What is CIC-DUX4 Sarcoma?
CIC-DUX4 Sarcoma is a rare and aggressive cancer that usually develops in the soft tissues of the body, especially in the arms, legs, trunk, or deep muscles. It mainly affects children and young adults, although it can occur at any age. The tumour is caused by an abnormal fusion of the CIC and DUX4 genes, which leads to uncontrolled growth of cancer cells. It is different from Ewing Sarcoma because it has different genetic features and behaves more aggressively.
Causes
The exact cause is not fully known. The disease occurs because of a genetic change inside the tumour cells where the CIC gene joins with the DUX4 gene. This abnormal fusion activates cancer growth. The condition is usually not inherited and is not linked to injury or infection.
Signs and Symptoms
Most patients develop a rapidly growing lump or swelling in the soft tissues. Pain, tenderness, weakness, difficulty moving the affected area, fatigue, and weight loss may also occur. If the cancer spreads to the lungs, patients can develop cough, chest pain, or shortness of breath.
Diagnosis
Diagnosis is confirmed through a biopsy and laboratory testing. Imaging tests such as MRI, CT scan, and PET/CT help determine the size and spread of the tumour. Under the microscope, the tumour usually shows small round or oval cells with high mitotic activity and areas of necrosis.
Immunohistochemistry often shows positivity for CD99, WT1, DUX4, and ETV4. Molecular tests such as FISH or RT-PCR are used to confirm the CIC-DUX4 gene fusion.
Treatment
Treatment mainly includes surgical removal of the tumour. Chemotherapy and radiation therapy may also be used, although this sarcoma often responds less effectively to chemotherapy compared to Ewing Sarcoma. Regular follow-up is important because the tumour has a high risk of recurrence and spread, especially to the lungs.
Prognosis
CIC-DUX4 Sarcoma is an aggressive cancer with a poorer prognosis than many other round cell sarcomas. It commonly spreads to the lungs and has a high recurrence rate. Early diagnosis and complete treatment can improve survival outcomes.
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