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obsolete deletion of chromosome 22 associated meningioma

Description

Obsolescence of Deletion of Chromosome 22 Associated Meningioma

The concept of deletion of chromosome 22 associated meningioma has been largely superseded by more recent understanding and research in the field of neuro-oncology.

  • Historical context: In the past, deletion of chromosome 22 was considered a significant genetic abnormality associated with meningiomas (1). However, this notion has been refined over time as new studies have emerged.
  • Current understanding: The most consistent cytogenetic finding in meningiomas is still the loss of heterozygosity of chromosome 22, but its significance and implications are now better understood (5, 7).
  • Advances in research: Recent investigations have focused on other genetic alterations, such as mutations in the NF2 gene, which play a more critical role in meningioma development and progression (15).

Key points:

  • Deletion of chromosome 22 associated meningioma is no longer considered a distinct entity.
  • Loss of heterozygosity of chromosome 22 remains a significant genetic abnormality in meningiomas.
  • Recent research has emphasized the importance of other genetic alterations, such as NF2 gene mutations.

References:

(1) Tauziède-Espariat, A. (2023). Pediatric meningiomas: A review of the literature. [Cited by 8]

(5) Dunn, I. F. (2018). Meningioma genetics: A review of the current understanding. [Cited by 59]

(7) Tauziède-Espariat, A. (2023). Pathogenesis of pediatric meningiomas. [Cited by 8]

(15) Garcia-Robledo, J. E. (2021). Novel investigational therapeutics for meningioma treatment. [Cited by 2]

Additional Characteristics

  • Deletion of chromosome 22 associated meningioma has been largely superseded by more recent understanding and research in the field of neuro-oncology.
  • Loss of heterozygosity of chromosome 22 remains a significant genetic abnormality in meningiomas.
  • Recent research has emphasized the importance of other genetic alterations, such as NF2 gene mutations.

Signs and Symptoms

Common symptoms of meningiomas associated with monosomy of chromosome 22 include:

  • Headaches or seizures are common, as are subacutely progressive neurological deficits [1]
  • The most common symptoms of these tumors are headache and seizures [4]
  • Symptoms produced by increased ICP include headache, nausea, vomiting, exhaustion, imbalance, and blurred or double vision [7]

Additional symptoms may include:

  • Cranial nerve deficits such as hearing loss and facial pain [8]
  • Motor symptoms like tremors, rigidity, bradykinesia, gait disorders, and nonmotor symptoms like psychiatric symptoms (mood disorders, psychosis, memory issues, personality changes, anxiety) [2][10]

It's worth noting that:

  • The most common copy number change in WHO grade I meningioma is monosomy of chromosome 22, which results in single copy loss of the NF2 gene on chromosome 22 [9]
  • Pediatric meningiomas present with seizures and intracranial hypertension syndrome due to their supratentorial predilection [3]

References: [1] SE Fogh (2016) [2] S Matsuo (2021) [3] A Tauziède-Espariat (2023) [4] A PERKINS (2016) [7] Not specified [8] Not specified [9] SE Fogh (2016) [10] S Takeda (2024)

Additional Symptoms

  • Seizures
  • Headaches
  • Tremors
  • Imbalance
  • Hearing loss
  • Blurred or double vision
  • Personality changes
  • Psychiatric symptoms
  • Rigidity
  • Mood disorders
  • Facial pain
  • Motor symptoms
  • Psychosis
  • Subacutely progressive neurological deficits
  • Cranial nerve deficits
  • Gait disorders
  • Nonmotor symptoms
  • Memory issues
  • exhaustion
  • nausea
  • bradykinesia
  • vomiting
  • anxiety

Diagnostic Tests

Based on the provided context, it appears that there are several diagnostic tests and markers associated with the deletion of chromosome 22 in meningiomas.

  • Deletion/duplication analysis for NF2 and SMARCB1: This test is included in the diagnostic process for conditions related to the deletion of chromosome 22. [8]
  • Array-CGH (Comparative Genomic Hybridization): This technique has been used to analyze a large set of sporadic meningiomas for the presence of 22q macro-mutations, aiming to identify tumors carrying gene dosage alterations. [7]
  • Loss of one copy of chromosome 10: The loss of one copy of chromosome 10 was previously associated with histological grades II and III of meningioma. [12]

Additionally, it's worth noting that the deletion of chromosome 22 has been detected in various neoplasms, including ovarian carcinoma and meningioma. [5]

It seems that these diagnostic tests and markers are used to identify and characterize meningiomas associated with the deletion of chromosome 22.

References: [5] - The DNA copy number deletion interpreted as monosomy of chromosome 22 has been detected in various neoplasms such as ovarian carcinoma (48), meningioma (49), ... [7] - A large set of sporadic meningiomas were analyzed for presence of 22q macro-mutations using array-CGH in order to identify tumors carrying gene dosage ... [8] - Deletion/duplication analysis for NF2 and SMARCB1 is included in this test, as such mutations are a part of the mutation spectrum for these conditions. Deletion ... [12] - In accordance with this, the loss of one copy of these chromosomes was previously associated with histological grades II and III of meningiomas [17,20,22,30,41,45]. Based on the findings in a series of 24 cases, McNulty et al. concluded that the loss of chromosome 10 could be used as a diagnostic marker of grade III meningioma . However, we ...

Treatment

Current Treatment Options for Deletion of Chromosome 22 Associated Meningioma

While there are no standard effective medical treatments for aggressive high-grade meningiomas, including those associated with the deletion of chromosome 22, research has identified some potential therapeutic targets.

  • Hydroxyurea: This medication has been used to treat meningiomas refractory to surgery and radiation. However, its effectiveness in treating deletion of chromosome 22 associated meningioma is not well established [4].
  • Targeted therapies: Recent studies have shed light on emerging medical treatments for meningiomas, including targeted therapies that aim to inhibit specific molecular pathways involved in tumor growth [7]. These include:
    • mTORC1 inhibitors: Research has shown that mTORC1 is constitutively activated in NF2-associated meningioma. Inhibitors of this pathway may offer a potential therapeutic strategy [1].
    • EGFR inhibitors: The expression and activation of epidermal growth factor receptor (EGFR) have been investigated in meningiomas, with some studies suggesting that EGFR inhibitors may be effective in treating these tumors [11].

Future Directions

While these findings hold promise for the development of new treatments for deletion of chromosome 22 associated meningioma, further research is needed to confirm their efficacy and safety.

  • Clinical trials: Ongoing and future clinical trials will provide valuable insights into the effectiveness of targeted therapies in treating this type of meningioma.
  • Personalized medicine: The identification of specific molecular targets in meningiomas may enable personalized treatment approaches tailored to individual patients' needs.

References

[1] F Nigim et al. (2018). Emerging medical treatments for meningiomas: a review [2]. [4] WJ Sherman et al. (2013). Hydroxyurea in the treatment of meningiomas refractory to surgery and radiation [8]. [7] F Nigim et al. (2018). Shedding light on emerging medical treatments for meningiomas with a particular focus on new targets identified with genomic sequencing [1]. [11] Hilton et al. (2004). Expression and activation of epidermal growth factor receptor (EGFR) in meningiomas [26].

Recommended Medications

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Differential Diagnosis

Differential Diagnoses for Meningiomas Associated with Obsolete Deletion of Chromosome 22

Meningiomas are typically characterized by their homogeneous and marked enhancement on imaging studies. However, when considering the differential diagnosis for meningiomas associated with obsolete deletion of chromosome 22, several other conditions come to mind.

  • Hemangiopericytoma: This is a rare type of tumor that can be difficult to distinguish from meningioma based solely on imaging characteristics. Immunohistochemistry may be necessary to confirm the diagnosis.
  • Mesenchymal tumors: These are a group of tumors that arise from connective tissue and can have overlapping features with meningiomas. Again, immunohistochemistry may be required for accurate diagnosis.
  • Other dural-based lesions: Meningiomas often present as dural-based lesions, but other conditions such as schwannomas or neurofibromas can also exhibit similar characteristics.

Key Features to Consider

When attempting to differentiate these conditions from meningioma associated with obsolete deletion of chromosome 22, the following features should be taken into account:

  • Imaging characteristics: While meningiomas are typically homogeneous and show marked enhancement, other conditions may have distinct imaging features that can aid in diagnosis.
  • Patient demographics: Certain conditions are more prevalent in specific age groups or populations, which can provide clues for differential diagnosis.
  • Genetic mutations: The presence of specific genetic mutations, such as those associated with neurofibromatosis type 2, can also inform the differential diagnosis.

References

For a comprehensive understanding of these conditions and their differential diagnoses, refer to the following sources:

  1. Tauziède-Espariat A, et al. (2023). Pediatric meningiomas: A review of the literature. [Citation]
  2. Fogh SE, et al. (2016). The most common copy number change in WHO grade I meningioma is monosomy of chromosome 22. [Citation]
  3. Mechtler LL, et al. Loss of one copy of chromosome 22 is most prevalent chromosomal change in meningioma. [Citation]

These sources provide valuable insights into the differential diagnoses for meningiomas associated with obsolete deletion of chromosome 22 and can aid in accurate diagnosis and management.

Additional Information

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