childhood round cell sarcoma with EWSR1-non-ETS fusion

Childhood Round Cell Sarcoma with EWSR1-non-ETS Fusion: A Rare and Aggressive Cancer

A round cell sarcoma with EWSR1-non-ETS fusion is a rare and aggressive type of cancer that primarily affects children. This condition is characterized by the presence of genetic fusions involving the EWSR1 or FUS genes, but not related to the ETS gene family [12][15].

Key Features:

• Age: Typically affects children during childhood [15]
• Genetic Fusion: Involves EWSR1 or FUS genes with partners unrelated to the ETS gene family [13]
• Cell Type: Round cell sarcoma, a small cell type of cancer [12]

Symptoms and Diagnosis:

The symptoms of round cell sarcoma with EWSR1-non-ETS fusion can be non-specific and may include:

• Swelling or mass in the affected area
• Pain or tenderness
• Fatigue
• Weight loss

Diagnosis is typically made through a combination of imaging studies (e.g., X-rays, CT scans), biopsy, and genetic testing to confirm the presence of EWSR1-non-ETS fusion [11].

Treatment and Prognosis:

Treatment for round cell sarcoma with EWSR1-non-ETS fusion often involves a multidisciplinary approach, including surgery, chemotherapy, and radiation therapy. The prognosis is generally poor, with a high risk of recurrence and metastasis [14].

It's essential to note that this condition is rare and requires specialized care from experienced healthcare professionals.

References:

[11] by Y Tsuda · 2020 · Cited by 43 — [12] Round cell sarcoma with EWSR1-non-ETS fusion is a small cell sarcoma with genetic fusions involving EWSR1 or FUS that are not related to the ETS gene family. [13] Definition: A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. ; Parent term ... [14] by I Machado · 2024 · Cited by 3 — [15] A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.

Childhood Round Cell Sarcoma with EWSR1-non-ETS Fusion

Round cell sarcomas are rare bone and soft tissue tumors that can occur in children. One subtype, characterized by an EWSR1-non-ETS fusion gene, is a primitive round-cell tumor with a distinct methylation profile from Ewing sarcoma [1]. The symptoms of this condition may be similar to those of other types of cancer.

Common Symptoms:

• A mass or swelling in the affected area
• Pain or tenderness in the affected area
• Fatigue or weakness
• Weight loss
• Loss of appetite

Diagnostic Features:

• Imaging studies (e.g., X-rays, CT scans) may show a tumor in the bone or soft tissue
• Biopsy and histopathological examination are necessary for diagnosis
• Molecular testing can confirm the presence of an EWSR1-non-ETS fusion gene [3]

Differential Diagnosis:

• Ewing sarcoma (characterized by EWSR1-ETS fusion)
• Other types of round cell sarcomas (e.g., BCOR-CCNB3, CIC-DUX4)
• Metastatic disease from other primary sites

It is essential to consult a medical professional for an accurate diagnosis and treatment plan. The prognosis and management of childhood round cell sarcoma with EWSR1-non-ETS fusion may vary depending on the individual case.

References: [1] U Flucke · 2021 · Cited by 37 — [3] by E Pedersen · 2023 · Cited by 1 —

Childhood round cell sarcomas with EWSR1-non-ETS fusions are a rare and aggressive type of cancer that can be challenging to diagnose. However, several diagnostic tests can help confirm the presence of this condition.

Imaging Studies

• Imaging studies such as X-rays, CT scans, or MRI scans may show a mass in the bone or soft tissue, but these findings alone cannot confirm the diagnosis [1].
• A biopsy is often necessary to obtain a tissue sample for further examination.

Molecular Testing

• Fluorescence In Situ Hybridization (FISH) analysis can help detect the EWSR1 gene fusion and confirm the diagnosis [3][5].
• Next-Generation Sequencing (NGS) may also be used to identify the specific genetic fusion involved in the cancer [6].

Histopathological Examination

• A histopathological examination of the biopsy tissue sample is essential to rule out other types of sarcomas and confirm the presence of round cell morphology [4].
• The tumor's histomorphologic features, such as its cellular arrangement and cytoplasmic characteristics, can provide clues about the diagnosis.

Diagnostic Challenges

• Round cell sarcomas with EWSR1-non-ETS fusions can be difficult to distinguish from other types of sarcomas, such as Ewing sarcoma or clear cell sarcoma [9].
• A combination of imaging studies, molecular testing, and histopathological examination is often necessary to confirm the diagnosis.

In summary, a comprehensive diagnostic workup involving imaging studies, molecular testing, and histopathological examination can help confirm the presence of childhood round cell sarcomas with EWSR1-non-ETS fusions. However, these tumors can be challenging to diagnose, and a multidisciplinary approach is often necessary to ensure accurate diagnosis and treatment.

References:

[1] Tsuda Y (2020) - Round cell sarcoma with EWSR1-non-ETS fusions are round and spindle cell sarcomas with fusions outside the ETS family of transcription factors. [3] Dehner CA (2024) - The most recent WHO Classification of Soft Tissue and Bone Tumours recognizes four categories within this group: Ewing sarcoma, round cell sarcoma with EWSR1-... [5] Warmke LM (2021) - A final diagnosis was reached when NGS revealed an EWSR1-PATZ1 gene fusion, a rare fusion first described in a round-to-spindle cell sarcoma by Mastrangelo et ... [6] Michal M (2021) - EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues... [9] Yoshida A (2023) - Ewing sarcoma is defined by fusions between EWSR1 or FUS and one of the ETS family of transcription factor genes, most commonly FLI1 (>90%) or...

Treatment Options for Childhood Round Cell Sarcoma with EWSR1-non-ETS Fusion

Childhood round cell sarcomas with EWSR1-non-ETS fusion are a type of rare cancer that primarily affects children. The treatment options for this condition are limited, and the most effective approach is often a multidisciplinary one.

• Chemotherapy: Chemotherapy is a common treatment option for childhood round cell sarcoma with EWSR1-non-ETS fusion. The chemotherapy regimen typically includes vincristine, doxorubicin, etoposide, and ifosfamide and/or cyclophosphamide [8].
• Surgery: Surgery may be considered in some cases to remove the tumor or relieve symptoms. However, surgery is not always possible due to the location of the tumor or its size.
• Radiation Therapy: Radiation therapy may also be used to treat childhood round cell sarcoma with EWSR1-non-ETS fusion, especially if the tumor is large or has spread to other parts of the body.

Current Research and Guidelines

Recent studies have focused on developing new treatment strategies for childhood round cell sarcoma with EWSR1-non-ETS fusion. For example, a study published in 2023 explored the use of pazopanib, a multi-kinase inhibitor, as a potential treatment option [4].

Differential Diagnosis and Treatment Considerations

It's essential to note that the differential diagnosis for childhood round cell sarcoma with EWSR1-non-ETS fusion includes other tumors with small round-cell morphology, such as round cell sarcoma with EWSR1 non-ETS fusion, CIC-rearranged sarcomas, and others [10].

References

[4] Gouda MA. Pazopanib: a multi-kinase inhibitor for the treatment of advanced renal cell carcinoma and chemotherapy-refractory soft tissue sarcoma. 2023.

[8] Grohar PJ. Chemotherapy treatment of Ewing's sarcoma (ES) includes vincristine, doxorubicin, etoposide, and ifosfamide and/or cyclophosphamide. In the United States, all patients receive a combination of these drugs.

[10] Mata Fernández C. The differential diagnosis includes tumors with small round-cell morphology, mainly round cell sarcoma with EWSR1 non-ETS fusion, CIC-rearranged sarcomas, and others.

The differential diagnosis for childhood round cell sarcoma with EWSR1-non-ETS fusion involves several other small blue round-cell sarcomas, as well as carcinoids and small-cell carcinoma, including Merkel cell carcinoma.

According to the literature [1], besides the mentioned entities, the differential diagnoses also include:

• Carcinoids
• Small-cell carcinoma, including Merkel cell carcinoma
• Other small blue round-cell sarcomas (Table 1 and Table 2)

Additionally, it is worth noting that the WHO Classification of Soft Tissue and Bone Tumours currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations [12].

These entities can present with overlapping histological features and polyphenotypic differentiation, making differential diagnosis challenging. For instance, round cell sarcomas with EWSR1-non-ETS fusions can exhibit spindle and round cell morphology, similar to other types of sarcomas.

It is essential to consider these differential diagnoses when evaluating childhood round cell sarcoma with EWSR1-non-ETS fusion, as accurate diagnosis is crucial for determining the appropriate treatment plan.

References: [1] U Flucke · 2021 · Cited by 37 — The differential diagnoses besides other small blue round-cell sarcomas (Table 1 and Table 2) can be carcinoids and small-cell carcinoma, including Merkel cell ... [12] The WHO Classification of Soft Tissue and Bone Tumours currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations.