Meningiomas induced by low-dose radiation carry structural variants of NF2 and a distinct mutational signature
Sahm F, Toprak UH, Hübschmann D, Kleinheinz K, Buchhalter I, Sill M, Stichel D, Schick M, Bewerunge-Hudler M, Schrimpf D, Zadeh G, Aldape K, Herold-Mende C, Beck K, Staszewski O, Prinz M, Harosh CB, Eils R, Sturm D, Jones DTW, Pfister SM, Paulus W, Ram Z, Schlesner M, Grossman R, von Deimling A.
Acta Neuropathol. online article
We here performed whole genome sequencing of 20 meningiomas induced by low-dose radiation (L-Mrad). Age, gender, and WHO grade are given in the supplementary tables. However, the documentation lacked the date of irradiation and the exact histological subtype, which could also not be determined retrospectively due to freezing artifacts. Whole genome sequencing of these 20 L-Mrad with matched germline controls revealed single nucleotide variations (SNVs) of NF2 in 6/20 (30%) cases, in line with 25% detected by Sanger sequencing in a previous L-Mrad cohort. 2/20 (10%) cases had small insertions/deletions (InDels) within NF2 (SNVs and InDels in Supplementary Tables).
