| Autor: |
Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. e.h.gerkes@umcg.nl., Fock JM; Department of Neurology, Child neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., den Dunnen WF; Department of Pathology and Medical Biology, Pathology division, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van der Lans CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoving EW; Department of Neurosurgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Fakkert IE; Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., Smith MJ; Manchester Centre for Genomic Medicine, Institute of Human Development, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK., Evans DG; Manchester Centre for Genomic Medicine, Institute of Human Development, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK., Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. |
| Abstrakt: |
Childhood meningiomas are rare. Recently, a new hereditary tumor predisposition syndrome has been discovered, resulting in an increased risk for spinal and intracranial clear cell meningiomas (CCMs) in young patients. Heterozygous loss-of-function germline mutations in the SMARCE1 gene are causative, giving rise to an autosomal dominant inheritance pattern. We report on an extended family with a pediatric CCM patient and an adult CCM patient and several asymptomatic relatives carrying a germline SMARCE1 mutation, and discuss difficulties in genetic counseling for this heritable condition. Because of the few reported cases so far, the lifetime risk of developing meningiomas for SMARCE1 mutation carriers is unclear and the complete tumor spectrum is unknown. There is no surveillance guideline for asymptomatic carriers nor a long-term follow-up recommendation for SMARCE1-related CCM patients as yet. Until more information is available about the penetrance and tumor spectrum of the condition, we propose the following screening advice for asymptomatic SMARCE1 mutation carriers: neurological examination and MRI of the brain and spine, yearly from diagnosis until the age of 18 and once every 3 years thereafter, or in between if there are clinical symptoms. This advice can also be used for long-term patient follow-up. More data is needed to optimize this proposed screening advice. |
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