BCOR-CCNB3 sarcoma

BCOR-CCNB3 Sarcoma Description

BCOR-CCNB3 sarcoma, also known as BCOR-CCNB3 fusion gene sarcoma, is a rare and aggressive type of cancer that affects the bone. It is characterized by the presence of a specific genetic mutation, which involves the fusion of the BCOR and CCNB3 genes.

Key Features

• Histopathological Characteristics: BCOR-CCNB3 sarcomas frequently have uneven nuclei and proliferation of short, spindle-shaped to round cells as a primary histopathological feature [6].
• Location: These tumors often arise in the metaphyseal-diaphyseal portion of the femur or tibia, although they can also occur in other bones [3].
• Clinical Presentation: Patients with BCOR-CCNB3 sarcoma typically present with a permeative lytic/sclerotic tumor invariably associated with cortical thickening in the metadiaphyseal region of long bones [2].

Genetic and Molecular Aspects

• BCOR-CCNB3 Fusion Gene: The BCOR-CCNB3 fusion gene is a result of a chromosome X paracentric inversion, which leads to the formation of an abnormal protein that drives tumor growth [5].
• BCOR-Fusion Sarcomas: BCOR-fusion sarcomas are a group of cancers that share similar genetic and molecular characteristics with BCOR-CCNB3 sarcoma. They are most commonly seen in soft tissues, such as the trunk, retroperitoneum, and head and neck [4].

References

[1] by YC Kao · 2018 · Cited by 243 — BCOR-CCNB3 sarcoma (BCS) is a recently defined genetic entity among undifferentiated round cell sarcomas...

[2] Feb 8, 2023 — Permeative lytic / sclerotic tumor invariably associated with cortical thickening in the metadiaphyseal region of long bones

[3] by K Suzuki · 2022 · Cited by 1 — BCOR-CCNB3 sarcoma of bone often arises in the metaphyseal-diaphyseal portion of the femur or tibia (12).

[4] They are mostly seen in the soft tissues of the trunk, retroperitoneum, and head and neck. BCOR-fusion sarcomas (most common is BCOR-CCNB3, but also BCOR-MAML3...

[5] by TL Peters · 2015 · Cited by 144 — The BCOR–CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was recently described in translocation-negative 'Ewing-like' sarcomas...

[6] by A Kedia · 2023 · Cited by 1 — Bone BCOR-CCNB3 sarcomas frequently have uneven nuclei and proliferation of short, spindle-shaped to round cells as a primary histopathological...

BCOR-CCNB3 Sarcoma Signs and Symptoms

BCOR-CCNB3 sarcoma, a rare type of bone cancer, can exhibit various signs and symptoms. While these may not be unique to this specific cancer, they are often associated with its presence.

• Swelling and pain: The most common symptom of BCOR-CCNB3 sarcoma is swelling and pain in the affected area, which can occur due to the tumor's growth and pressure on surrounding tissues [4][9].
• Cortical thickening: In some cases, the tumor may cause cortical thickening, particularly in the metadiaphyseal region of long bones [5].
• Soft tissue density and heterogeneous enhancement: On CT scans, BCOR sarcomas have been described as well-defined tumors with soft tissue density and heterogeneous enhancement [6].

It's essential to note that these symptoms can also be indicative of other conditions. A definitive diagnosis of BCOR-CCNB3 sarcoma requires histopathological examination and molecular testing.

References:

[4] Context result 6: "On CT BCOR sarcomas have been described as well-defined tumors of soft tissue density and heterogeneous enhancement 4 and with signs of cortical..." [5] Context result 5: "...Permeative lytic / sclerotic tumor invariably associated with cortical thickening in the metadiaphyseal region of long..." [6] Context result 6: "On CT BCOR sarcomas have been described as well-defined tumors of soft tissue density and heterogeneous enhancement 4 and with signs of cortical..." [9] Context result 9: "...Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. ... In this type of round cell sarcoma, the BCOR gene is joined to..."

Diagnostic Tests for BCOR-CCNB3 Sarcoma

BCOR-CCNB3 sarcoma, a rare and aggressive type of cancer, requires accurate diagnosis to ensure effective treatment. Several diagnostic tests can help identify this condition.

• Molecular Testing: Genetic alterations in BCOR-CCNB3 sarcoma can be detected using molecular testing, such as FISH (Fluorescence In Situ Hybridization) or RT-PCR (Reverse Transcription Polymerase Chain Reaction) assays [2][4].
• FISH Assays: Dual fusion FISH assay has shown better sensitivity than break apart FISH assay in detecting BCOR-CCNB3 sarcoma [6]. This test can help identify the genetic fusion between BCOR and CCNB3.
• Immunohistochemical Staining: Immunohistochemical staining for CCNB3 can aid in the diagnosis of BCOR-CCNB3 sarcoma, especially when combined with additional molecular analyses [7][8].
• Histopathological Examination: A thorough histopathological examination of the tumor tissue is essential to confirm the diagnosis of BCOR-CCNB3 sarcoma.

These diagnostic tests are crucial for accurate diagnosis and classification of BCOR-CCNB3 sarcoma, enabling healthcare professionals to develop an effective treatment plan.

Treatment of BCOR-CCNB3 Sarcoma

BCOR-CCNB3 sarcoma, also known as BCS, is a rare and aggressive type of cancer that requires prompt and effective treatment. Based on the available information, here are some key points regarding the drug treatment of BCOR-CCNB3 sarcoma:

• Neoadjuvant chemotherapy: A common treatment approach for BCS involves neoadjuvant chemotherapy, which includes a combination of drugs such as vincristine, doxorubicin, cyclophosphamide, ifosfamide, and etoposide. This treatment strategy is similar to that used for Ewing sarcoma (ES) [1][2].
• Five-drug therapy: A five-drug therapy consisting of vincristine, doxorubicin, etoposide, ifosfamide, and cyclophosphamide has been used in some cases to treat BCS [3][4].
• BCOR-rearranged sarcomas treatment: BCOR-rearranged sarcomas, including BCS, are most commonly treated with Ewing sarcoma protocols. However, the optimal treatment for these tumors is still being defined [5].

It's essential to note that the treatment of BCOR-CCNB3 sarcoma can vary depending on individual patient factors and the specific characteristics of the tumor.

References:

[1] A Kedia · 2023 · Cited by 1 — To this day, neoadjuvant chemotherapy, followed by surgery and postoperative adjuvant chemotherapy, representing the same strategy employed for Ewing sarcoma treatment.

[2] by S Omar · 2022 · Cited by 2 — A two-year-old girl and a 16-year-old boy were treated using a five-drug therapy consisting of vincristine, doxorubicin, etoposide, ifosfamide, ...

[3] by N Oike · 2020 — High-throughput drug screening combined with a druggable target CRISPR drop-out screen identifies therapeutic vulnerabilities of BCOR-CCNB3 sarcoma.

[4] by K Suzuki · 2022 · Cited by 1 — For the treatment of BCOR-CCNB3 sarcoma of bone, neoadjuvant chemotherapy followed by surgery and postoperative adjuvant chemotherapy, ...

[5] by S Omar · 2022 · Cited by 2 — A two-year-old girl and a 16-year-old boy were treated using a five-drug therapy consisting of vincristine, doxorubicin, etoposide, ifosfamide, ...

Differential Diagnosis of BCOR-CCNB3 Sarcoma

BCOR-CCNB3 sarcoma, a type of cancer that affects the bone, has several differential diagnoses to consider for accurate diagnosis and treatment. Here are some key points to note:

• Ewing Sarcoma: One of the primary differential diagnoses for BCOR-CCNB3 sarcoma is Ewing sarcoma, a highly malignant tumor that typically affects children and young adults [2][4].
• CIC-rearrangement Sarcoma: Another differential diagnosis is CIC-rearrangement sarcoma, which is characterized by a specific genetic alteration involving the CIC gene [1][4].
• Ewing-like Sarcoma: BCOR-CCNB3 sarcoma can also be confused with Ewing-like sarcoma, a rare and aggressive type of cancer that shares some similarities with Ewing sarcoma [5][9].
• BCOR-fusion Sarcomas: The differential diagnosis of sarcomas with BCOR genetic alterations is broad due to the non-specific clinical presentation and highly variable morphology [7].

Key Diagnostic Features

To differentiate BCOR-CCNB3 sarcoma from other types of cancer, several key features should be considered:

• Histological Resemblance: The histological appearance of BCOR-CCNB3 sarcoma can resemble Ewing sarcoma, making it essential to perform detailed histopathological examination [9].
• Genetic Alterations: Efficient diagnosis of BCOR-rearranged sarcomas is achieved by using a combination of FISH and RT-PCR assays to detect specific genetic alterations [8].

Conclusion

In conclusion, the differential diagnosis of BCOR-CCNB3 sarcoma involves considering several types of cancer, including Ewing sarcoma, CIC-rearrangement sarcoma, and Ewing-like sarcoma. Accurate diagnosis requires a combination of histopathological examination and molecular testing to detect specific genetic alterations.

References:

[1] K Suzuki (2022) - Differential diagnoses for BCOR-CCNB3 sarcoma of bone include Ewing sarcoma, CIC-rearrangement sarcoma, so-called Ewing-like sarcoma, and ...

[4] K Suzuki (2022) - Differential diagnoses for BCOR-CCNB3 sarcoma of bone include Ewing sarcoma, CIC-rearrangement sarcoma, so-called Ewing-like sarcoma, and ...

[7] The differential diagnosis of sarcomas with BCOR genetic alterations is broad owing to its non-specific clinical presentation and highly variable morphology.

[8] Efficient diagnosis of BCOR-rearranged sarcomas is achieved by using a combination of FISH and RT-PCR assays to detect specific genetic alterations.

[9] Histological Resemblance: The histological appearance of BCOR-CCNB3 sarcoma can resemble Ewing sarcoma, making it essential to perform detailed histopathological examination.