MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS

Abstract

Cerebral cavernous malformations (CCM) are in most cases located within the brain parenchyma. Familial forms of CCM (FCCM) are characterized by an autosomal dominant pattern of inheritance and the presence of multiple cerebral lesions.1 Three CCM genes have been identified: CCM1/KRIT1 , CCM2/MGC4607 , and CCM3/PDCD10 .1,2 They are involved in 53%, 15%, and 10% of patients with FCCM.3 All mutations lead to premature stop codons. Herein, we identified, within a series of 197 index patients with CCM mutations, four patients with multiple dural-based lesions mimicking meningiomas. All four index patients carried a mutation in CCM3 . ### Methods and results. A consecutive cohort of 267 CCM index patients with either multiple lesions or an affected relative who gave written informed consent were screened for mutations within the three CCM genes as previously reported.3 This study was approved by our local ethics committee. Genetic screening identified a deleterious mutation in 197 of these index patients, which constituted our study group. Clinical manifestations and mutations of 128 of these index patients were previously reported.2 A total of 129 out of the 197 index patients had a CCM1 mutation (65.4%), 39 had a CCM2 mutation (19.7%), and 29 had a CCM3 mutation (14.7%) (data not shown). Multiple intracranial dural-based lesions were detected in four index patients whose main imaging features are shown in the figure. Briefly, these four patients (three women/one man; mean age: 48 years, range: 42–64) show the following: 1) …