Intracranial venous malformation masquerading as a meningioma in PI3KCA‐related overgrowth spectrum disorder

Abstract

Gain of function PIK3CA pathogenic variants have been identified in overgrowth syndromes collectively termed "PIK3CA-related overgrowth spectrum" (PROS). There are no previously reported cases of cerebrovascular venous malformations in PROS syndromes, though somatic activating PIK3CA variants have been identified in extracranial venous malformation. This study was approved by the Institutional Review Boar at Boston Children's Hospital. A 14-year-old female mosaic for the de novo p.R108H pathogenic variant in the PIK3CA gene was found to have a large tumor involving the superior sagittal sinus with mass effect on the motor cortex most consistent with a parafalcine meningioma. She underwent surgical resection with pathology demonstrating a venous malformation. PIK3CA pathogenic variants have been

Review of meningioma diagnosis and management

“…When radiomics was applied to basic MRI, it was shown to distinguish between Grade I, II, and III meningiomas between 76 and 93% based on the features of the lesion [98][99][100][101]. This accuracy can be further increased when radiomics is applied to diffusion-weighted imaging (advanced MRI) [102]. Radiomics, therefore, presents a new way to assess and diagnose meningiomas [94].…”

Embryonal and non‐meningothelial mesenchymal tumors of the central nervous system – Advances in diagnosis and prognostication

“…A brain MRI was performed part of routine screening for overgrowth syndrome, and it uncovered a large parafalcine mass that radiographically mimicked meningioma. Histologic examination showed back‐to‐back dilated vessels with thin walls and occasional calcifications, in keeping with a vascular lesion, and there were no meningothelial cells seen (Figure 6A) [35].…”