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Topics {✒️}

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Questions {❓}

• How to screen?
• What to screen?
• Who to screen?
• Why to screen?

Schema {🗺️}

WebPage:
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         headline:A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening
         description: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.
         datePublished:2016-01-23T00:00:00Z
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            Clear cell meningioma
            Germline
            Tumor predisposition syndrome
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            Hereditary
            Neurology
            Neurosciences
            Human Genetics
            Molecular Medicine
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      headline:A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening
      description: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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      dateModified:2016-01-23T00:00:00Z
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      pageEnd:89
      sameAs:https://doi.org/10.1007/s10048-015-0472-y
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          SMARCE1
         Clear cell meningioma
         Germline
         Tumor predisposition syndrome
         Childhood
         Hereditary
         Neurology
         Neurosciences
         Human Genetics
         Molecular Medicine
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      name:Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
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