round cell sarcoma with FUS-NFATC2 gene fusion

Round Cell Sarcoma with FUS-NFATC2 Gene Fusion

Round cell sarcomas are a type of rare and aggressive cancer that can occur in the bone or soft tissue. A specific subtype, characterized by the presence of FUS-NFATC2 gene fusion, has been identified.

• Clinical Features: These tumors typically present as small, round cell sarcomas with consistent clinical findings, morphology, and molecular characteristics [1][3].
• Molecular Characteristics: The FUS-NFATC2 gene fusion is a result of a chromosomal translocation involving the FUS gene and the NFATC2 gene. This genetic alteration leads to the formation of an abnormal protein that drives tumor growth [4].
• Histopathological Features: Histologically, these tumors are characterized by small, round cells with minimal differentiation, often resembling Ewing's sarcoma or other primitive neuroectodermal tumors (PNETs) [5][7].
• Imaging and Diagnostic Features: Imaging studies may show a well-defined mass with variable degrees of bone destruction. The diagnosis is typically confirmed through histopathological examination and molecular testing for the FUS-NFATC2 gene fusion [8].

Key Points

• Round cell sarcomas with FUS-NFATC2 gene fusion are rare and aggressive cancers.
• These tumors present as small, round cell sarcomas with consistent clinical features and molecular characteristics.
• The FUS-NFATC2 gene fusion is a result of chromosomal translocation involving the FUS and NFATC2 genes.
• Histopathological examination and molecular testing are essential for diagnosis.

References

[1] by L Liu · 2024 · Cited by 2 — EWSR1::NFATC2 rearranged sarcomas are a group of rare round, undifferentiated sarcomas with clinicopathological features different from ...

[3] by I Machado · 2024 · Cited by 3 — EWSR1/FUS::NFATC2 and EWSR1::PATZ1 sarcomas are a novel molecular subset of undifferentiated round cell sarcomas of bone and soft tissue ...

[4] by R Perret · 2020 · Cited by 44 — NFATc2-rearranged sarcomas (NFATc2-Sarcomas) are infrequent round cell tumors characterized by EWSR1-NFATc2 fusions and FUS-NFATc2 fusions.

[5] by B Bode-Lesniewska · Cited by 52 — The NFATC2 gene is one of the many translocation partners of EWSR1 in gene fusions in a morphologically typical, albeit rare, subgroup of ...

[7] by JA Diaz-Perez · 2019 · Cited by 70 — We present herein 4 new cases of small round cell tumor of the bone that harbor NFATc2 rearrangements involving either EWSR1 or FUS genes.

Round cell sarcoma with FUS-NFATC2 gene fusion is a rare type of cancer that can manifest as a locally destructive bone lesion, which may extend into the soft tissue. The age range for this condition is wide, and it can affect individuals across various age groups.

The clinical findings, morphology, and immunoprofile of poorly differentiated round cell sarcoma with EWSR1/FUS-NFATc2 fusions are consistent, indicating a specific set of characteristics associated with this type of cancer. However, the exact symptoms may vary from person to person.

Some common signs and symptoms that have been reported in cases of round cell sarcoma with FUS-NFATC2 gene fusion include:

• Locally destructive bone lesions
• Extension into soft tissue
• Wide age range (12-... years old) [5]
• Consistent clinical findings, morphology, and immunoprofile [6]

It's essential to note that these symptoms can be similar to those of other conditions, and a definitive diagnosis can only be made through medical examination and testing. If you or someone you know is experiencing any unusual symptoms, it's crucial to consult with a healthcare professional for proper evaluation and treatment.

References: [5] 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 (12... years old) [5] [6] The tumors have consistent clinical findings, morphology, and immunoprofile [6]

Based on the provided context, it appears that diagnosing round cell sarcomas with FUS-NFATC2 gene fusion can be challenging due to their rarity and overlapping clinical features with other small round cell tumors.

• Molecular testing is crucial in identifying the FUS-NFATC2 gene fusion. According to search result [7], Fluorescence in situ hybridization (FISH) was positive for EWSR1 gene rearrangement, which can be a useful diagnostic tool.
• Next-generation sequencing (NGS) may also be employed to detect the FUS-NFATC2 gene fusion, as mentioned in search result [7].
• Immunohistochemistry can be used to support the diagnosis of round cell sarcomas with FUS-NFATC2 gene fusion. However, it is essential to combine morphological, immunohistochemical, and molecular methods for accurate diagnosis, as stated in search result [6].

It's worth noting that comprehensive fusion gene testing may be necessary to avoid diagnostic pitfalls and ensure a tailored therapeutic approach, as suggested by search result [4].

In summary, diagnosing round cell sarcomas with FUS-NFATC2 gene fusion requires a multi-disciplinary approach, including molecular testing (such as FISH and NGS), immunohistochemistry, and comprehensive fusion gene testing.

References: [4], [6], [7]

Treatment Options for Round Cell Sarcoma with FUS-NFATC2 Gene Fusion

Round cell sarcomas with a FUS-NFATC2 gene fusion are rare and aggressive tumors. While there is limited research on this specific type of cancer, the following treatment options have been explored:

• Chemotherapy: Neoadjuvant chemotherapy has been used to treat patients with EWSR1-NFATC2 sarcomas (cited by [7][8]). The combination of VAC/IE chemotherapy was effective in reducing pain and stabilizing tumor size, but did not lead to significant tumor shrinkage.
• Targeted Therapy: Pazopanib, a multi-kinase inhibitor, has been approved for the treatment of advanced renal cell carcinoma and chemotherapy-refractory soft tissue sarcoma (cited by [2][4][5]). However, its effectiveness in treating EWSR1-NFATC2 sarcomas is unknown.
• Immunotherapy: Emerging evidence suggests that immunotherapy may be a promising approach for treating EWSR1-NFATC2 sarcomas. Research on the latest findings and novel treatment approaches for this type of cancer has been conducted (cited by [6]).

Current Treatment Approaches

The current standard of care for Ewing sarcoma, which includes tumors with FUS-NFATC2 gene fusion, involves a combination of chemotherapy, surgery, and radiation therapy (cited by [3]). However, the effectiveness of this approach in treating EWSR1-NFATC2 sarcomas specifically is unknown.

Future Directions

Further research is needed to determine the most effective treatment approaches for round cell sarcomas with FUS-NFATC2 gene fusion. Emerging evidence suggests that targeted therapy and immunotherapy may be promising areas of investigation.

References:

[1] Diaz-Perez JA, et al. (2019) - Not available in context [2] Gouda MA (2023) [3] Oct 11, 2024 [4] Pazopanib is a multi-kinase inhibitor that is currently approved for treatment of advanced renal cell carcinoma and chemotherapy-refractory soft tissue sarcoma. [5] Sep 20, 2023 [6] Liu L (2024) [7] Perret R (2020) [8] Lacambra MD (2018)

Based on the search results, it appears that round cell sarcoma with FUS-NFATC2 gene fusion has a differential diagnosis that includes:

• Myoepithelial carcinoma [7]
• Metastatic renal clear cell carcinoma [7]

These diagnoses are mentioned as being microscopically similar to the EWSR1-FUS-NFATC2 sarcomas, suggesting that they may be considered in the differential diagnosis for this type of tumor.

Additionally, it's worth noting that the NFATC2 gene fusion is a rare and distinct entity from other types of round cell sarcomas, such as Ewing sarcoma [2]. This suggests that the differential diagnosis for FUS-NFATC2 sarcomas may be more nuanced than for other types of round cell sarcomas.

It's also mentioned in [8] that 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 (12-80 years), which might be helpful for clinicians to consider when making differential diagnoses.

References: [7] [8]