“A complex and refined molecular method that allows us to identify tumors of the central nervous system and beyond”, has been developed at the Aou Meyer Irccs in Florence, the only one in Tuscany and among the very few in Italy. “Thanks to a team effort involving Dr. Laura Giunti (Neuro Oncology), Dr. Anna Maria Buccoliero (Pathological Anatomy), Dr. Iacopo Sardi (Neuro Oncology) and Dr. Lorenzo Genitori (Neurosurgery), the Aou Meyer Irccs is now able to evaluate the methylation profile (methylome) of oncological pathologies that often aggressively affect children – underlines a note from the Aou Meyer – Thanks to a significant technological investment and the expertise of its operators, the Meyer hospital is thus aligned with the best world standards for the diagnosis and consequently for the treatment of these rare and still little-known tumors. The method introduced in fact requires highly specialized personnel in the biomolecular and bioinformatics fields and the use of sophisticated new-generation equipment and complex computer algorithms”.
How it works. “The method detects the presence of methyl groups in particular regions of DNA called methylation islands – continues Meyer – The methylation of these genomic regions regulates gene expression, that is, the “on” or “off” state of individual genes. It is known that each tumor has its own specific methylation profile that distinguishes it from all other tumors, therefore the analysis of the methylation state of its DNA provides useful and in some cases indispensable information for diagnostic, prognostic and predictive purposes. The experimental process starts with the extraction of DNA from a small tumor fragment surgically removed and ends with the comparison of the methylation profile of the tumor under examination with that of a large number of reference tumors in order to find the precise diagnostic correspondence”.
The introduction of this analysis is particularly useful for the diagnosis of tumors with numerous molecular subtypes whose precise classification has important prognostic-therapeutic implications or in those cases of tumors in which traditional anatomo-pathological diagnostic methods prove inconclusive for a precise and accurate diagnostic definition.
‘This method will make it possible to recognize and classify new tumor entities’
“Through the analysis of the methylation profile it is also possible to identify chromosomal aberrations that help doctors in choosing the most effective and personalized post-surgical pharmacological treatment. Last but not least, this method will make it possible to recognize and classify new tumor entities that, in the current state of knowledge, do not find a diagnostic correspondence among known tumors”, highlights Meyer.
“The study of the methylation profile has not only diagnostic, prognostic and therapeutic value but also represents a useful tool for scientific research. This method – concludes the note – will be used to increase our knowledge in an oncological field that is still very little explored and to obtain new diagnostic-therapeutic correlations useful for improving the treatment of tumors of the central nervous system”.
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