BCOR ITD sarcoma

BCOR ITD Sarcoma: A Rare and Aggressive Tumor

BCOR internal tandem duplication (ITD) sarcoma is a rare and aggressive type of cancer that typically affects children and young adults. This tumor is characterized by the presence of a specific genetic alteration, known as BCOR-ITD, which involves an internal tandem duplication in the BCOR gene.

Clinical Presentation

Sarcomas with BCOR ITD usually occur within the first year of life and can be seen congenitally [6]. Their clinical presentation is often non-specific, making diagnosis challenging. These tumors can arise in various parts of the body, including the kidney, bone, and soft tissues.

Genetic Alterations

The BCOR genetic abnormalities include either ITD or various BCOR fusions, more often involving the CCNB3 gene and less commonly other partners [4]. This genetic alteration is a common feature of clear cell sarcoma of the kidney (CCSK) and primitive myxoid mesenchymal tumor of infancy (PMMTI).

Prognosis

Unfortunately, BCOR ITD sarcomas are associated with a poor prognosis. They tend to be highly aggressive and can recur even after treatment [9]. Further research is needed to improve our understanding of this rare and devastating disease.

References:

• [1] by D Barets · 2021 · Cited by 8 — BCOR-ITD is a common genetic alteration found in clear cell sarcoma of the kidney and primitive myxoid mesenchymal tumor of infancy (PMMTI) and ...
• [3] by A Al-Ibraheemi · 2021 · Cited by 8 — In pediatric cancers, BCOR ITDs have recurrently been described in clear cell sarcoma of kidney (CCSK), primitive myxoid mesenchymal tumor of infancy (PMMTI), ...
• [4] by CR Antonescu · 2020 · Cited by 43 — The BCOR genetic abnormalities include either ITD or various BCOR fusions, more often involving the CCNB3 gene and less commonly other partners ...
• [6] Sarcomas with BCOR internal tandem duplication (ITD) usually occur within the first year of life and can be seen congenitally. Their clinical presentation is ...
• [9] by E Medina-Ceballos — Sarcomas characterized by BCOR gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small ...

BCOR ITD Sarcoma: Signs and Symptoms

BCOR internal tandem duplication (ITD) sarcoma is a rare type of cancer that can affect various parts of the body. The symptoms of this condition can vary depending on the location and severity of the tumor.

• Soft tissue masses: BCOR ITD sarcomas have been described as well-delineated soft tissue masses, which can be found in muscles, tendons, or other connective tissues (1).
• Pain and swelling: In some cases, patients may experience pain and swelling in the affected area, such as the thigh (2, 4).
• Intracranial mass lesion symptoms: When BCOR ITD sarcoma occurs in the brain, it can cause symptoms similar to those of a brain tumor, including headaches and other signs of raised intracranial pressure (5).

It's essential to note that these symptoms can be non-specific and may resemble those of other conditions. A definitive diagnosis of BCOR ITD sarcoma requires histopathological examination and molecular testing.

References:

1. [1] - On MRI, BCOR sarcomas have been described as well-delineated soft tissue masses sometimes with necrosis or hemorrhage, cortical destruction and ...
2. [2] by Y Arai · 2023 — Symptoms: Right thigh pain and swelling.
3. [4] Mar 14, 2023 — Symptoms: Right thigh pain and swelling ... BCOR::CCNB3 sarcoma and sarcomas with BCOR::ITD [3].
4. [5] Feb 24, 2023 — Clinical symptoms are those of an intracranial mass lesion and include headaches alongside other symptoms of raised intracranial pressure,

Diagnostic Tests for BCOR ITD Sarcoma

BCOR ITD sarcoma, a type of cancer characterized by the presence of a specific genetic alteration, can be diagnosed using various molecular and histopathological tests. Here are some diagnostic tests that can help identify this condition:

• Molecular Assays: Targeted Sanger sequencing and fragment length analysis can detect BCOR ITD, but not all cases may be detected using these methods [1]. Anchored multiplex PCR targeted RNA next-generation sequencing panels can also be used to identify BCOR ITDs in pediatric tumors [3].
• Immunohistochemical Analysis: Immunohistochemical analysis of NKX2.2, ETV4, and BCOR can help confirm the diagnosis of Ewing sarcoma, which may exhibit BCOR ITD [7].
• Histopathological Examination: A qualified pathologist should perform histopathological examination to diagnose BCOR ITD sarcoma. This involves examining tissue samples under a microscope to look for characteristic features of the tumor.
• Next-Generation Sequencing (NGS): NGS can be used to detect BCOR ITDs in tumors, including those with novel long spliced ITDs [8].

It's essential to note that a combination of these diagnostic tests may be necessary to confirm the diagnosis of BCOR ITD sarcoma. A qualified pathologist or oncologist should interpret the results and make a definitive diagnosis.

References:

[1] by D Barets · 2021 · Cited by 8 — [2] by D Barets · 2021 · Cited by 8 — [3] by A Al-Ibraheemi · 2021 · Cited by 8 — [7] by JY Goh · 2022 · Cited by 1 — [8]

Treatment Options for BCOR ITD Sarcoma

BCOR ITD (inositol-trisphosphate receptor) sarcomas are a rare and aggressive type of cancer that primarily affects young patients. The treatment options for this condition are limited, but various studies have explored different therapeutic approaches.

• Chemotherapy: First-line chemotherapy has been reported to include an alkylating agent such as ifosfamide or cyclophosphamide, combined with other drugs like vincristine, actinomycin-D, and doxorubicin [1]. A five-drug therapy consisting of vincristine, doxorubicin, etoposide, ifosfamide, and actinomycin-D has also been used in some cases [2].
• Surgery: Surgical resection may be considered for patients with localized disease.
• Radiation Therapy: Radiation therapy can be an option for patients who are not candidates for surgery or have residual disease after surgery.

Emerging Therapies

Recent studies have investigated the potential of targeted therapies in treating BCOR ITD sarcomas. For example, a study published in 2023 analyzed the genetic alterations in 60 young patients with these rare sarcomas [3]. Another study conducted a meta-analysis of reports on the therapeutic approach to BCOR rearranged sarcomas [4].

Current Guidelines

While specific guidelines for treating BCOR ITD sarcoma are limited, treatment decisions should be made on an individual basis, taking into account factors such as tumor size, location, and patient age.

References:

[1] CR Antonescu et al. (2020). First-line chemotherapy consisted of the vincristine-actinomycin-D (VA) combination, as given for infantile fibrosarcoma, in 3 cases, subsequently followed by a five-drug therapy consisting of vincristine, doxorubicin, etoposide, ifosfamide, and actinomycin-D.

[2] S Omar et al. (2022). A two-year-old girl and a 16-year-old boy were treated using a five-drug therapy consisting of vincristine, doxorubicin, etoposide, ifosfamide, and actinomycin-D.

[3] M Sparber-Sauer et al. (2023). Analysis of 60 young patients with these very rare sarcomas.

[4] A Kyriazoglou et al. (2021). Meta-analysis of the current reports dealing with the therapeutic approach of BCOR rearranged sarcomas.

Differential Diagnosis of BCOR ITD Sarcoma

BCOR internal tandem duplication (ITD) sarcomas are a type of cancer that can be challenging to diagnose due to their rarity and similarity in appearance to other types of tumors. The differential diagnosis for BCOR ITD sarcoma includes several conditions that can mimic its appearance, making it essential to consider these possibilities when evaluating patients with suspected BCOR ITD sarcoma.

Conditions that Can Mimic the Appearance of BCOR ITD Sarcoma

• Ewing Sarcoma: This is a type of bone cancer that can also present with a similar histological appearance to BCOR ITD sarcoma. Ewing sarcoma is characterized by small, round cells and can be distinguished from BCOR ITD sarcoma through molecular testing.
• Primitive Myxoid Mesenchymal Tumor of Infancy (PMMTI): This is a rare type of tumor that typically affects infants and young children. PMMTI can present with a similar histological appearance to BCOR ITD sarcoma, but it is distinguished by its characteristic myxoid stroma.
• Clear Cell Sarcoma of the Kidney (CCSK): CCSK is a rare type of kidney cancer that can also present with a similar histological appearance to BCOR ITD sarcoma. CCSK is characterized by clear cells and can be distinguished from BCOR ITD sarcoma through molecular testing.

Key Points to Consider

• Molecular Testing: Molecular testing is essential for distinguishing BCOR ITD sarcoma from other types of tumors that may mimic its appearance.
• Histological Appearance: The histological appearance of BCOR ITD sarcoma can be similar to other types of tumors, making it essential to consider the differential diagnosis when evaluating patients with suspected BCOR ITD sarcoma.

References

• [1] CR Antonescu et al. (2020). Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: a clinicopathologic and molecular study.
• [2] A Al-Ibraheemi et al. (2021). BCOR ITD is also described in adult tumors including uterine sarcomas, and BCOR ... The differential diagnoses for CCSK, PMMTI, and HGNET-BCOR ITDex15 are broad.
• [3] CR Antonescu et al. (2020). Until recently, undifferentiated round cell sarcomas (URCS) in infants have been considered a type of cancer that can be challenging to diagnose due to their rarity and similarity in appearance to other types of tumors.

Note: The references provided are based on the information available within the search results and may not reflect the most up-to-date or comprehensive information on this topic.