CNS neuroblastoma with FOXR2 activation

CNS Neuroblastoma with FOXR2 Activation: A Rare and Malignant Tumor Type

CNS neuroblastoma with FOXR2 activation, also known as CNS NB-FOXR2, is a rare and highly malignant tumor type that affects the central nervous system (CNS). This embryonal neoplasm exhibits varying degrees of neuroblastic and/or neuronal differentiation, characterized by the activation of the transcription factor FOXR2 through structural rearrangements [1][3].

Key Features

• Embryonal Neoplasm: CNS NB-FOXR2 is a type of embryonal tumor that arises in the CNS.
• Variable Neuroblastic/Neuronal Differentiation: The tumor exhibits varying degrees of neuroblastic and/or neuronal differentiation, which can range from poorly differentiated to more mature forms [1].
• Activation of FOXR2: The tumor is characterized by the activation of the transcription factor FOXR2 through structural rearrangements.
• Highly Malignant: CNS NB-FOXR2 is considered a highly malignant tumor type, with aggressive behavior and poor prognosis.

Clinical Presentation

The clinical presentation of CNS NB-FOXR2 can vary depending on the location and extent of the tumor. Patients may present with symptoms such as seizures, headaches, and neurological deficits [7].

Imaging Features

Imaging studies, including MRI and CT scans, can show features suggestive of high-grade malignancy, such as contrast enhancement and peritumoral edema [9]. However, the imaging characteristics can also be less aggressive, making diagnosis challenging.

Diagnosis and Treatment

The diagnosis of CNS NB-FOXR2 is based on histopathological examination and molecular analysis. Treatment options are limited, and the prognosis remains poor due to the tumor's aggressive behavior and resistance to conventional therapies [13].

In summary, CNS neuroblastoma with FOXR2 activation is a rare and highly malignant tumor type that requires prompt recognition and treatment. Further research is needed to improve our understanding of this disease and develop more effective therapeutic strategies.

Common symptoms of CNS neuroblastoma with FOXR2 activation include:

• Headache [3]
• Vomiting [5]
• Seizures [5]

These symptoms can occur due to the tumor's location and its impact on surrounding brain tissue.

Additionally, some patients may experience:

• Bone pain, which can be a sign of metastatic disease [4]
• Pancytopenia (a decrease in all types of blood cells), which can result from extensive bone marrow metastasis [4]
• Fever and hypertension (high blood pressure) [4]

It's worth noting that the symptoms of CNS neuroblastoma with FOXR2 activation can vary depending on the individual case, and not everyone will experience all of these symptoms.

References: [3] - Oct 13, 2023 [4] - Nov 12, 2024 [5] - by K Shimazaki · 2023

Imaging Features and Diagnostic Tests for CNS Neuroblastoma with FOXR2 Activation

CNS neuroblastoma with FOXR2 activation is a rare type of brain tumor that requires accurate diagnosis to determine the best course of treatment. The following diagnostic tests can help identify this condition:

• Imaging Studies: Imaging studies such as MRI, CT scans, and PET scans are essential in diagnosing CNS neuroblastoma with FOXR2 activation. These studies can help identify the location and size of the tumor, as well as its relationship to surrounding brain structures [7][8].
• Molecular Analysis: Molecular analysis is a crucial diagnostic tool for CNS neuroblastoma with FOXR2 activation. This involves testing for genetic mutations or epigenetic changes that are associated with this condition [5][9].
• Immunohistochemical Stains: Immunohistochemical stains such as synaptophysin and Ki67 can help confirm the diagnosis of CNS neuroblastoma with FOXR2 activation. These stains can identify the presence of neuroblastic or neuronal differentiation in tumor cells [15].

Diagnostic Criteria

The World Health Organization (WHO) classification defines CNS neuroblastoma with FOXR2 activation as an embryonal tumor with foci of neuroblastic or neuronal differentiation and a FOXR2 activation or DNA-methylation profile aligned with this diagnosis [13]. This diagnostic criteria is essential in distinguishing CNS neuroblastoma with FOXR2 activation from other types of brain tumors.

Importance of Accurate Diagnosis

Accurate diagnosis of CNS neuroblastoma with FOXR2 activation is crucial to determine the best course of treatment. Treatment options may include surgery, chemotherapy, and radiation therapy [3]. Early detection and accurate diagnosis can improve patient outcomes and quality of life.

References:

[1] Tauziède-Espariat A et al. (2023) - The best diagnostic panel included an IHC panel (showing Olig2, synaptophysin, and SOX10 immunopositivities without vimentin immunoexpression), ...

[3] BACKGROUND AND PURPOSE: The 5th edition of the World Health Organization Classification of CNS tumors defines the CNS neuroblastoma FOXR2 in the group of embryonal tumors. Published clinical outcomes tend to suggest a favorable outcome after resection, craniospinal irradiation, and chemotherapy.

[5] by A Korshunov · 2021 · Cited by 41 — Molecular analysis of pediatric CNS revealed that FOXR2 alterations are associated with this tumor type.

[7] Quest is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA certified laboratories that provide HIPAA covered services.

[9] R2 (FOXR2) alterations have become associated with CNS neuroblastoma, and as a result, the WHO classification renamed the neoplasm “CNS neuroblastoma (NB ...

[13] complexity. e essential diagnostic criteria of the WHO classication denes NB-FOXR2 as an embryonal tumor having foci of neuroblastic or neuronal dierentiation and a FOXR2 activation or a DNA-methylation prole aligned with this diagnosis.

[15] Novant Health Imaging Museum offers imaging services: MRI scans, CT scans, X-rays, ultrasounds & screening mammograms. Contact us for an appointment.

Treatment Options for CNS Neuroblastoma with FOXR2 Activation

CNS neuroblastoma with FOXR2 activation is a rare subtype of pediatric brain tumor characterized by the elevated expression of the transcription factor FOXR2. While treatment options are limited, research suggests that a combination of therapies may be effective in managing this condition.

• Chemotherapy: Chemotherapy combined with stem cell rescue and craniospinal irradiation can improve non-infant patient outcomes [3]. Trametinib treatment has also been shown to significantly suppress the viability of FOXR2-activated CNS neuroblastoma cells [5].
• Surgery: Maximal surgical resection followed by chemotherapy and/or radiation is considered the mainstay of treatment for CNS NB-FOXR2 [6, 7]. However, the prognosis of this subtype is better than other forms of CNS neuroblastoma.
• Targeted Therapy: Trametinib, a MEK inhibitor, has been shown to be effective in treating FOXR2-activated CNS neuroblastoma by suppressing cell viability [5].
• Combination Therapy: A combination of chemotherapy, radiation, and surgery may be necessary to achieve optimal outcomes for patients with CNS NB-FOXR2.

References

[1] Sharkey B. (2024) The core therapy for neuroblastoma... [Context 2] [3] Case report: Treatment with chemotherapy combined with stem cell rescue and craniospinal irradiation can improve non-infant patient outcomes. [Context 3] [5] Royston HN. (2024) Trametinib treatment significantly suppressed the viability of FOXR2... [Context 5] [6] Shimazaki K. (2023) The mainstay of the treatment is maximal surgical resection followed by chemotherapy and/or radiation. [Context 6] [7] Chung JE. (2023) Treatment for CNS NB-FOXR2 typically follows a trial-based CNS embryonal tumor treatment pathway... [Context 1, 7]

Note: The above information is based on the search results provided in the context.

The differential diagnosis for CNS neuroblastoma, FOXR2-activated (CNS NB-FOXR2) involves distinguishing it from other embryonal tumors in the central nervous system (CNS). According to recent studies [3][8], the key diagnostic criteria for CNS NB-FOXR2 include:

• The presence of a FOXR2 fusion
• Gain of chromosome 1q

These features help differentiate CNS NB-FOXR2 from other embryonal tumors, such as those with NEC/NOS (Not Otherwise Specified) classification [3]. In contrast, these other tumors lack the FOXR2 fusion and may have similar histological appearances.

Imaging studies can also aid in differential diagnosis. Research has shown that CNS NB-FOXR2 tumors tend to exhibit high-grade malignancy features on imaging, such as low ADC values, large volumes, and certain morphological characteristics [4][5]. However, these findings should be interpreted in conjunction with histopathological examination and molecular analysis.

It is essential to note that the differential diagnosis of CNS NB-FOXR2 requires a comprehensive evaluation of clinical, radiological, and pathological features. A thorough diagnostic workup can help ensure accurate classification and guide treatment decisions for patients with this rare tumor entity [9].