Events
O martes 21 de xaneiro de 2025, a Prof. Monica Neagu (Immunology Department, Victor Babes National Institute of Pathology. Pathology Department, Colentina Clinical Hospital. Bucharest, Romania), ofrecerá o seminario “Insights in genetic traits in skin cancers using droplet digital PCR" dentro do ciclo CINBIO Seminar Programme.
Será ás 11:00 horas na Sala de seminarios de Torre CACTI.
ABSTRACT:
The purpose of our study was to evaluate the genetic alterations that could affect the EGFR-RAS-RAF pathway in search of new druggable genetic targets. Paraffin embedded samples from patients diagnosed with skin melanoma or squamous cell carcinomas (SCC) were evaluated using droplet digital PCR (ddPCR) in comparison to benign nevi and normal skin samples. Samples were diagnosed using histology and immunohistochemistry evaluation. The mutational status of healthy skin, nevi and skin cancers specimens was assessed by ddPCR using BRAF V600, NRAS G12/G13, NRAS Q61, KRAS Q61 and EGFR exon 19 deletions Screening Assays according to manufacturer's instructions. The samples subjected to ddPCR were analysed also on RT-PCR and we found a perfect correlation between the data obtained on both technologies (Spearman correlation coefficient = 0.9913).We have found over 86% of the benign nevi harbouring BRAF V600 mutations, while only 56% of skin melanomas harboured the same mutation. In melanomas BRAF mutations significantly associated with various classical histopathological parameters Particularly, malignant transformation to a BRAF wild-type melanocytic tumor occurred in one of our cases involving a benign nevus with BRAF V600 positivity. ddPCR technique is sensitive so that we detected have in a normal skin sample NRAS G12/Q61 mutation, while the benign nevus excised from the skin harboured BRAF mutation. The high mutation profile of benign nevi was associated with a high expression of cell cycle regulatory proteins that could explain the melanocyte’s arrested cell cycle within a benign nevus. The molecular profiling of tumorigenesis is important to follow the dynamics of skin cells transformation (e.g. melanocyte, keratinocyte) towards skin cancer and moreover can orient the patient's therapy.
BIO:
Prof. Monica Neagu is a distinguished immunologist and senior researcher based in Bucharest, Romania. She heads the Immunology Laboratory at the Victor Babes National Institute of Pathology and serves as a senior researcher in the Pathology Department of Colentina Clinical Hospital. Her work spans immuno-oncology, biomarker discovery, proteomics, and regenerative medicine, with significant contributions to tumor immunology and skin diseases. Dr. Neagu has led numerous national and international research projects, coauthored over 200 scientific publications and multiple patents in dermato-oncology and biomarkers. Her work has been recognized with 10 international awards for her patents. Between 2019 and 2024, she was ranked among the top 2% of scientists worldwide in the Mendeley database.
Dr. Neagu is also a prominent member of several professional organizations, including the Romanian Society of Immunology and the World Academy of Sciences. She has served on the editorial boards of several international journals and as project evaluator.
