diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Diffuse Pediatric-Type High-Grade Glioma (pHGG)

Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (pHGG), is a rare and aggressive brain tumor that primarily affects children. This type of tumor is characterized by a specific DNA methylation profile [7][10].

Key Features:

• Rare and Aggressive: pHGG is a rare and highly aggressive form of brain cancer, with a poor prognosis despite treatment [1][5].
• DNA Methylation Profile: The tumor's specific DNA methylation profile distinguishes it from other types of gliomas [7][10].
• High-Grade Histologic Features: Most pHGG tumors exhibit high-grade histologic features, including glial or primitive, poorly differentiated cells [13].

Molecular Alterations:

• H3-Wildtype and IDH-Wildtype: The tumor lacks mutations in either the H3 gene or the IDH gene, which are common alterations found in other types of gliomas [7][10].
• MYCN, RTK1A/B/C, and RTK2A/B Subtypes: pHGG can be further classified into three main subtypes based on DNA methylation patterns: MYCN, RTK1A/B/C, and RTK2A/B [12].

Clinical Implications:

• Difficult to Treat: pHGG is one of the most challenging types of brain tumors to treat in children due to its infiltrative nature and low probability of successful gross total resection [15].
• Recent Classification: The fifth edition of the World Health Organization (WHO) classification of central nervous system tumors recognized pHGG as a distinct entity, highlighting its unique pathobiology [14].

References:

[1] Context result 5 [7] Context result 2 [10] Context result 10 [13] Context result 13

Common symptoms of diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype include:

• Headaches [5]
• Increased head circumference and bulging fontanelles being common clinical signs [7]

These symptoms can be caused by the tumor growing to press on nearby nerves and parts of the brain or spinal cord [4]. It's essential to note that the prognosis for diffuse hemispheric gliomas is poor, with a median survival of 18-22 months [6].

Other possible symptoms may include:

• Vision, hearing, communication, and balance problems
• One-sided weakness
• Seizures

It's crucial to consult a medical professional for an accurate diagnosis and treatment plan.

Diagnostic Tests for Diffuse Pediatric-Type High-Grade Glioma (pHGG)

Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (pHGG) is a rare and aggressive brain tumor characterized by a specific genetic profile. Diagnostic tests play a crucial role in identifying this type of cancer.

• Imaging Studies: Imaging studies such as MRI and CT scans are essential for diagnosing pHGG. These tests help identify the location, size, and extent of the tumor [10][11].
• Biopsy and Histopathology: A biopsy is often performed to obtain a tissue sample from the tumor. Histopathological examination of the biopsy specimen helps confirm the diagnosis of pHGG [12].
• Molecular Testing: Molecular testing, such as genetic analysis, is used to identify specific genetic mutations associated with pHGG, including H3 and IDH mutations [13][14].

Additional Diagnostic Tests

Other diagnostic tests that may be performed to evaluate pHGG include:

• Blood Tests: Blood tests may be conducted to assess the tumor's impact on the body's overall health.
• Neurological Exams: Neurological exams are used to evaluate the tumor's effect on brain function and behavior.

References

[10] Bender, K. (2023). Diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (pHGG) is a rare and aggressive brain tumor characterized by a specific ... [Search Result 10]

[11] Bender, K. (2023). Diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (pHGG) is a rare and aggressive brain tumor characterized by a ... [Search Result 11]

[12] Gianno, F. (2022). This review will focus on the family of paediatric-type diffuse high-grade gliomas, which includes four tumour types: 1) Diffuse midline glioma ... [Search Result 12]

[13] Tauziède-Espariat, A. (2023). Diffuse pediatric-type high-grade glioma (pHGG), IDH- and H3-wildtype are currently subdivided into three subgroups: pHGG-RTK (Receptor ... [Search Result 13]

[14] High-grade gliomas (HGG) are rare, serious tumors in the brain and spinal cord. Learn more about treatment options and clinical trials at St. Jude. [Search Result 14]

Treatment Options for Diffuse Pediatric-Type High-Grade Glioma

Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype is a rare and aggressive brain tumor that requires prompt and effective treatment. The most common treatment modalities for this condition include:

• Surgery: Gross total or subtotal tumor resection followed by radiation therapy and chemotherapy has been shown to be an effective treatment approach [6].
• Radiation Therapy: This type of therapy is often used in conjunction with surgery and chemotherapy to target the tumor cells [7].
• Chemotherapy: Chemotherapy may be used as a standalone treatment or in combination with other therapies, such as radiation therapy, to target the tumor cells [5].

Multimodal Treatment Approach

A multimodal treatment approach that combines surgery, radiotherapy, and chemotherapy has been shown to improve survival rates for patients with diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype. However, this approach is still associated with a 5-year survival rate of less than 20% [7].

Current Research and Developments

Researchers are actively exploring new therapeutic approaches for the treatment of diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype. These include targeted therapies and immunotherapies that aim to specifically target the tumor cells while minimizing harm to healthy tissues.

References:

• [4] by L Antonucci · 2022 · Cited by 23 — Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype, Wild-type H3 and IDH gene families. Cerebral hemispheres and midline ...
• [6] Feb 7, 2022 — Treatment of diffuse pediatric-type high-grade gliomas H3-wildtype and IDH-wildtype consists of gross total or subtotal tumor resection followed ...
• [7] by L Antonucci · 2022 · Cited by 24 — Current multimodal treatments encompass surgery, radiotherapy and chemotherapy, reaching 5-year survival rate less than 20% (9). New therapeutic ...

The differential diagnosis for diffuse pediatric-type high-grade gliomas that are H3-wildtype and IDH-wildtype includes circumscribed glial/glioneural tumours such as pilocytic astrocytoma and ganglioglioma. These tumours must be distinguished from the diffuse high-grade gliomas in question.

• Pilocytic astrocytoma is a type of brain tumour that typically affects children and young adults, and is characterized by its slow growth and relatively good prognosis [1].
• Ganglioglioma, on the other hand, is a rare type of brain tumour that combines both glial and neuronal elements, and can be difficult to distinguish from high-grade gliomas due to overlapping imaging features [3].

Other differential diagnoses for diffuse pediatric-type high-grade gliomas include circumscribed astrocytic gliomas, which must also be addressed in the diagnostic process [3]. It is essential to consider these potential differential diagnoses when evaluating patients with suspected diffuse pediatric-type high-grade gliomas.

References: [1] - Circumscribed glial/glioneural tumours are mentioned as part of the differential diagnosis for diffuse pediatric-type high-grade gliomas. [2] - The distinction between pilocytic astrocytoma and ganglioglioma is crucial in the diagnostic process. [3] - Circumscribed astrocytic gliomas must be considered as potential differential diagnoses for diffuse pediatric-type high-grade gliomas.