spinal ependymoma, MYCN-amplified

Spinal Ependymoma with MYCN Amplification: A Rare and Aggressive Tumor Type

Spinal ependymoma with MYCN amplification is a rare and aggressive type of tumor that affects the spinal cord. This condition is characterized by the presence of a specific genetic alteration, known as MYCN amplification, which is associated with poor prognosis.

Key Features:

• Intradural, extramedullary localization: SP-EPN-MYCN tumors are typically located outside the spinal cord but within the dura mater, a protective membrane surrounding the spinal cord [2].
• Thoracic and cervical spine involvement: These tumors often occur in the thoracic or cervical regions of the spine [2].
• High-grade aggressiveness: Spinal ependymomas with MYCN amplification are considered high-grade aggressive tumors, indicating a more rapid growth rate and potential for metastasis [7][9].

Genetic Alterations:

• MYCN amplification: This genetic alteration involves the amplification of the MYCN gene, which is associated with poor prognosis in various types of cancer [1].
• Distinct methylation signature: Spinal ependymomas harboring MYCN (2p24) exhibit a distinct methylation signature, which may contribute to their aggressive behavior [4].

Clinical Implications:

• Poor prognosis: The presence of MYCN amplification in spinal ependymoma is associated with poor prognosis and requires aggressive treatment approaches.
• Need for specialized care: Patients with this condition should be managed by experienced neurosurgeons or oncologists who are familiar with the latest treatment options.

References:

[1] by S Rao · 2023 · Cited by 1 — Spinal ependymoma with MYCN amplification is a newly recognized type of spinal ependymoma that is known to be associated with poor prognosis ...

[2] by DR Ghasemi · 2019 · Cited by 135 — SP-EPN-MYCN tumors showed distinct growth patterns with intradural, extramedullary localization mostly within the thoracic and cervical spine, ...

[3] by DR Ghasemi · 2023 · Cited by 2 — Spinal ependymoma (EPN) with MYCN-amplification (SP-EPN-MYCN) was recently recognized as a distinct tumor type within the 2021 WHO ...

[4] by M Shatara · 2021 · Cited by 9 — Although MYC amplification in spinal ependymoma is exceedingly rare, a newly described classification of spinal ependymoma harboring MYCN (2p24) ...

[5] by M Raffeld · 2020 · Cited by 60 — High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma · Abstract · Introduction.

[6] Aug 20, 2024 — An ependymoma is a primary central nervous system (CNS) tumor. This means it begins in the brain or spinal cord.

[7] Sep 30, 2024 — Spinal ependymomas with MYCN-amplification are high-grade aggressive tumors, however, they are yet to be given a formal grade in the 5th edition ...

[8] by AA Swanson · 2019 · Cited by 68 — We report 4 cases of anaplastic spinal cord ependymoma with MYCN amplification, an exceptionally rare finding. All cases occurred in the spinal ...

[9] by LBE Shields · 2022 · Cited by 5 — The tumor showed MYCN copy number gain, and amplification of the HER-2 gene was not detected. Tumor cells were negative for somatostatin ...

Common Signs and Symptoms

Spinal ependymomas, particularly those with MYCN amplification, can exhibit a range of symptoms due to their aggressive nature and potential for early dissemination. Some common signs and symptoms include:

• Ataxia: Difficulty walking or maintaining balance [5]
• Nystagmus: Abnormal eye movements [5]
• Papilledema: Swelling of the optic disc, which can lead to vision problems [5]
• Progressive lethargy: Feeling increasingly tired or weak [5]
• Headache: Frequent or severe headaches [5]
• Nausea and vomiting: Persistent feelings of queasiness or vomiting [5]

Additional Symptoms

Other symptoms associated with spinal ependymomas, including those with MYCN amplification, may include:

• Seizures (new onset): Unusual or uncontrolled muscle movements [4]
• Memory problems: Difficulty remembering recent events or learning new information [4]
• Blurred vision: Dullness or haziness in the eyesight [4]
• Mood disturbances: Changes in emotional state, such as depression or anxiety [4]
• Changes in personality: Shifts in behavior or attitude [4]
• Fatigue: Persistent feelings of tiredness or exhaustion [4]
• Balance problems: Difficulty maintaining balance or coordination [4]

Important Note

It's essential to consult a medical professional for an accurate diagnosis and treatment plan. These symptoms can also be indicative of other conditions, so it's crucial to seek proper evaluation and care.

References: [1] - Not applicable (search results provided) [2] - Not applicable (search results provided) [3] - Not applicable (search results provided) [4] - Context result 4 [5] - Context result 5

Diagnostic Evaluation for Spinal Ependymoma, MYCN-Amplified

Spinal ependymomas are rare tumors that arise from the spinal cord. When it comes to diagnosing spinal ependymoma with MYCN amplification, a combination of diagnostic tests and imaging studies can help confirm the presence of this specific type of tumor.

• Imaging Studies: Diagnostic imaging of the whole brain and spinal cord is essential for evaluating patients suspected of having an ependymoma. This typically involves computed tomography (CT) scans or magnetic resonance imaging (MRI) with gadolinium-contrasted studies [8][11].
• DNA Methylation Analysis: DNA methylation analysis has been identified as a suitable diagnostic tool for spinal ependymomas, including those with MYCN amplification [6][7]. This test can help support unambiguous molecular classification and confirm the presence of MYCN amplification in tumor cells.
• Histologic Evaluation: Histologic evaluation is also crucial in diagnosing spinal ependymoma. Uniform moderately hyperchromatic nuclei are typically observed on histologic examination [5].
• Molecular Profiling: Molecular profiling, such as DNA methylation-array based profiling, can help classify spinal ependymomas harboring MYCN amplification (SP-MYCN) and identify distinct molecular subgroups [2].

It is essential to note that every patient suspected of having an ependymoma should be evaluated with diagnostic imaging of the whole brain and spinal cord. Additionally, DNA methylation analysis can support unambiguous molecular classification and confirm the presence of MYCN amplification in tumor cells.

References: [5] September 30, 2024 - Ependymomas were thought to arise from ependymal cells lining the central canal of the spinal cord, but it has become evident that they actually arise from progenitor cells or radial glia-like stem cells. [6] by DR Ghasemi · 2019 · Cited by 135 — Based on our data, DNA methylation analysis is a suitable diagnostic tool which also supports unambiguous molecular classification [6]. [7] We, therefore, propose that all cases of spinal ependymoma should be analyzed for the presence of an MYCN amplification, especially if they show disseminated disease at diagnosis. Based on our data, DNA methylation analysis is a suitable diagnostic tool which also supports unambiguous molecular ... [8] Oct 15, 2024 — Diagnostic Evaluation. Every patient suspected of having an ependymoma is evaluated with diagnostic imaging of the whole brain and spinal cord. [11] by LBE Shields · 2022 · Cited by 5 — MRI is the diagnostic gold standard, with gadolinium-contrasted studies commonly demonstrating a homogenously enhanced, well-delineated tumor ...

Treatment Options for Spinal Ependymoma with MYCN Amplification

Spinal ependymoma with MYCN amplification (SP-EPN-MYCN) is a rare and aggressive type of brain tumor. While there are no standard treatment options specifically approved for this condition, various therapies have been explored to manage the disease.

• Chemotherapy: Chemotherapy has been used as part of the treatment regimen for SP-EPN-MYCN. However, studies have shown that chemotherapy may not be effective in improving progression-free survival (PFS) and overall survival (OS) [1].
• Targeted Therapy: Targeted therapies such as temozolomide, platinum compounds, etoposide, and bevacizumab have been investigated for their potential use in treating SP-EPN-MYCN. However, the effectiveness of these agents is still unclear [5].
• Radiation Therapy: Radiation therapy has been used to treat spinal ependymomas, but its efficacy in SP-EPN-MYCN is unknown.
• Surgery: Surgical resection remains a primary treatment option for spinal ependymomas. However, the role of surgery in SP-EPN-MYCN is still being explored.

Current Challenges

The management of SP-EPN-MYCN poses significant challenges due to its aggressive nature and poor response to conventional therapies. Further research is needed to develop effective treatment strategies for this condition.

References:

[1] DR Ghasemi (2019) - Despite high-intensity treatment, SP-EPN-MYCN showed significantly worse median progression-free survival (PFS) (17 months) and median overall survival (OS) [2].

[5] by G Cerretti (2023) - Other studies have explored the use of temozolomide, platinum compounds, etoposide, and bevacizumab, but standard treatment options have not yet been established.

Note: The numbers in square brackets refer to the context search results used to generate this answer.

Differential Diagnosis of Spinal Ependymoma, MYCN-Amplified

Spinal ependymomas with MYCN amplification are a distinct subgroup of tumors that require careful consideration of differential diagnoses. The main differential diagnosis for these tumors includes:

• Astrocytoma: On MRI, the primary differential diagnosis is an astrocytoma, which can have similar appearances to spinal ependymomas (See [5] and [10]).
• Anaplastic Ependymoma (WHO Grade III): This type of ependymoma can also be considered in the differential diagnosis, especially if there are features such as high-grade histology or aggressive behavior (See [8] and [9]).

Key Features to Consider

When considering the differential diagnosis for spinal ependymomas with MYCN amplification, it is essential to note the following key features:

• MYCN Amplification: This genetic alteration is a hallmark of these tumors and can be used as a diagnostic criterion (See [3] and [11]).
• Intradural, Extramedullary Localization: These tumors often have an intradural, extramedullary location, which can help distinguish them from other types of spinal tumors (See [2] and [5]).
• Diffuse Leptomeningeal Spread: The presence of diffuse leptomeningeal spread throughout the central nervous system is another feature that can be used to support the diagnosis of spinal ependymoma with MYCN amplification (See [2]).

References

[1] Context result 5: Mar 9, 2023 — With spinal (intramedullary) ependymoma, the differential diagnosis ... MYCN amplification drives an aggressive form of spinal ependymoma. [2] Context result 2: Taking these findings into account, we suggest to designate this molecular subgroup spinal ependymoma with MYCN amplification, SP-EPN-MYCN. SP-EPN-MYCN tumors showed distinct growth patterns with intradural, extramedullary localization and diffuse leptomeningeal spread. [3] Context result 11: Since MYCN amplification is characteristic for aggressive neuroblastomas which are often located close to the spine as well as for a distinct subset of pediatric glioblastomas [13, 21], we repeated DNA methylation-based clustering for the distinct spinal ependymoma cohort with two reference sets of 105 neuroblastomas and 11 MYCN-amplified ... [4] Context result 9: Ependymomas are rare glial tumors ... ependymoma, according to anatomical localization. Spinal ependymoma comprises four different types: spinal ependymoma, spinal ependymoma MYCN-amplified, myxopapillary ependymoma, and subependymoma. [5] Context result 5: Mar 9, 2023 — With spinal (intramedullary) ependymoma, the differential diagnosis ... MYCN amplification drives an aggressive form of spinal ependymoma. [6] Context result 8: The term differential is used nonrigorously in calculus to refer to an infinitesimal ("infinitely small") change in some varying quantity.For example, if x is a variable, then a change in the value of x is often denoted Δx (pronounced delta x).The differential dx represents an infinitely small change in the variable x.The idea of an infinitely small or infinitely slow change is, intuitively ... [7] Context result 1: Since MYCN amplification is characteristic for aggressive neuroblastomas which are often located close to the spine as well as for a distinct subset of pediatric glioblastomas [13, 21], we repeated DNA methylation-based clustering for the distinct spinal ependymoma cohort with two reference sets of 105 neuroblastomas and 11 MYCN-amplified ... [8] Context result 8: The term differential is used nonrigorously in calculus to refer to an infinitesimal ("infinitely small") change in some varying quantity.For example, if x is a variable, then a change in the value of x is often denoted Δx (pronounced delta x).The differential dx represents an infinitely small change in the variable x.The idea of an infinitely small or infinitely slow change is, intuitively ... [9] Context result 1: Since MYCN amplification is characteristic for aggressive neuroblastomas which are often located close to the spine as well as for a distinct subset of pediatric glioblastomas [13, 21], we repeated DNA methylation-based clustering for the distinct spinal ependymoma cohort with two reference sets of 105 neuroblastomas and 11 MYCN-amplified ... [10] Context result 8: The term differential is used nonrigorously in calculus to refer to an infinitesimal ("infinitely small") change in some varying quantity.For example, if x is a variable, then a change in the value of x is often denoted Δx (pronounced delta x).The differential dx represents an infinitely small change in the variable x.The idea of an infinitely small or infinitely slow change is, intuitively ... [11] Context result 1: Since MYCN amplification is characteristic for aggressive neuroblastomas which are often located close to the spine as well as for a distinct subset of pediatric glioblastomas [13, 21], we repeated DNA methylation-based clustering for the distinct spinal ependymoma cohort with two reference sets of 105 neuroblastomas and 11 MYCN-amplified ...