NDLI: A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

Please wait, while we are loading the content...

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

Content Provider	PubMed Central
Author	Gerkes, E. H. Fock, J. M. Den, Dunnen W. F. A. Van, Belzen M. J. Lans, C. A. Van Der Hoving, E. W. Fakkert, I. E. Smith, M. J. Evans, D. G. Olderode-berends, M. J. W.
Abstract	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.
Related Links	http://dx.doi.org/10.1007/s10048-015-0472-y
Ending Page	89
Page Count	7
Starting Page	83
File Format	PDF
ISSN	13646745
e-ISSN	13646753
Journal	Neurogenetics
Volume Number	17
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-04-01
Access Restriction	Open
Rights Holder	Springer Berlin Heidelberg
Subject Keyword	Genetics(clinical) Genetics Cellular and Molecular Neuroscience Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

Familial Dyskinesia and Facial Myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

Expansion of antibody reactivity in the cerebrospinal fluid of multiple sclerosis patients – follow-up and clinical implications

Long-Term Follow-Up Result of Hydroxyurea Chemotherapy for Recurrent Meningiomas

A Swedish national follow-up programme for children and adolescents with myelomeningocele

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

Similar Documents

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

Familial Dyskinesia and Facial Myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

Expansion of antibody reactivity in the cerebrospinal fluid of multiple sclerosis patients – follow-up and clinical implications

Long-Term Follow-Up Result of Hydroxyurea Chemotherapy for Recurrent Meningiomas

A Swedish national follow-up programme for children and adolescents with myelomeningocele

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening