Rare Cases of IDH1 Mutations in Spinal Cord Astrocytomas

N A Konovalov; D S Asyutin; E G Shayhaev; S V Kaprovoy; S Yu Timonin

doi:10.32607/actanaturae.10915

Rare Cases of IDH1 Mutations in Spinal Cord Astrocytomas

Acta Naturae. 2020 Apr-Jun;12(2):70-73. doi: 10.32607/actanaturae.10915.

Authors

N A Konovalov¹, D S Asyutin¹, E G Shayhaev², S V Kaprovoy¹, S Yu Timonin¹

Affiliations

¹ National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation Acad. N.N. Burdenko, Moscow, 125047 Russia.
² FGBU Russian Research Center for X-ray Radiology of the Ministry of Health of the Russian Federation, Moscow, 117485 Russia.

Abstract

A low occurrence rate of spinal cord gliomas (4.3% of primary and glial CNS tumors) and the associated 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: IDH1; IDH2; NGS; spinal cord astrocytoma.