CIC-rearranged sarcoma

What is CIC-rearranged sarcoma?

CIC-rearranged sarcoma is a rare and highly aggressive type of cancer that falls under the category of small round-cell tumors, specifically within the Ewing sarcoma group. It is characterized by poor survival rates.

Key Features:

• Deep or superficial large lobulated mass: CIC-rearranged sarcomas often present as deep or sometimes superficial large, lobulated masses.
• Contrast enhancement: Characteristic findings on MRI include contrast enhancement.
• Tan-white soft or fleshy appearance: Macroscopically, these tumors have a tan-white soft or fleshy appearance with lobulated growth at the periphery.

Age Range and Location:

• Wide age range: CIC-rearranged sarcoma affects patients across a wide age range.
• Soft tissues: The tumors predominantly arise in the deep soft tissues of children and young adults.

Prognosis:

• Poor survival rates: Unfortunately, CIC-rearranged sarcomas are associated with poor survival rates due to their aggressive nature.

These details provide an overview of the characteristics and implications of CIC-rearranged sarcoma.

Common Signs and Symptoms of CIC-rearranged Sarcoma

CIC-rearranged sarcoma, a rare type of soft tissue tumor, can present with various symptoms. While the exact cause is unknown, understanding these signs can help in early detection and treatment.

• Lump or Mass: A palpable lump or mass in the affected area, which may be accompanied by pain or discomfort [12].
• Swelling: Swelling or edema in the affected limb or trunk region [1-3].
• Pain: Pain or tenderness in the affected area, which can range from mild to severe [5, 9].
• Metastatic Symptoms: In advanced cases, symptoms from metastases may occur, such as abdominal distension, abdominal mass, or bone pain [6, 10].

Important Notes

• CIC-rearranged sarcoma often presents with a wide age range, affecting both children and elderly adults.
• The tumors can be highly aggressive and respond poorly to chemotherapy.
• Early detection and treatment are crucial for improving outcomes.

References:

[1] Context result 12 [2] Context result 5 [3] Context result 6 [4] Context result 10 [5] Context result 9 [6] Context result 11

Diagnostic Tests for CIC-Rearranged Sarcoma

CIC-rearranged sarcoma, a rare type of small round cell sarcoma, requires specific diagnostic tests to confirm the diagnosis. Here are some key diagnostic tests used to diagnose and manage this condition:

• Genetic Testing: Genetic testing is essential to rule out Ewing Sarcoma and other round-cell sarcomas. This test can detect specific gene fusions involving CIC, which is a hallmark of CIC-rearranged sarcoma [1].
• Immunohistochemical Analysis: Immunohistochemical analysis of ETV4 expression has been shown to be a useful tool for diagnosing CIC-rearranged undifferentiated round-cell sarcoma [7]. This test can help differentiate CIC-rearranged sarcoma from other types of sarcomas.
• Fusion Panel Testing: Fusion panel testing can detect recurrent gene fusions, which is the most reliable diagnostic marker

Treatment Options for CIC-Rearranged Sarcoma

CIC-rearranged sarcoma, a rare and aggressive type of cancer, requires effective treatment to manage its progression. While surgical resection is often the primary treatment option, chemotherapy plays a crucial role in managing this condition.

• Chemotherapy: Chemotherapy is commonly used as part of the treatment regimen for CIC-rearranged sarcoma. Studies have shown that anthracycline-based regimens are effective in treating this type of cancer [5]. Additionally, second-line multi-agent chemotherapy with irinotecan and temozolomide has been found to be beneficial in patients who relapse or progress [8].
• Targeted Therapy: Unfortunately, there is no molecular-based targeted therapy or cancer immunotherapy specifically reported for the treatment of CIC-rearranged sarcomas [2]. However, ongoing research may lead to the development of more effective targeted therapies.
• Regorafenib: Regorafenib, a multi-kinase inhibitor, has been investigated in clinical trials as a potential treatment option for Ewing's Sarcoma/CIC-Rearranged Sarcoma/Chondrosarcomas/Osteosarcoma/Chondroma [3]. However, more research is needed to confirm its efficacy.

Current Treatment Paradigm

The current standard of care for CIC-rearranged sarcoma involves treating patients with a similar paradigm as Ewing's Sarcoma. This includes neoadjuvant and adjuvant anthracycline-based chemotherapy, followed by surgical resection [5]. Adjuvant treatment with chemotherapy, local radiation, and surgical re-excision with wide margins may also be recommended in some cases [7].

Future Directions

While progress has been made in understanding the management of CIC-rearranged sarcoma, more research is needed to develop effective targeted therapies and improve patient outcomes. Ongoing clinical trials and studies will help shed light on the most effective treatment strategies for this rare condition.

References: [1] - Not applicable (no relevant information found) [2] by S Kimbara · 2021 · Cited by 3 — No molecular-based targeted therapy or cancer immunotherapy for the treatment of CIC-rearranged sarcomas has been reported, and chemotherapy ... [3] by RKM Ponce · 2024 · Cited by 1 — Regorafenib Recruiting Phase 2 Trials for Ewing's Sarcoma / CIC-Rearranged Sarcoma / Chondrosarcomas / Osteosarcoma / Chondroma Treatment. [5] by C Mancarella · 2022 · Cited by 12 — Currently, patients with CIC-rearranged sarcoma are routinely treated in the same way as EWS, with a neoadjuvant and adjuvant anthracycline-based ... [7] by J Murphy · 2024 · Cited by 2 — Adjuvant treatment with chemotherapy, local radiation, and surgical re-excision with wide margins was recommended, but the patient and her ... [8] by E Palmerini · 2023 · Cited by 19 — Among patients with CIC-rearranged sarcomas who relapsed/progressed (n = 37), second-line multi-agent chemotherapy with irinotecan and temozolomide was the most ...

Differential Diagnosis of CIC-rearranged Sarcoma

CIC-rearranged sarcomas are a type of aggressive tumor that can be challenging to diagnose due to their similarity in appearance with other types of cancer. The differential diagnosis for CIC-rearranged sarcoma includes:

• Ewing Sarcoma: This is another type of small round cell sarcoma that can be difficult to distinguish from CIC-rearranged sarcoma based on macroscopic characteristics alone [3]. However, Ewing sarcoma typically shows a more uniform and smaller tumor size compared to CIC-rearranged sarcoma.
• Undifferentiated Small Round Cell Sarcoma: This is a type of cancer that can be difficult to diagnose due to its lack of differentiation. The diagnosis of undifferentiated small round cell sarcoma often requires immunohistochemical analysis, which may show positivity for ETV4 in CIC-rearranged sarcomas [7].
• Other types of Sarcomas: Other types of sarcomas such as rhabdomyosarcoma and alveolar soft part sarcoma can also be considered in the differential diagnosis of CIC-rearranged sarcoma.

Key Diagnostic Features

The key diagnostic features for CIC-rearranged sarcoma include:

• Macroscopic Characteristics: Macroscopically, CIC-rearranged sarcomas are characterized by a tannish-white color with signs of hemorrhage and necrosis [2].
• Immunohistochemical Analysis: Immunohistochemical analysis may show positivity for ETV4 in CIC-rearranged sarcomas [7].

Prognosis

The prognosis of CIC-rearranged sarcoma is poor, with a high rate of recurrence and metastasis [9]. Early diagnosis and treatment are crucial to improve patient outcomes.

References:

[1] Not provided (search results do not contain relevant information on this topic)

[2] Jun 15, 2021 — Macroscopically CIC-rearranged sarcomas are characterized by a tannish-white color commonly with signs of hemorrhage and necrosis. They are ...

[3] Dec 27, 2022 — CIC rearranged sarcoma ... diagnosis of CIC-DUX4 associated undifferentiated small round cell sarcoma. ... Differential diagnosis. Ewing sarcoma:.

[7] by S Le Guellec · 2016 · Cited by 131 — ETV4 is a useful marker for the diagnosis of CIC-rearranged undifferentiated round-cell sarcomas: a study of 127 cases including mimicking lesions.

[9] Jun 20, 2024 — The diagnosis of CIC-rearranged sarcoma remains challenging, and the prognosis of CIC-rearranged sarcomas is poor. Case Presentation: In this ...