Author/Authors :
Konovalov, N.A National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation Acad. N.N. Burdenko, Moscow, Russia , Asyutin, D.S National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation Acad. N.N. Burdenko, Moscow, Russia , Shayhaev, E.G FGBU Russian Research Center for X-ray Radiology of the Ministry of Health of the RussianFederation, Moscow, Russia , Kaprovoy, S.V National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation Acad. N.N. Burdenko, Moscow, Russia , Timonin, S,Yu National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation Acad. N.N. Burdenko, Moscow, Russia
Abstract :
A low occurrence rate of spinal cord gliomas (4.3% of primary and glial CNS tumors) and the associ-ated difficulties in building statistically significant cohorts of patients considerably slow down the development of effective approaches to the treatment of spinal cord tumors compared to brain tumors. Despite our extensive knowledge regarding IDH mutations in intracranial tumors, mutations of this gene in spinal cord astrocytomas remain poorly understood. In this study, we report on five cases of identified mutations in the IDH1 gene in spinal cord astrocytoma cells, two of which are unique, as they have never been previously described in CNS gliomas.
Keywords :
NGS , spinal cord astrocytoma , IDH2 , IDH1
