Projects

The Molecular Pathology Laboratory of the IRCCS of Reggio Emilia carries out research projects in the translational field with the aim of improving and implementing diagnostic techniques for various pathologies. The research projects are carried out in close collaboration with various units and departments of the IRCCS of Reggio Emilia.

Search for germline variants for the diagnosis of hereditary tumor pathologies

During 2023, a path was introduced for patients suspected of having hereditary tumor pathologies. To date, this project has mainly investigated the pathologies of Familial Melanoma, Lynch syndrome, colorectal tumors and endocrine tumors including Pheochromocytoma and Paraganglioma. This project has been included in the IRCCS strategic plans for the improvement of specialist diagnostics as indicated by the international guidelines of Aiom, OECI and ESMO. The aim is to lead the patient to a correct diagnosis and communication of the results through genetic counseling to evaluate the involvement of family members. This project involves the involvement of numerous figures including oncologists, nurses, pathologists, geneticists and molecular biologists.
In the molecular pathology laboratory, tests are performed to evaluate alterations in genes involved in hereditary pathologies using MLPA tests and NGS sequencing.
In detail, the use of the Hereditary Cancer panel (Illumina) for the analysis of germline-related variants and hereditary pathologies allows for the complete analysis of a large number of genes, and not just specific selected targets.