Research Group:  Mauro Ceroni, E. Marchioni

Diffuse gliomas are a heterogeneous group of tumors, burdened by severe morbidity and mortality. Histology alone does not account for this biological diversity, while molecular markers have proven extremely helpful for diagnostic and prognostic purposes, as well as to disclose genetic alterations susceptible of target therapy.
Patients who cannot undergo surgical resection or biopsy are excluded from these diagnostic and therapeutic chances, and are left out of most anti-tumoral treatments. Moreover, gliomas may express at recurrence a different molecular profile than the initial tumor, but re-intervention is only rarely an option.
Thanks to the recent advances in molecular diagnostics, we may now try to overcome these limitations by the application of high-output technologies to the analysis of liquid biopsies. This project focuses on the molecular profiling of diffuse gliomas from the cell-free tumor DNA released in the bloodstream or in the cerebrospinal fluid of affected patients. This technique should allow to reach a definite diagnosis of glioma in patients not amenable to biopsy, and to monitor the molecular profile of the tumor during treatment in order to identify therapeutic targets. This project should allow to acquire enormous data on the different patterns of glioma evolution, and harbors tremendous practical implications for patient care.

Recent Publications:

• Boisselier B, Gállego Pérez-Larraya J, Rossetto M et al. Detection of IDH1 mutation in the plasma of patients with glioma. Neurology. 2012 Oct 16;79(16):1693-8.
• Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med. 2014 Feb 19;6(224):224ra24.
• Pentsova EI, Shah RH, Tang J, et al. Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid. J Clin Oncol. 2016 Jul 10; 34(20):2404-15.