IDH1 mutation can be present in diffuse astrocytomas and giant cell glioblastomas of young children under 10 years of age

Excerpt

A recurrent arginine-to-histidine missense mutation in either IDH1 or IDH2 genes (at codons R132 and R172, respectively) is present in >80 % of lower grade (WHO II–III) diffuse gliomas and secondary glioblastomas arising within the cerebral hemispheres in adult patients [1]. In contrast, IDH1/2 mutations are not found in most pediatric counterparts, where a different set of genetic alterations have been identified, including MYB or MYBL1 rearrangement, FGFR1 alterations, BRAF-V600E mutation, and mutations in the histone H3 variants H3F3A or HIST1H3B [4, 5]. The earliest age at which IDH1/2 mutation contributes to gliomagenesis is unknown, but was previously thought to be during mid-to-late teenage years, as diffuse gliomas in older teenagers sometimes harbor IDH1/2 mutation, whereas diffuse gliomas in children and younger teenagers are virtually always IDH1/2 wild-type [2, 3]. Here, we report three children less than 10 years of age with diffuse gliomas harboring IDH1 mutation, suggesting that such mutations can also be oncogenic drivers in this age group, and therefore, that IDH testing is warranted in diffuse gliomas from all patients regardless of age. …