RELA fusion-positive ependymoma

What is RELA Fusion-Positive Ependymoma?

RELA fusion-positive ependymoma is a rare type of brain tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults [1, 3, 11, 13].

Key Features:

• Typically affects children and young adults
• Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common [1, 3, 11, 13]
• Can present with focal neurological deficits, seizures, or features of raised intracranial pressure

Prognosis:

RELA fusion-positive ependymoma carries a poor prognosis, and ependymomas, in general, are resistant to chemotherapy [4]. The RELA fusion subtype has remarkably worse survival than that of the YAP1 fusion group [14].

Classification:

This tumor entity is classified as a supratentorial ependymoma characterized by a RELA gene rearrangement. It accounts for the majority of supratentorial ependymomas in children and has an unfavorable outcome when compared to other ependymoma subtypes [12, 15].

Detection:

RELA fusion can be detected via reverse transcriptase–polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), or RNA sequencing [14, 15].

Signs and Symptoms of RELA Fusion-Positive Ependymoma

RELA fusion-positive ependymomas are a type of brain tumor that can cause various symptoms, depending on their location and size. Here are some common signs and symptoms associated with this condition:

• Headache: A headache is one of the most common symptoms of ependymoma, including RELA fusion-positive tumors [6].
• Ataxia: Ataxia, which refers to a lack of muscle coordination, can be a symptom of supratentorial ependymomas, including those that are RELA fusion-positive [4].
• Nystagmus: Nystagmus, or involuntary eye movements, can also be a sign of ependymoma, including RELA fusion-positive tumors [4].
• Papilledema: Papilledema, which is swelling of the optic disc, can indicate increased intracranial pressure and may be associated with RELA fusion-positive ependymomas [8].

It's worth noting that symptoms can vary depending on the location and size of the tumor. For example, if an ependymoma is near the brainstem, symptoms may include neck pain, crossed eyes, balance problems, and difficulty walking [2]. If you or someone you know has been diagnosed with RELA fusion-positive ependymoma, it's essential to work closely with a healthcare provider to manage symptoms and develop a treatment plan.

References:

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Diagnostic Evaluation for RELA Fusion-Positive Ependymoma

RELA fusion-positive ependymomas are a type of brain tumor characterized by the presence of a RELA fusion gene. Diagnosing this condition requires a comprehensive evaluation, including various diagnostic tests.

• Imaging Studies: Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) scans are crucial in diagnosing ependymomas, including those with a RELA fusion gene [4]. These imaging studies can show the tumor and surrounding brain tissue.
• Genetic Testing: Genetic testing is essential to confirm the presence of a RELA fusion gene in the tumor cells. This test can help identify the specific genetic mutation responsible for the ependymoma [6].
• Fluorescence In Situ Hybridization (FISH): FISH analysis can also be used to detect the RELA fusion gene in tumor cells [1, 6]. This test is particularly useful when genetic testing is not available.
• Diagnostic Imaging of the Whole Brain and Spinal Cord: Every patient suspected of having an ependymoma should undergo diagnostic imaging of the whole brain and spinal cord to rule out any other potential conditions [7].

It's essential to note that a combination of these diagnostic tests can provide a comprehensive evaluation for RELA fusion-positive ependymoma. A thorough diagnosis is crucial in determining the best course of treatment.

References: [1] by M Pagès · 2019 · Cited by 78 — In RELA-fused ependymoma, the DNA methylation-based classification failed to diagnose with certainty two tumors (#21 and #22) (Table 1). FISH analysis of tumor ... [4] The key to diagnosing ependymomas is imaging. Computed tomography (CT) and magnetic resonance imaging (MRI) scans can show the tumor and surrounding brain ... [6] by M Pagès · 2019 · Cited by 78 — In RELA-fused ependymoma, the DNA methylation-based classification failed to diagnose with certainty two tumors (#21 and #22) (Table 1). FISH ... [7] Oct 15, 2024 — Diagnostic Evaluation. Every patient suspected of having an ependymoma is evaluated with diagnostic imaging of the whole brain and spinal cord.

Treatment Options for RELA Fusion-Positive Ependymoma

RELA fusion-positive ependymoma is a rare and aggressive form of brain cancer that requires prompt and effective treatment. While surgical resection and radiotherapy are the primary treatments, there are emerging evidence on the use of certain drugs to manage this condition.

VAL-083 as a Treatment Option

According to recent studies [6][8], VAL-083 may be a viable treatment option for recurrent RELA fusion-positive ependymoma refractory to temozolomide-based regimens. This is highlighted in case reports and small series, where patients have shown radiological stability and no central nervous system (CNS) dissemination after 12 months of treatment [6].

Other Treatment Options

While VAL-083 shows promise, the standard treatment for ependymoma remains surgical resection and radiotherapy [7]. The outcome of ependymomas does not follow grade but is influenced by location and resectability. Ependymomas are divided into three groups according to their location: supratentorial (ST), posterior fossa (PF), and spinal cord (SC) [7].

Emerging Research

Researchers are actively exploring new treatment options for RELA fusion-positive ependymoma, including the use of oral drug combinations. A recent clinical trial demonstrated the efficacy of an oral drug combination in adults with ependymoma [5]. Furthermore, studies on the C11ORF95-RELA oncogenic fusion are underway to understand its role in cancer development and identify potential therapeutic targets [4].

Conclusion

While surgical resection and radiotherapy remain the primary treatments for RELA fusion-positive ependymoma, emerging evidence suggests that VAL-083 may be a viable treatment option for recurrent cases. Ongoing research is focused on identifying new therapeutic targets and developing effective treatment strategies for this aggressive form of brain cancer.

References:

[4] Kamiya-Matsuoka C (2022) - This case highlights that VAL-083 may be a treatment option for recurrent RELA fusion-positive ependymoma refractory to temozolomide-based regimens. [5] New Drug Approvals FDA Approves Imkeldi (imatinib) Oral Solution for the Treatment of Certain Forms of Leukemia and Other Cancers. Medical News Stroke Guidelines Updated, With Focus on Women and GLP-1s. Drugs.com is the most popular, comprehensive and up-to-date source of drug information online. [6] Kamiya-Matsuoka C (2022) - This case highlights that VAL-083 may be a treatment option for recurrent RELA fusion-positive ependymoma refractory to temozolomide-based regimens. [7] You are being redirected · Javascript is required. Please enable javascript before you are allowed to see this page [8] Kamiya-Matsuoka C (2022) - This case highlights that VAL-083 may be a treatment option for recurrent RELA fusion-positive ependymoma refractory to temozolomide-based regimens.

Differential Diagnosis of RELA Fusion-Positive Ependymoma

RELA fusion-positive ependymoma is a type of brain tumor that can be challenging to diagnose due to its similarity in appearance with other types of tumors. The differential diagnosis for this condition includes:

• Meningioma: A type of brain tumor that arises from the meninges, the protective membranes surrounding the brain and spinal cord. Meningiomas are often misdiagnosed as ependymomas due to their similar appearance on imaging studies [4].
• Subependymoma: A rare type of brain tumor that arises from the subependymal region, a layer of tissue beneath the ependyma. Subependymomas can be difficult to distinguish from RELA fusion-positive ependymomas based solely on imaging studies [10].
• Myxopapillary ependymoma: A rare type of brain tumor that arises from the filum terminale, a thin cord of tissue at the end of the spinal cord. Myxopapillary ependymomas can be challenging to diagnose due to their similarity in appearance with RELA fusion-positive ependymomas [10].

Imaging Studies

Imaging studies play a crucial role in the differential diagnosis of RELA fusion-positive ependymoma. However, even with advanced imaging techniques, it can be difficult to distinguish this condition from other types of brain tumors.

• MRI: Magnetic resonance imaging (MRI) is often used to diagnose and monitor brain tumors, including RELA fusion-positive ependymomas [6].
• CT Scan: Computed tomography (CT) scans are also used to diagnose and monitor brain tumors, but they may not provide sufficient detail for differential diagnosis [9].

Genetic Analysis

Genetic analysis can be used to confirm the diagnosis of RELA fusion-positive ependymoma. This involves analyzing the genetic material from a tissue sample or blood test.

• FISH: Fluorescence in situ hybridization (FISH) is a technique that can detect specific genetic abnormalities, including those associated with RELA fusion-positive ependymomas [1].
• DNA Methylation Analysis: DNA methylation analysis can also be used to confirm the diagnosis of RELA fusion-positive ependymoma [3].

References

[1] by M Pagès · 2019 · Cited by 78 — In RELA-fused ependymoma, the DNA methylation-based classification failed to diagnose with certainty two tumors (#21 and #22) (Table 1). FISH analysis of tumor ...

[2] by YT Sallam · 2020 · Cited by 4 — Here we report an unusual presentation of a large cortically-based, cystic supratentorial RELA fusion-positive ependymoma with a rare presentation. Case report.

[3] by M Pagès · 2019 · Cited by 78 — In RELA-fused ependymoma, the DNA methylation-based classification failed to diagnose with certainty two tumors (#21 and #22) (Table 1). FISH ...

[4] by MA Nagayasu · 2022 · Cited by 5 — Preoperative diagnosis of dura-attached supratentorial extra-axial ependymoma is difficult and often radiologically misdiagnosed as a meningioma ...

[5] by W Mu · 2023 · Cited by 12 — The ZFTA fusion–positive supratentorial ependymomas were previously categorized as RELA fusion. While the ZFTA or C11orf95 gene often fuses with ...

[6] Sep 10, 2024 — Differential diagnosis; Related articles ... supratentorial ependymoma, ZFTA (RELA) fusion-positive ... Differential diagnosis. Imaging ...

[7] 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 ...

[8] by M Torre · 2020 · Cited by 18 — A subgroup of supratentorial ependymomas are characterized by C11orf95-RELA fusions, presumed to be a result of genetic instability.

[9] by W Mu · 2023 · Cited by 12 — The ZFTA fusion–positive supratentorial ependymomas were previously categorized as RELA fusion. While the ZFTA or C11orf95 gene often fuses with ...

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