Two predominant molecular subtypes of spinal meningioma: thoracic NF2-mutant tumors strongly associated with female sex, and cervical AKT1-mutant tumors originating ventral to the spinal cord
Lingyang Hua, Majd Alkhatib, Dino Podlesek, Leila Günther, Thomas Pinzer, Matthias Meinhardt, Silke Zeugner, Sylvia Herold, Daniel P. Cahill, Priscilla K. Brastianos, Erik A. Williams, Victoria Clark, Ganesh M. Shankar, Hiroaki Wakimoto, Leihao Ren, Jiawei Chen, Ye Gong, Gabriele Schackert, Tareq A. Juratli
Abstract
Spinal meningiomas (SM) comprise 5–10% of primary meningiomas and up to 30% of spinal intradural tumors. SMs are usually sporadic, but rarely, they can develop in association with genetic diseases like neurofibromatosis type 2 or schwannomatosis [2, 4, 6]. While the mutational landscape of intracranial meningiomas has been extensively studied [3, 5, 11, 14], our understanding of the molecular profile of SM remains incomplete. To date, genomic studies in SMs have been underpowered to make significant conclusions about the correlations between main genomic driver alterations and clinical features of these tumors. Here, we sought to assess the mutational profile of WHO grade 1 SM and to investigate the clinical characteristics that correlate with the genomic status.