Year 2024 – FUV Research Project funded by Agorà
- Apr 10
- 2 min read
RESEARCHER AND PROJECT
Emanuele Monteleone
Born in Palermo in 1985
Degree in Cellular and Molecular Biology from the University of Turin
PhD in Molecular Medicine from the University of Turin
Project location:
University of Turin
Project objective
Molecular and clinical characterization of Extramammary Paget’s Disease: a project focused on a rare condition, with the aim of deepening the understanding of its molecular and clinical foundations and promoting increasingly targeted diagnostic and therapeutic approaches.
PRESENTATION OF THE FUNDED PROJECT
Also in 2024, the research project supported by the Fondazione Umberto Veronesi continues under the leadership of Dr. Emanuele Monteleone, focusing on the study of Vulvar Paget’s Disease (VPD), a rare form of skin cancer affecting the vulvar area.
The main objective of the study is to investigate the biological mechanisms underlying the disease and to identify new biomarkers (“molecular indicators”) that may help improve early diagnosis and prognostic evaluation.
Cellular analysis
During the first months of research, an in-depth analysis of single cells from both healthy and diseased vulvar tissues was conducted. The results showed a significant increase in fibroblasts in VPD-affected tissues, particularly those with inflammatory characteristics.
This finding suggests that inflammatory processes and interactions with the tissue microenvironment play a key role in the development and progression of the disease.
Genetic analysis
In parallel, a study on the genetic profile of tumors was carried out on a sample of 16 patients. All analyzed samples showed the presence of genetic mutations, although distributed heterogeneously across different genes.
In particular, some alterations were found to be recurrent, involving genes such as GLUD2 and RAB6C, and mainly affecting mechanisms related to protein production. These results suggest the possible existence of different molecular pathways underlying the disease.
To further validate these findings, the research team has initiated more in-depth analyses directly on patients’ DNA.
Future perspectives
The results obtained represent a crucial first step toward a better understanding of Vulvar Paget’s Disease. The identification of specific cellular and genetic alterations may contribute to the development of more accurate diagnostic tools and more targeted therapeutic strategies.
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