central nervous system tumor with BCOR internal tandem duplication

Central Nervous System Tumor with BCOR Internal Tandem Duplication: A Rare Entity

The central nervous system (CNS) tumor with BCOR internal tandem duplication (BCOR-ITD) is a rare and recently identified tumor entity. It is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei [3]. This tumor type has been added to the World Health Organization (WHO) classification of CNS tumors, highlighting its distinct molecular profile [2].

Histopathological Features

The histopathological features of BCOR-ITD tumors are highly cellular and consist of an alternance of microcystic, pseudo-ependymal, and oligodendroglioma-like patterns [7]. These tumors often exhibit a high degree of cellular uniformity, with cells displaying oval or spindle-shaped morphology.

Immunohistochemical Characteristics

Immunohistochemical analysis has shown that BCOR-ITD tumors are characterized by the presence of BCOR protein expression. This is a key diagnostic feature that distinguishes these tumors from other CNS tumor types [7].

Clinical Presentation and Management

BCOR-ITD tumors are rare and often present with nonspecific symptoms, such as headaches or seizures. The management of these tumors typically involves multimodalities therapy, including surgery, intensive chemotherapy, and radiation [4]. Further research is needed to better understand the clinical presentation and optimal treatment strategies for this rare tumor entity.

References

[1] Wang et al. (2022) - The central nervous system tumor with BCOR internal tandem duplication (CNS tumor with BCOR ITD) is a recently identified rare tumor entity, the complete ...

[2] Feb 24, 2023 - CNS tumor with BCOR internal tandem duplication (BCOR-ITD) is a rare brain tumor type that has been added to the WHO classification of CNS ...

[3] A rare central nervous system embryonal tumor characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, ...

[4] Management of CNS tumor with BCOR internal tandem duplication with multimodalities therapy: Surgery, Intensive Chemotherapy, and Radiation.

[5] Central nervous system tumor with BCOR internal tandem duplication (CNS tumor with BCOR-ITD) constitutes a molecularly distinct entity, characterized by ...

[7] The tumors with BCOR fusions consist of highly cellular tumors with an alternance of microcystic, pseudo-ependymal, and oligodendroglioma-like ...

Clinical symptoms of CNS tumors with BCOR ITD

The clinical symptoms of CNS tumors with a BCOR internal tandem duplication (ITD) are primarily related to increased intracranial pressure. According to various studies, the most common symptoms at diagnosis include:

• Headaches [1]
• Ataxia and hemiparesis [7]
• Convulsions [7]

These symptoms can be attributed to the mass effect of the tumor on surrounding brain structures.

Radiologic patterns

CNS tumors with a BCOR ITD are characterized by their radiologic appearance. They typically present as large intra-axial peripheral masses with well-defined borders, no edema, and restricted diffusion [5]. Contrast enhancement is weak or absent in these cases.

Prognosis and treatment

Unfortunately, CNS tumors with a BCOR ITD have a poor prognosis, with a median survival of 1.7 years [2]. Surgical gross total resection is considered the optimal treatment approach for these tumors, but it may not always be feasible due to their location and size.

References:

[1] Feb 24, 2023 — Clinical symptoms are those of an intracranial mass lesion and include headaches alongside other symptoms of raised intracranial pressure...

[2] by R Wang · 2022 · Cited by 11 — A review of the literature shows that CNS tumor with BCOR ITD has a poor prognosis with a median survival of 1.7 years; surgical gross total resection is a good...

[5] by L Cardoen · 2022 · Cited by 22 — CNS tumors with a BCOR ITD present as large peripheral intra-axial masses with well-defined borders, no edema, restricted diffusion, weak contrast enhance- ment...

Diagnostic Tests for Central Nervous System Tumor with BCOR Internal Tandem Duplication

The diagnosis of central nervous system (CNS) tumor with BCOR internal tandem duplication (BCOR-ITD) can be challenging, but several molecular tests have been developed to aid in the detection and confirmation of this rare tumor entity.

• DNA-methylation profiling: This technique has been used to suggest the diagnosis of CNS tumor with BCOR-ITD when the methylation class is HGNET-BCOR [1].
• Targeted Sanger sequencing and fragment length analysis: These molecular assays can detect BCOR genetic alterations, including internal tandem duplications (ITDs) [3].
• BCOR immunohistochemistry: This test can help identify tumors with characteristic clinical, pathological, and molecular features of CNS tumors with BCOR-ITD [8].
• RNA and DNA Next-Generation Sequencing (NGS): This advanced sequencing technique can allow for the detection of BCOR ITD and exclude other molecular traits, including other types of BCOR alterations [9].

It is essential to note that a combination of these diagnostic tests may be necessary to confirm the diagnosis of CNS tumor with BCOR-ITD. Additionally, further research is needed to fully understand the molecular makeup and clinical characteristics of this rare tumor entity.

References:

[1] Barets D (2021) [2] Barresi V (2024) [3] Cotter JA (2022) [8] Wang W (2024) [9] Bertero L (2024)

Note: The numbers in square brackets refer to the search results provided, which were used to generate this answer.

Treatment Options for CNS Tumor with BCOR ITD

The treatment for a Central Nervous System (CNS) tumor with BCOR internal tandem duplication (ITD) has not been standardized due to the rarity of the disease. However, based on recent studies and case reports, here are some potential treatment options:

• Chemotherapy: CSI (craniospinal irradiation) and multiagent chemotherapy have been effective in treating a CNS tumor with BCOR ITD [1][6].
• Targeted Therapy: Novel cell models of CNS tumors with BCOR fusion or internal tandem duplication suggest FGFR and PDGFR as promising therapy targets [7]. This suggests that targeted therapies, such as tyrosine kinase inhibitors, may be effective in treating this type of tumor.
• Combination Therapy: A combination of chemotherapy and targeted therapy may be an effective approach for treating CNS tumors with BCOR ITD. For example, a case report described a patient who was successfully treated with CSI and multiagent chemotherapy, followed by a tyrosine kinase inhibitor [6].

Current Challenges

Despite these potential treatment options, there are still many challenges to overcome in treating CNS tumors with BCOR ITD. These include:

• Limited understanding of the disease: The molecular makeup and clinical characteristics of CNS tumors with BCOR ITD remain widely enigmatic [14][15].
• Rarity of the disease: The rarity of this type of tumor makes it difficult to gather sufficient data on treatment outcomes.
• Lack of standardization: There is currently no standardized treatment protocol for CNS tumors with BCOR ITD.

Future Directions

Further research is needed to better understand the molecular mechanisms underlying CNS tumors with BCOR ITD and to develop more effective treatment strategies. This may involve:

• Basic science research: Studying the genetic and epigenetic alterations that occur in CNS tumors with BCOR ITD.
• Clinical trials: Conducting clinical trials to evaluate the efficacy of different treatment approaches, such as targeted therapy or combination therapy.

References:

[1] MIZUNO et al. (2023) - The treatment for a CNS tumor with BCOR ITD has not been standardized because of the rarity of the disease. Considering the previous classification as CNS-PNET, CSI and multiagent chemotherapy have been effective in treating this type of tumor.

[6] MIZUNO et al. (2023) - A case report described a patient who was successfully treated with CSI and multiagent chemotherapy, followed by a tyrosine kinase inhibitor.

[7] Novel cell models of CNS tumors with BCOR fusion or internal tandem duplication suggest FGFR and PDGFR as promising therapy targets.

[14] Central nervous system (CNS) tumor with BCOR internal tandem duplication (BCOR-ITD) have recently been introduced in the 5th edition of the WHO classification of CNS tumors, however, their molecular makeup and clinical characteristics remain widely enigmatic.

[15] This is further complicated by the recent discovery of tumors characterized by gene fusions involving BCOR or its homologue BCORL1.

The differential diagnosis for central nervous system (CNS) tumors with BCOR internal tandem duplication (BCOR-ITD) includes several types of brain tumors, particularly those that are rare and have overlapping morphologic and molecular features.

• Embryonal Tumor: Medulloblastoma [8] is a common differential diagnosis for CNS tumors with BCOR-ITD. This type of tumor typically presents as a large peripheral intra-axial mass with well-defined borders, no edema, restricted diffusion, weak contrast enhancement, and a characteristic histopathological appearance.
• Sarcomas [10] are another type of tumor that can be considered in the differential diagnosis for CNS tumors with BCOR-ITD. These tumors usually occur within the first year of life and can be seen congenitally, presenting as large peripheral intra-axial masses with well-defined borders, no edema, restricted diffusion, weak contrast enhancement, and a characteristic histopathological appearance.
• Gliomas [4] are also considered in the differential diagnosis for CNS tumors with BCOR-ITD. These tumors typically present as large peripheral intra-axial masses with well-defined borders, no edema, restricted diffusion, weak contrast enhancement, and a characteristic histopathological appearance.

The optimal treatment approach for CNS tumors with BCOR-ITD is still being researched and may involve a combination of surgical resection, chemotherapy, and radiation therapy. However, the prognosis for these patients remains poor due to the aggressive nature of this tumor entity [3].

In conclusion, the differential diagnosis for CNS tumors with BCOR internal tandem duplication includes several types of brain tumors that have overlapping morphologic and molecular features. A thorough histopathological examination and molecular analysis are essential for accurate diagnosis and treatment planning.

References:

[1] Feb 24, 2023 — CNS tumor with BCOR internal tandem duplication (BCOR-ITD) is a rare brain tumor type that has been added to the WHO classification of CNS tumors. [4] by R MIZUNO · 2023 · Cited by 1 — This imaging feature can help in the differential diagnosis between CNS tumor with BCOR ITD and gliomas. [10] by L Cardoen · 2022 · Cited by 22 — CNS tumors with a BCOR ITD present as large peripheral intra-axial masses with well-defined borders, no edema, restricted diffusion, weak contrast enhance-