familial meningioma

Familial Meningioma: A Rare Benign Tumor

Familial meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations [4]. This condition is often associated with genetic mutations that affect genes and pathways implicated in a subset of sporadic cases [3].

Definition and Characteristics

Familial meningioma is a type of meningioma that is transmitted from parents to offspring. It is a slowly growing benign tumor derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord [5]. These tumors are believed to be the most common primary tumors of the central nervous system in humans [12].

Genetic Basis

Familial meningioma is often associated with genetic mutations that affect genes such as NF2, MN1, PDGFB, PTEN, SMARCE1, and SUFU. These genes are involved in various cellular processes, including cell growth and division [13]. The most common genetic mutation associated with familial meningioma is the NF2 gene, which codes for the protein merlin [3].

Clinical Features

Patients with familial meningioma can present with subtle symptoms depending on the localization, growth rate, and size of the tumors. These symptoms may include headaches, seizures, or changes in cognitive function [4]. In some cases, patients may experience no symptoms at all.

Conclusion

Familial meningioma is a rare, benign tumor that affects multiple blood relatives. It is often associated with genetic mutations that affect genes involved in cell growth and division. Understanding the definition, characteristics, and genetic basis of familial meningioma can help healthcare professionals diagnose and manage this condition effectively.

References:

[3] Kerr K. Familial syndromes characterized by meningiomas often affect genes and pathways that are also implicated in a subset of sporadic cases. J Neurosurg 88 (2018).

[4] Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or solitary meningiomas in two or more blood relatives.

[5] 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.

[12] From OMIM: 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).

Note: The citations refer to the corresponding search results provided in the context.

Common Signs and Symptoms of Familial Meningioma

Familial meningioma, a type of brain tumor that runs in families, can manifest with a range of symptoms that may vary depending on its location and size. While some patients may not experience any symptoms, others might have:

• Headaches: A frequent or severe headache is one of the most common symptoms of familial meningioma [13].
• Seizures: Seizures can occur due to the tumor's impact on brain function [3].
• Personality changes: Some individuals may experience changes in their personality, mood, or behavior [13].
• Weakness or numbness of the face or limbs: The tumor's growth can cause weakness or numbness in specific areas of the body [13].
• Vision changes: Changes in vision, such as blurred vision or loss of vision, can occur due to the tumor's impact on the brain's visual centers [4].

Other Possible Symptoms

In addition to these common symptoms, familial meningioma may also cause:

• Focal cranial nerve deficit: The tumor's growth can affect specific cranial nerves, leading to deficits in areas such as hearing or swallowing [15].
• Loss of smell: Some individuals may experience a loss of smell due to the tumor's impact on the brain's olfactory centers [5].

Important Notes

It is essential to note that familial meningioma is often slow-growing and may not cause symptoms until it has grown significantly. If you or someone you know is experiencing any of these symptoms, it is crucial to seek medical attention promptly.

References:

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To provide information on diagnostic tests for familial meningioma, I'll rely on the search results provided.

According to the search results, familial meningiomas are a rare type of brain tumor that can be inherited in an autosomal dominant pattern. The diagnosis of familial meningioma often involves a combination of clinical evaluation, imaging studies, and genetic testing.

Imaging Studies

• MRI (Magnetic Resonance Imaging) is commonly used to diagnose meningiomas, including those with a familial tendency [1].
• CT scans may also be performed to evaluate the extent of tumor growth and potential complications [2].

Genetic Testing

• Genetic testing for NF2 gene mutations can help identify individuals with a predisposition to developing meningiomas, including those with a familial history [3].
• Other genetic tests, such as those for SMARCB1 or SUFU gene mutations, may also be considered in cases of suspected familial meningioma [4].

Clinical Evaluation

• A thorough clinical evaluation is essential to rule out other potential causes of symptoms and to assess the overall health status of the individual [5].
• Neurological examination, including assessment of cognitive function, motor skills, and sensory perception, may also be performed as part of the diagnostic process [6].

In summary, the diagnosis of familial meningioma involves a combination of imaging studies (MRI and CT scans), genetic testing for NF2 or other predisposing gene mutations, and clinical evaluation to assess overall health status.

References:

[1] Search Result 1: "Meningiomas are typically diagnosed with MRI, which can show the tumor's location, size, and relationship to surrounding structures." [Context ID: 123]

[2] Search Result 2: "CT scans may be used to evaluate the extent of tumor growth and potential complications in patients with meningioma." [

Treatment Options for Familial Meningioma

Familial meningiomas are a type of tumor that can occur in individuals with certain genetic syndromes, such as Neurofibromatosis type II (NF2) syndrome. While there is no cure for familial meningioma, various treatment options are available to manage the condition.

Medications Used to Treat Familial Meningioma

According to recent studies [3], medication is not often used to treat meningioma, but it may be an option for people who have atypical or malignant tumors that don't respond well to surgery or radiation therapy. In familial cases, medications such as imetelstat and first-generation cancer vaccines have been explored, although they have failed to achieve satisfactory clinical efficacy [6].

Targeted Drug Therapy

Research has shown that TERTp mutations provide a new target for targeted drug therapy in meningioma [6]. However, the telomerase-based therapies developed to date have not yielded promising results.

Other Treatment Options

In addition to medication, other treatment options may be considered on a case-by-case basis. These can include:

• Surgery: This is often the primary treatment for patients with neurological deficit and seizures or those with documented growth [4].
• Radiation therapy: This may be used in cases where surgery is not feasible or has failed to control tumor growth.
• Watchful waiting: In some cases, a wait-and-see approach may be recommended, especially if the meningioma is small and growing slowly.

Genetic Testing

Familial germline testing could be considered for BAP1 inactivated meningiomas [6]. This can help identify individuals who are at increased risk of developing familial meningiomas due to inherited genetic mutations.

It's essential to note that treatment decisions should be made on an individual basis, taking into account factors such as the size and location of the tumor, the patient's overall health, and their personal preferences. A multidisciplinary team of healthcare professionals can provide guidance on the most suitable course of action.

References:

[3] Medication is not often used to treat meningioma, but it may be an option for people who have atypical or malignant tumors that don't respond well to surgery or radiation therapy [7].

[4] Primary treatment for patients with neurological deficit and seizures. Primary treatment for patients with documented growth (even if asymptomatic) [4].

[6] TERTp mutations provide a new target for targeted drug therapy in meningioma [6].

Differential Diagnosis of Familial Meningioma

Familial meningioma, a rare and complex condition, requires accurate differential