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Familial meningioma

MedGen UID:
764829
Concept ID:
C3551915
Finding
Synonym: Meningioma, familial, susceptibility to
 
Genes (locations): MN1 (22q12.1); NF2 (22q12.2); PDGFB (22q13.1); PTEN (10q23.31); SMARCE1 (17q21.2); SUFU (10q24.32)
 
Monarch Initiative: MONDO:0011789
OMIM®: 607174

Disease characteristics

Excerpted from the GeneReview: MN1 C-Terminal Truncation Syndrome
Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and small low-set ears), and distinctive findings on brain imaging (including perisylvian polymicrogyria and atypical rhombencephalosynapsis). Mild-to-moderate prelingual hearing loss (usually bilateral, conductive, and/or sensorineural) is common. Generalized seizures (observed in the minority of individuals) are responsive to anti-seizure medication. There is an increased risk for craniosynostosis and, thus, increased intracranial pressure. To date, 25 individuals with MCTT syndrome have been identified. [from GeneReviews]
Authors:
Christopher CY Mak  |  Jasmine LF Fung  |  Mianne Lee, et. al.   view full author information

Additional descriptions

From OMIM
Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001). Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; 613028) associated with a mutation in the PTEN gene (601728) developed a meningioma (Staal et al., 2002).  http://www.omim.org/entry/607174
From MedlinePlus Genetics
MN1 C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.

Most people with MCTT syndrome have mild to moderate intellectual disability. Many affected individuals are nonverbal, but some have speech limited to one or two words or communicate using sign language. Most children with this condition have delayed development of motor skills, such as crawling or walking, but are able to walk by age 2 or 3. However, they often need help with fine-motor skills, such as getting dressed or using a fork when eating.

Individuals with MCTT syndrome often have distinctive facial features that include a sunken appearance of the middle of the face (midface hypoplasia); a high arch in the roof of the mouth (high-arched palate); outside corners of the eyes that point downward (downslanting palpebral fissures); widely spaced eyes (hypertelorism ); shallow and bulging eyes (exophthalmos); a short, upturned nose; and small, low-set ears. Some affected individuals have dental abnormalities, such as cone-shaped (conical ), jagged, or crowded teeth. Rarely, people with MCTT syndrome have premature fusion of certain skull bones (craniosynostosis).

People with MCTT syndrome often have characteristic brain abnormalities. The surface of the brain normally has many ridges or folds, called gyri. A common brain abnormality in people with MCTT syndrome is called perisylvian polymicrogyria, in which an area of the brain called the perisylvian region develops too many gyri, and the folds are irregular and unusually small. Individuals with MCTT syndrome can also have a malformation of the part of the brain that coordinates movement (the cerebellum ). This malformation, called atypical rhombencephalosynapsis, is characterized by tissue loss in the central part of the cerebellum (known as the vermis) and fusion of the two sides of the cerebellum. These brain abnormalities likely contribute to the movement problems and intellectual disability that are common in MCTT syndrome. 

Less common features of MCTT syndrome include hearing loss, seizures, abnormal curvature of the spine, and heart abnormalities.  https://medlineplus.gov/genetics/condition/mn1-c-terminal-truncation-syndrome

Clinical features

From HPO
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.

Recent clinical studies

Etiology

Shaw A
Recent Results Cancer Res 2016;205:17-27. doi: 10.1007/978-3-319-29998-3_2. PMID: 27075346
Babaei M, Fallah M, Sundquist K, Hemminki K
Cancer Epidemiol 2015 Jun;39(3):334-9. Epub 2015 Mar 19 doi: 10.1016/j.canep.2015.03.004. PMID: 25799913

Diagnosis

Shaw A
Recent Results Cancer Res 2016;205:17-27. doi: 10.1007/978-3-319-29998-3_2. PMID: 27075346
Garaci F, Marsili L, Riant F, Marziali S, Cécillon M, Pasquarelli R, Sangiuolo F, Floris R, Novelli G, Tournier-Lasserve E, Brancati F
Neuroradiol J 2015 Jun;28(3):289-93. doi: 10.1177/1971400915591688. PMID: 26246098Free PMC Article

Clinical prediction guides

Pulst SM, Rouleau GA, Marineau C, Fain P, Sieb JP
Neurology 1993 Oct;43(10):2096-8. doi: 10.1212/wnl.43.10.2096. PMID: 8413972

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Central Nervous System Cancers, 2023
    • NICE, 2021
      UK NICE Guideline NG99, Brain tumours (primary) and brain metastases in over 16s, 2021

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