• Francesco Maiuri, Giuseppe Mariniello, Sergio Corvino, Teresa Somma, Elia Guadagno, Giuseppe Teodonno, Marialaura Del Basso De Caro, and Paolo Cappabianca.
• Department of Neurosciences and Reproductive and Odontostomatological Sciences, Neurosurgical Clinic, Naples, Italy. Electronic address: frmaiuri@unina.it.
• World Neurosurg. 2021 Nov 1; 155: e75-e82.

BackgroundFamilial forms of cavernous malformations (CMs) often occur as multiple lesions. Nevertheless, the presence of a single CM does not exclude the familiarity. The aim of this study is to establish which patients who undergo surgery for a single cerebral cavernous malformation (CCM), with no family history at initial diagnosis, should be investigated for familiarity through genetic testing and counseling.MethodsEight families with 2 or more members affected by CCM have been studied. A control group of sporadic cases operated on, with no family history and followed up 10 years or more, was also included. Analyzed factors were patient age and sex, location, number and size of the lesions, associated developmental venous anomaly, presence of epileptic seizures, symptomatic hemorrhage, focal neurological deficits, and documented growth of the malformation and Ki67 MIB1 proliferation index.ResultsThe familial group of CCMs showed higher incidence of pediatric patients (P = 0.01), more frequent occurrence of multiple lesions (P = 0.0004), higher rate of large CCMs, and symptomatic hemorrhage; besides, all 3 cases with documented growth belonged to the familial group (14%). The expression of Ki67 MIB1 was positive in 79% of the familial cases versus 0% in the sporadic ones (P < 0.00001).ConclusionsPatients with CCM and no known family history at the time of the initial diagnosis who present specific features should be studied by genetic screening. The Ki67 MIB1 is a useful biomarker in favor of familial occurrence and may be studied in all patients with CMs to define the indication to the genetic tests.Copyright © 2021 Elsevier Inc. All rights reserved.

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