round cell sarcoma with EWSR1-NFATC2 gene fusion

Round cell sarcomas with EWSR1-NFATC2 gene fusion are a rare and distinct subtype of undifferentiated sarcomas.

• These tumors have consistent clinical findings, morphology, and molecular characteristics [1].
• They are characterized by the presence of EWSR1-NFATC2 rearrangement, which is a type of genetic mutation that involves the fusion of the EWSR1 gene with the NFATC2 gene [4][5].
• Round cell sarcomas with EWSR1-NFATC2 fusions are often round and undifferentiated, with clinicopathological features different from other types of sarcomas [2][3].
• They can occur in both bone and soft tissue, and have been reported to be associated with a range of clinical presentations [6].
• The EWSR1 gene is involved in the pathogenesis of various types of sarcomas, including Ewing sarcoma, desmoplastic small round cell tumors, and mesenchymal chondrosarcoma [7][8].

References: [1] JA Diaz-Perez · 2019 [2] L Liu · 2024 [3] L Liu · 2024 [4] M Shaheen · 2022 [5] I Machado · 2024 [6] H Tsuchie · 2022 [7] ND Seligson · 2021 [8] B Bode-Lesniewska

Round cell sarcoma with EWSR1-NFATC2 gene fusion is a rare type of cancer that can manifest in various ways. According to the search results, here are some signs and symptoms associated with this condition:

• Locally destructive bone lesions: Round cell sarcoma with EWSR1/FUS-NFATC2 fusion manifests as a locally destructive bone lesion that may extend into the soft tissue, with a wide age range [1].
• Soft tissue involvement: The tumor can extend into the soft tissue, which may lead to various symptoms such as pain, swelling, and limited mobility in the affected area.
• Abundant stroma: Some cases of EWSR1-NFATC2 fusion have been associated with abundant stroma, which can make it difficult to diagnose the tumor [3].
• Epithelioid-to-round cell morphology: The tumor cells may exhibit epithelioid-to-round cell morphology, which is a characteristic feature of this type of cancer [6].

It's essential to note that these symptoms and signs can vary depending on the individual case, and not everyone with EWSR1-NFATC2 fusion will experience all of them. If you or someone you know is experiencing any unusual symptoms, it's crucial to consult a medical professional for proper evaluation and diagnosis.

References: [1] SLM Ong (2021) - Round cell sarcoma with EWSR1/FUS-NFATC2 fusion manifests as a locally destructive bone lesion that may extend into the soft tissue, with a wide age range. [3] I Brcic (2022) - Fusion analysis revealed two FUS::NFATC2 rearrangements in two cystic lesions and three EWSR1::NFATC2 rearrangements in one complex cystic ... [6] EA Towery (2024) - This tumour shows uniform, epithelioid-to-round cells growing in cords and small clusters in a densely sclerotic stroma.

Round cell sarcomas with EWSR1-NFATC2 gene fusion are a rare and aggressive type of cancer. Diagnostic tests for this condition typically involve a combination of imaging studies, molecular genetic analysis, and histopathological examination.

Imaging Studies

• Computed Tomography (CT) scans: CT scans can help identify the location and size of the tumor, as well as any potential metastases [1].
• Magnetic Resonance Imaging (MRI): MRI scans can provide more detailed images of the tumor and surrounding tissues, which can be helpful in planning treatment [2].

Molecular Genetic Analysis

• Fluorescence In Situ Hybridization (FISH): FISH is a sensitive test that can detect EWSR1-NFATC2 gene fusions in tumor cells [3].
• Next-Generation Sequencing (NGS): NGS can also be used to identify EWSR1-NFATC2 gene fusions, as well as other genetic alterations that may be present in the tumor [4].

Histopathological Examination

• Biopsy: A biopsy is a procedure in which a small sample of tissue is removed from the tumor and examined under a microscope. This can help confirm the diagnosis of EWSR1-NFATC2 positive round cell sarcoma [5].
• Immunohistochemistry: Immunohistochemical staining can be used to identify specific proteins that are expressed in EWSR1-NFATC2 positive tumors, which can provide additional diagnostic information [6].

Other Diagnostic Tests

• Bone scan: A bone scan may be performed to evaluate the extent of any bone involvement or metastases.
• Complete Blood Count (CBC): A CBC may be ordered to assess the patient's overall health and identify any potential hematologic abnormalities.

It is essential to note that a definitive diagnosis of EWSR1-NFATC2 positive round cell sarcoma typically requires a combination of these diagnostic tests, as well as careful histopathological examination.

Based on the search results, it appears that there are limited treatment options available for round cell sarcomas with an EWSR1-NFATC2 gene fusion.

• According to a study published in 2024 [6], FUS::NFATC2 sarcoma has a worse prognosis than EWSR1::NFATC2 sarcoma. However, the treatment options mentioned are not specific to round cell sarcomas with an EWSR1-NFATC2 gene fusion.
• Another study published in 2021 [9] suggests that sarcomas harboring EWSR1-NFATc2 fusions have historically been categorized and treated as Ewing sarcoma. However, emerging evidence suggests unique characteristics of these tumors that may require tailored treatment approaches.

Regarding the specific treatment of round cell sarcomas with an EWSR1-NFATC2 gene fusion, there is limited information available in the search results. However, it appears that chemotherapy and targeted therapy may be considered as part of the treatment plan.

• A study published in 2019 [4] reports on a patient with an EWSR1-NFATc2 fusion who was treated with an mTOR inhibitor and achieved long-term remission.
• Another study published in 2023 [5] mentions pazopanib as a multi-kinase inhibitor that is currently approved for treatment of advanced renal cell carcinoma and chemotherapy-refractory soft tissue sarcoma. However, it is unclear whether this treatment would be effective for round cell sarcomas with an EWSR1-NFATC2 gene fusion.

In summary, the search results suggest that there are limited treatment options available for round cell sarcomas with an EWSR1-NFATC2 gene fusion. Chemotherapy and targeted therapy may be considered as part of the treatment plan, but further research is needed to determine the most effective approaches.

References:

[4] Nov 21, 2019 [5] Sep 20, 2023 [6] by L Liu · 2024 · Cited by 2 [9] by ND Seligson · 2021 · Cited by 19

Round Cell Sarcoma with EWSR1-NFATC2 Gene Fusion: Differential Diagnoses

The differential diagnosis for round cell sarcomas with EWSR1-NFATC2 gene fusion includes several conditions that can be distinguished from this rare tumor. Some of the closest differential diagnoses are:

• Myoepithelial carcinoma: This type of cancer is characterized by its epithelioid morphology and abundant stroma, which can be similar to round cell sarcomas with EWSR1-NFATC2 fusion [6].
• Metastatic renal clear cell carcinoma: The microscopic appearance of this tumor can also raise differential diagnostic considerations for round cell neoplasms with EWSR1::NFATC2 fusion [6].
• Sclerosing epithelioid fibrosarcoma: This rare tumor has a similar histological appearance to round cell sarcomas with EWSR1-NFATC2 fusion, and can be distinguished by its sclerotic stroma [6].

Key Features for Differential Diagnosis

To distinguish these conditions from round cell sarcomas with EWSR1-NFATC2 gene fusion, the following key features should be considered:

• Histological morphology: The presence of epithelioid cells and abundant stroma in myoepithelial carcinoma and sclerosing epithelioid fibrosarcoma can be similar to round cell sarcomas with EWSR1-NFATC2 fusion.
• Immunohistochemical markers: Specific immunohistochemical markers, such as S100 and HMB45, may help distinguish these conditions from round cell sarcomas with EWSR1-NFATC2 fusion [7].
• Genetic features: The presence of specific genetic alterations, such as the EWSR1-NFATC2 gene fusion, can be used to confirm the diagnosis of round cell sarcoma.

References

[6] by EA Towery · 2024 — This appearance is common in round cell neoplasms with EWSR1::NFATC2 fusion, and it raises the differential diagnostic consideration of sclerosing epithelioid fibrosarcoma. [7] by Cohen, J. N. et al. EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma: a case report and review of the literature. Hum. Pathol. 81 , 281 ...