Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas.

摘要: Mutations in the critical chromatin modifier ATRX and mutations CIC FUBP1, which are potent regulators of cell growth, have been discovered specific subtypes gliomas, most common type primary malignant brain tumors. However, frequency these many their association with clinical features patients, is poorly understood. Here we analyzed loci 363 frequently mutated grade II-III astrocytomas (71%), oligoastrocytomas (68%), secondary glioblastomas (57%), associated IDH1 an alternative lengthening telomeres phenotype. FUBP1 occurred oligodendrogliomas (46% 24%, respectively) but rarely or (<10%). This analysis allowed us to define two highly recurrent genetic signatures gliomas: IDH1/ATRX (I-A) IDH1/CIC/FUBP1 (I-CF). Patients I-CF gliomas had a significantly longer median overall survival (96 months) than patients I-A (51 that did not harbor either signature (13 months). The distinguished clinically distinct groups oligoastrocytoma usually present diagnostic challenge, were differences outcome even among individual tumor types. In addition providing new clues about alterations underlying results immediate implications, tripartite can serve as useful adjunct conventional glioma classification may aid prognosis, treatment selection, therapeutic trial design.