Review articleGermline and somatic mutations in meningiomas
Section snippets
NF2
Germline mutation of the NF2 gene is the most commonly identified genetic risk factor for multiple meningioma disease. Multiple meningiomas often occur as part of the NF2 tumor suppressor syndrome. Germline NF2 mutations are detectable in over 90% of all cases of nonmosaic NF2 disease and confer a significant risk of meningiomas, with approximately 50% of people with NF2 developing at least one intracranial meningioma during their lifetime. The presence of intracranial meningiomas in NF2 is
Conclusion
Meningiomas are a diverse group of tumors with varied histology and growth patterns. The heterogeneity in germline and somatic mutations indicates a complex network of pathway interactions involving the SHH-GLI1 and AKT1-MTOR signaling pathways, which require further investigation. Further studies are also needed to understand the role of chromatin remodeling factors in these pathways and how the meningioma-associated mutations lead to tumor formation. Categorization by of meningiomas by
Acknowledgments
M.J.S. is currently funded by a Drug Discovery Initiative grant (2014A-05-016) and a Schwannomatosis Award (2014-02-001) from the Children's Tumor Foundation.
References (80)
- et al.
Multiple meningiomas: a clinical, surgical, and cytogenetic analysis
Surg Neurol
(1989) - et al.
Loss of SUFU function in familial multiple meningioma
Am J Hum Genet
(2012) - et al.
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers
Am J Hum Genet
(1999) - et al.
Germline mutation of INI1/SMARCB1 in familial schwannomatosis
Am J Hum Genet
(2007) - et al.
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors
Cancer Genet
(2014) - et al.
Identification and characterization of a gene encoding a gut-enriched Kruppel-like factor expressed during growth arrest
J Biol Chem
(1996) - et al.
A gene for a novel zinc-finger protein expressed in differentiated epithelial cells and transiently in certain mesenchymal cells
J Biol Chem
(1996) - et al.
Kruppel-like factor 4 inhibits proliferation by platelet-derived growth factor receptor beta-mediated, not by retinoic acid receptor alpha-mediated, phosphatidylinositol 3-kinase and ERK signaling in vascular smooth muscle cells
J Biol Chem
(2009) - et al.
Genetic and epigenetic inactivation of Kruppel-like factor 4 in medulloblastoma
Neoplasia
(2010) - et al.
MiR-152 functions as a tumor suppressor in glioblastoma stem cells by targeting Kruppel-like factor 4
Cancer Lett
(2014)
TRAF7 potentiates MEKK3-induced AP1 and CHOP activation and induces apoptosis
J Biol Chem
CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2006-2010
Neuro Oncol
The 2007 WHO classification of tumours of the central nervous system
Acta Neuropathol
Intracranial meningiomas of atypical (WHO grade II) histology
J Neurooncol
Growth pattern changes of meningiomas: long-term analysis
Neurosurgery
Long-term natural history of neurofibromatosis Type 2-associated intracranial tumors
J Neurosurg
CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2007-2011
Neuro Oncol
Spinal cord meningioma
J Neurosurg
Spinal meningiomas: review of 174 operated cases
Neurosurgery
Les recepteurs de steroides de meningiomes intracraniens
Neurochirurgie
Spinal meningiomas in patients younger than 50 years of age: a 21-year experience
J Neurosurg
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset
J Med Genet
Central nervous system meningiomas in the first two decades of life: a clinicopathological analysis of 87 patients
J Neurosurg
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
Nat Genet
Meningiomas in pregnancy: a clinicopathologic study of 17 cases
Neurosurgery
Estrogen and progesterone receptors in meningiomas
J Neurosurg
Female predominance in meningiomas can not be explained by differences in progesterone, estrogen, or androgen receptor expression
J Neurooncol
Multiple meningiomas: differential involvement of the NF2 gene in children and adults
J Med Genet
Evidence for clonal spread in the development of multiple meningiomas
J Neurosurg
Clonality of multiple meningiomas
J Neurosurg
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas
J Med Genet
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas
J Pathol
Purification and biochemical heterogeneity of the mammalian SWI-SNF complex
Embo J
Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes
Proc Natl Acad Sci U S A
Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy
Nat Genet
Novel mutations target distinct subgroups of medulloblastoma
Nature
ARID1A mutations in endometriosis-associated ovarian carcinomas
N Engl J Med
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
Nature
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors
Cancer Res
Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway
Nat Med
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Primary Benign Tumors of the Spinal Canal
2022, World NeurosurgeryCitation Excerpt :Meningiomas also occur in a minority (5%) of individuals with schwannomatosis, an uncommon cancer predisposition syndrome caused by mutations in SMARCB1 and, less frequently, SMARCE1.32 In other cases, the occurrence of familial multiple meningiomas outside of the context of the diseases NF2 and schwannomatosis may be explained by mosaic NF2 syndrome with no mutation identified in blood; clonal spread of a single sporadic tumor; or other hereditary cancer predisposition syndromes such as von Hippel-Lindau disease, multiple endocrine neoplasia type 1, Li-Fraumeni, Cowden disease, Werner syndrome, and Gorlin syndrome.32 The clinical features of benign spinal meningioma are listed in Table 1.
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2021, Seminars in Diagnostic PathologyCitation Excerpt :Patients usually have multiple schwannomas at presentation. Approximately 5% of reported schwannomatosis patients developed meningiomas.73 The meningiomas found in patients with germline SMARCB1 mutation have a clear location preference near the falx cerebri, particularly the anterior third, with frequent infiltration of superior or inferior sagittal sinuses.71
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