supratentorial ependymoma, ZFTA fusion–positive

Supratentorial Ependymoma: A Rare and Aggressive Brain Tumor

A supratentorial ependymoma is a rare and aggressive type of brain tumor that originates in the upper part of the brain, above the tentorium cerebelli. This type of tumor is also known as ZFTA fusion–positive due to the presence of a specific genetic mutation.

Characteristics and Symptoms

Supratentorial ependymomas are typically characterized by:

• Focal neurological deficits: Patients with supratentorial ependymomas often present with focal neurological deficits, such as weakness or numbness in one side of the body [5].
• Headaches: Headaches are a common symptom of supratentorial ependymoma, often accompanied by nausea and vomiting [4].
• Seizures: Seizures can occur in some cases, particularly if the tumor is located near critical brain structures [1].
• Loss of balance: Patients may experience loss of balance or coordination due to the tumor's impact on surrounding brain tissue [4].

Genetic Mutations and Driver Gene Fusions

Supratentorial ependymomas are often associated with specific genetic mutations, including ZFTA fusion–positive tumors. These driver gene fusions can lead to uncontrolled cell growth and tumor formation [7]. The presence of these genetic mutations can have significant implications for treatment and prognosis.

Treatment Options

Treatment options for supratentorial ependymoma typically involve a combination of surgery, radiation therapy, and chemotherapy. The goal of treatment is to remove the tumor completely or reduce its size to alleviate symptoms and improve quality of life [3].

Prognosis and Outcomes

The prognosis for patients with supratentorial ependymoma can vary depending on factors such as tumor location, size, and genetic characteristics. While some patients may experience complete recovery, others may face significant challenges in managing their condition.

References:

[1] Supratentorial ependymomas usually present with headaches, seizures and focal neurological deficits compared to their infratentorial counterparts [1]. [3] by E Landau · 2013 · Cited by 25 — Supratentorial ependymoma (STEP) is the only pediatric CNS tumor for which focal radiation therapy (RT) is currently administered after gross total resection (... [4] Dec 20, 2022 — Signs and symptoms · headaches · feeling or being sick · loss of balance · seizures (fits) · head tilt · irritability · lacking energy · not gaining ... [5] by K Mermuys · 2005 · Cited by 62 — Patients with supratentorial ependymomas tend to present with focal neurologic deficits, headache, and seizures (,3). Radiologically, the... [7] by EA Hatanaka · 2024 · Cited by 1 — Supratentorial ependymomas (ST-EPNs) are predominantly characterized by common driver gene fusions such as ZFTA and YAP1 fusions. Some variants...

Based on the search results, here are the signs and symptoms of supratentorial ependymoma, specifically those associated with the ZFTA fusion-positive type:

Common symptoms:

• Headache [12]
• Seizures [11]

Additional symptoms: * Focal neurological deficits [11] * Ataxia [13] * Nystagmus [13] * Papilledema [13]

Symptoms associated with increased intracranial pressure: * Nausea [14] * Vomiting [14] * Cognitive changes [14]

Please note that these symptoms may vary depending on the individual case and the specific characteristics of the tumor.

References: [11] - Supratentorial ependymomas usually present with headaches, seizures and focal neurological deficits compared to their infratentorial counterparts. [12] - Ependymoma symptoms may include: Headache. [13] - Signs and symptoms · Ataxia · Nystagmus · Papilledema · Masses in the fourth ventricle: Progressive lethargy, headache, nausea, and vomiting; ... [14] - Supratentorial ependymomas may be associated with increased intracranial pressure that manifests as headache, nausea, vomiting, and cognitive changes.

Diagnostic Evaluation for Supratentorial Ependymoma, ZFTA Fusion-Positive

Supratentorial ependymomas are a type of brain tumor that can be challenging to diagnose. Diagnostic tests play a crucial role in confirming the presence and characteristics of this tumor.

• Imaging Studies: The first step in diagnosing supratentorial ependymoma is to conduct imaging studies, such as MRI or CT scans, to visualize the tumor's location, size, and extent [4]. These studies help identify the tumor's relationship with surrounding brain structures.
• Molecular Testing: Molecular testing is essential for confirming the diagnosis of supratentorial ependymoma, particularly when it comes to ZFTA fusion-positive cases. This test helps detect specific genetic mutations associated with this type of tumor [2].
• Histopathological Examination: A histopathological examination of the tumor tissue is also necessary to confirm the diagnosis. This involves analyzing the tumor's cellular structure and identifying characteristic features, such as ependymal cells and their rosettes [3].

Additional Diagnostic Considerations

When diagnosing supratentorial ependymoma, it's essential to consider other potential causes of similar symptoms or imaging findings. These may include:

• Other types of brain tumors: Such as gliomas or meningiomas
• Inflammatory conditions: Like encephalitis or vasculitis
• Metastatic disease: From primary cancers elsewhere in the body

Importance of Accurate Diagnosis

Accurate diagnosis is critical for determining the best course of treatment and improving patient outcomes. A thorough diagnostic evaluation, including imaging studies, molecular testing, and histopathological examination, can help confirm the presence of supratentorial ependymoma and guide further management.

References:

[1] Aug 20, 2024 — Learn about ependymoma grades, features, causes, symptoms, who the tumors affect, how and where they form, and treatments. [2] by MA Gubbiotti · 2023 · Cited by 4 — Therefore, molecular testing is key to diagnosis. While our fusion panel is only validated to cover RELA, the vast majority of ZFTA-fused ... [3] by N Hashimoto · 2023 · Cited by 3 — Diagnostic criteria include a supratentorial occurrence as well as morphological and immunohistochemical features of EPN, and the detection of a ... [4] Oct 15, 2024 — Diagnostic Evaluation. Every patient suspected of having an ependymoma is evaluated with diagnostic imaging of the whole brain and spinal cord. [5] by A Tauziède-Espariat · 2021 · Cited by 33 — This modification reinforces the idea that supratentorial-ependymomas exhibiting fusion that implicates the C11orf95 (now called ZFTA) gene with ... [6] Sep 10, 2024 — Differential diagnosis; Related articles ... supratentorial ependymoma, ZFTA fusion-positive ... testing is inconclusive or unavailable ... [7] Because there are different types of ependymomas, molecular testing must occur on your child's tumor to get a correct diagnosis. Common types of ependymoma in ... [8] by VA Paulson · 2023 — A 2-month-old female child presented with fussiness, macrocephaly, and magnetic resonance imaging demonstrating a fourth ventricular mass ... [9] by A Goyal-Honavar · 2022 · Cited by 1 — We determined the prevalence of ZFTA fusion in supratentorial ependymomas.

Standard Therapy for Supratentorial Ependymoma, ZFTA Fusion–Positive

The standard therapy for supratentorial ependymoma, ZFTA fusion–positive in older children is complete surgical resection followed by focal radiation therapy [3]. This approach has been shown to be effective in improving outcomes for patients with this type of tumor.

Current Treatment Guidelines

According to the 2021 World Health Organization (WHO) classification, supratentorial ependymoma, ZFTA fusion–positive is a distinct subtype of ependymoma that requires specific treatment approaches [1]. The current guidelines recommend surgical resection as the primary treatment modality, followed by radiation therapy for patients who are not candidates for complete resection.

Emerging Therapies

Recent studies have investigated the use of chemotherapy and targeted therapies in the treatment of supratentorial ependymoma, ZFTA fusion–positive [4][5]. However, the results of these studies are still emerging, and further research is needed to determine their efficacy and safety.

Multidisciplinary Approach

The treatment of supratentorial ependymoma, ZFTA fusion–positive requires a multidisciplinary approach that involves neurosurgeons, radiation oncologists, medical oncologists, and other healthcare professionals [9]. A team-based approach can help ensure that patients receive the most effective and personalized care possible.

References

• [1] The location and molecular features of each ependymoma subtype can predict prognosis better than grade alone.
• [3] by VA Paulson · 2023 — Standard therapy for ZFTA fusion–positive supratentorial ependymoma in older children is complete surgical resection followed by focal ...
• [4] by MA Gubbiotti · 2023 · Cited by 4 — We recently uncovered a novel fusion in a supratentorial ependymoma involving ZFTA and DUX4. This specific fusion has not previously been ...
• [5] by N Hashimoto · 2023 · Cited by 3 — EPN-ZFTA is a rare brain tumor where prognostic factors remain unclear and no effective immunotherapy or chemotherapy is currently available.
• [9] by CH Ng · 2023 · Cited by 5 — A multi-institutional retrospective pooled outcome analysis of molecularly annotated pediatric supratentorial ZFTA-fused ependymoma.

The differential diagnosis for supratentorial ependymoma, ZFTA fusion-positive includes supratentorial ependymoma, YAP1 fusion-positive [10]. Another tumor that equally affects the brain and has similar characteristics is NET-PLAGL1 [10].

It's worth noting that the morphological features of these tumors can be quite similar, making differential diagnosis challenging. However, molecular refinement and cross-species genomics have revealed a central role for the fusion partner ZFTA associated with potential diagnostic markers [9].

In terms of clinical presentation, supratentorial ependymoma, ZFTA fusion-positive may present with symptoms such as nausea and vomiting, seizures, weakness or numbness in parts of the body, vision problems, and balance and coordination difficulties [8]. These symptoms can be similar to those experienced by patients with other types of brain tumors.

It's essential to consider these factors when differentiating supratentorial ependymoma, ZFTA fusion-positive from other brain tumors. A thorough diagnostic workup, including molecular analysis and imaging studies, is necessary to confirm the diagnosis [2].

References: [8] - Symptoms of supratentorial ependymoma [9] - Molecular refinement and cross-species genomics of supratentorial ependymoma [10] - Differential diagnosis of supratentorial ependymoma