{"id":30965,"date":"2024-08-07T13:47:11","date_gmt":"2024-08-07T11:47:11","guid":{"rendered":"https:\/\/imagineformargo.org\/?p=30965"},"modified":"2024-08-07T13:47:11","modified_gmt":"2024-08-07T11:47:11","slug":"genetic-diagnostic-platform-for-the-study-of-pediatric-brain-tumors","status":"publish","type":"post","link":"https:\/\/imagineformargo.org\/en\/genetic-diagnostic-platform-for-the-study-of-pediatric-brain-tumors\/","title":{"rendered":"Genetic diagnostic platform for the study of pediatric brain tumors"},"content":{"rendered":"
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\"tumeurs<\/h2>\n

Pediatric Brain Cancers<\/a><\/strong><\/h2>\n

Brain tumors are the most common solid tumors in pediatrics. The annual estimated number of new cases is around 30 per million. Gliomas<\/a> remain the most common central nervous system tumors in children, with high-grade forms being the most difficult to treat. Knowledge gained in recent years, particularly in the molecular classification of these tumors, is evolving practices and treatments.<\/p>\n

About the Project<\/strong><\/h2>\n

According to the 2016 WHO classification of central nervous system tumors, gliomas, ependymomas, and all embryonal tumors must now be evaluated by histological and molecular tests. These molecular alterations are clearly defined, but the techniques to implement them remain at the discretion of each center and sometimes each country. However, the identification of these diagnostic molecular alterations is not yet consistently done in France and may require a large amount of tumor material or even frozen samples. Tumor samples from pediatric tumors can be small in size, sometimes without available freezing (about 10% of tumors).<\/p>\n

In this project, researchers intended to develop, in close collaboration with the French network for re-evaluation of brain tumors (RENOCLIP), a targeted platform of FISH and DDPCR (droplet digital PCR) techniques dedicated to brain tumors. In case of failure of these techniques or tumors not classifiable by conventional techniques, an additional methylation-based classification technique was used (not available in France as part of routine diagnosis in 2019). The objective was to quickly perform targeted confirmation techniques, based on the most likely immuno-morphological and radio-clinical hypotheses.<\/p>\n

The FISH technique is still considered a standard reference technique for the detection of amplifications and fusions using a single tissue section. This in situ technique has the advantage of being interpretable in close association with morphology, taking into account the cell density or infiltrative nature of the tumor. The droplet digital PCR (DDPCR) technique is recent, highly sensitive, and specific. It is used for the detection of fusion genes such as BRAF and FGFR1 duplications and requires very small amounts of DNA extracted from a few tissue sections. These two routine diagnostic strategies were carried out in a coordinated manner, available to all inter-regional coordinators and clinicians responsible for the French RENOCLIP network.<\/p>\n

Main Objectives:<\/strong><\/h2>\n