Walter Patrick Devine

Meningioma molecular profiling has revealed biological drivers and therapeutic vulnerabilities,1 but existing studies have used retrospective nonconsecutive samples, which provide suboptimal approximations of molecular alteration prevalence across demographic groups. Herein, we report findings from prospective genomic profiling of 1104 consecutive meningiomas.

Schwannomas are benign peripheral nerve sheath tumors that can arise either sporadically, frequently involving somatic alterations in NF2, ARID1A, ARID1B, and DDR1 genes [1], or in the context of schwannomatosis, which is associated with germline SMARCB1 or LZTR1 mutations [2]. A distinct subset of schwannomas has been shown to harbor an SH3PXD2A::HTRA1 fusion, including both sporadic cases [3] and those associated with LZTR1 germline mutations [2].

Abstract Introduction: Mosaic gain of chromosome 1q (chr1q) has been associated with malformation of cortical development (MCD) and epilepsy. Hyaline protoplasmic astrocytopathy (HPA) is a rare neuropathological finding seen in cases of epilepsy with MCD. The cell-type specificity of mosaic chr1q gain in the brain and the molecular signatures of HPA are unknown.