In the year 1973 I got my degree in Biological Science at the University of Genoa. In 1983, I got the specialty in Molecular Biology at the University of Milan whereas in 1995, I enriched my curriculum with the specialty in Human Genetics at the University of Pavia. I was a staff assistant at the Transplantation Center, San Martino Hospital, Genoa but then I got my first fellowship at the G. Gaslini Children’s Hospital, Genoa, Italy. I spent the period between 1977 and 1999 as a staff assistant and then as a Deputy Head of the Laboratory of Oncology, G. Gaslini Children’s Hospital, Genoa, Italy. From 2000 to 2012 I was Deputy Head of Laboratory of Genetics Population, and then Head of Translational Pediatric Oncology at the National Cancer Research Institute, Genoa, Italy.
An important step for my scientific career was the role as Head of Laboratory of the “Fondazione Italiana per la Lotta al Neuroblastoma” (Neuroblastoma Laboratory of Italian Neuroblastoma Foundation) that I joined in 1994. In that period, the Laboratory was located at the National Cancer Research Institute of Genoa but starting from 2013, the Laboratory moved to the Institute of Pediatric Research (IRP), Città della Speranza, Padua, Italy.
I started to study neuroblastoma, a pediatric tumor originating from the neural crest cells, in 1980 while I was a staff assistant at the G. Gaslini Childrens’ Hospital of Genoa, Italy. I would like to highlight 1983, which was very important for the scientist community that studied Neuroblastoma. In that year Manfred Schwab, discovered the amplification of MYCN oncogene in neuroblastoma cells and in 1984 I started to evaluate the MYCN amplification in the first Italian patient. Since 1985, when I became group leader, I evaluate the MYCN gene amplification in all Italian cohorts of patients with neuroblastoma. To make this decision more effective, I organized a collaborating network among the Italian Pediatric Oncology Centers. The proposal was to collect biological samples from each center to my research group for the evaluation of the MYCN gene status in neuroblastoma patients enrolled in the Italian clinical trials. Thanks to this network sponsored by AIEOP (Associazione Italiana Emato/Oncologia Pediatrica), AIRC (Associazione Italiana Ricerca sul Cancro) and Fondazione Italiana per la Lotta al Neuroblastoma, I was able to build up the first Italian Neuroblastoma Tissue collection center. An important moment for my line of work from 1984 to 1986 was a traineeship at the National Cancer Institute of Frederick (MD, USA) as a guest researcher.
Afterwards, I was elected as the Italian Coordinator of the Biology Group of the AIEOP. I gave my contribution to this association from 1990 to 2008. During 1990 I did a traineeship at the German Cancer Centre of Heidelberg under the supervision of Manfred Schwab. From 1994 to 2009 I was in charge as the Italian representative member of the SIOPEN (European Neuroblastoma Pediatric Oncology Society) in the first European Trial for localized Localized Neuroblastoma European Study Group 1 (LENSG1), in which MYCN amplification was introduced as a new risk factor. While I was in this position I participated in the following Trials: LENSG1, LENSG2, EUNB (European Unresectable NB), HR-NB (High-Risk NB), LINES (Low-Intermediate Neuroblastoma European Study). In particular, LINES (Low- Intermediate Neuroblastoma European Study) is one of the first examples in which the evaluation of chromosome copy number aberrations has been used as patient’s risk assessment. Meanwhile, I was very interested in the genesis of neuroblastoma and I proposed to the Italian Neuroblastoma Foundation to identify neuroblastoma-associated genes using formal genetic tools such as linkage analysis of neuroblastoma pedigrees. In 2007, we collected a large, three generation Italian pedigree and we identified a predisposition neuroblastoma locus on the short arm of chromosome 2. The same family was included in a collaborative study with the Children’s Hospital of Philadelphia, which contributed to the discovery of ALK gene as the first neuroblastoma predisposition gene. This discovery was one of the most important in my career.
Recently, I used the whole exome sequencing to identify neuroblastoma mutations. In the last few years, together with my new research team at the IRP, I have studied the role of autophagy in neuroblastoma cell, the chromosome instability and the transcription instability in all neuroblastoma clinical stages. We have also built up an interesting zebrafish model for neuroblastoma. Most of the success in my career was thanks to the effort and collaborative work of my numerous collaborators who cannot all be listed here but that can be seen in my publications.
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