J Neurol Surg B Skull Base 2016; 77 - FP-22-01
DOI: 10.1055/s-0036-1592548

Genetic Predisposition in Young Patients with Solitary Meningiomas

Omar N. Pathmanaban 1, Miriam J. Smith 1, Ian D. Kamaly-Asl 1, John-Paul Kilday 1, D. Gareth Evans 1, Andrew T. King 1
  • 1Department of Neurosurgery, Manchester Academic Health Science Centre, Salford Royal Hospital, Manchester, United Kingdom

Objective: Meningiomas account for more than one-third of nervous system tumors and most commonly occur as sporadic, isolated tumors over the age of 60. Multiple meningiomas are frequently caused by germline mutation of the NF2 gene. In addition, germline mutation of SMARCE1, was recently shown to predispose to clear cell meningiomas in young patients. Meningiomas are much less common in children than adults. In our database of individuals with de novo NF2 disease with symptomatic presentation under the age of 25, 24/295 (8%) had an initial apparent sporadic meningioma. We aimed to assess the proportion of children and young adults, presenting with a solitary meningioma, who have a germline predisposition mutation.

Methods: We studied lymphocyte DNA of 61 individuals, without a family history of meningioma, who developed a solitary meningioma before age 25. There were 37 cranial meningioma patients, 22 spinal meningioma patients and 2 unspecified locations. We screened for germline mutations in NF2, SMARCB1, SMARCE1, and SUFU.

Results: 24/61 (39%) had a germline NF2 mutation (8 cranial, 16 spinal). 5 of the identified NF2 mutations were mosaic (1 cranial, 4 spinal). Germline SMARCE1 mutation was identified in 9/61 (15%; 5 cranial, 4 spinal). The remaining 28 people had no identified mutations in any of the known causative predisposition genes. No germline SMARCB1 or SUFU mutations were identified. Overall 54% of individuals <25yrs with a solitary meningioma had a germline mutation in a predisposition gene.

Conclusion: Genetic testing is necessary in children and young adults presenting with a meningioma.