. Gabriele Loiudice to work on the project ‘Identification and study of the impact of genetic susceptibility variants in adolescent acute myeloid leukaemia (AML)’. The research is the result of a collaboration between Dr. Maurizio Fanciulli’s group of the Department of Research, Diagnosis and Innovative Technologies of the IRCCS Regina Elena National Cancer Institute, Scientific Director Prof. Gennaro Ciliberto, and the Laboratory of Advanced Oncohaematological Diagnostics of the University of Rome Tor Vergata, directed by Prof. Maria Teresa Voso.