What is a SMARCA4-Deficient Thoracic Tumour?
SMARCA4-Deficient Thoracic Tumour is a very rare and highly aggressive cancer that develops in the chest area, most commonly in the lungs or the tissues of the mediastinum, which is the central space between the lungs.
The name of this disease comes from a specific genetic problem involving the SMARCA4 gene, which normally helps control how cells grow, repair damage, and function properly. When this gene stops working, cells lose normal control and begin to grow rapidly, forming a dangerous tumour.
Incidence
This cancer is most often seen in young to middle-aged adults and is strongly linked to a history of heavy smoking, especially in men, although it can also occur in non-smokers. Because it is rare and newly recognised, it is sometimes confused with other lung cancers, which can delay diagnosis.
Symptoms
The symptoms usually appear quickly and become worse over a short period of time. People often develop persistent chest pain, shortness of breath, cough, or coughing up blood.
As the tumour grows, it may press on nearby structures, leading to difficulty in breathing, hoarseness of voice, or swelling of the face and neck. Many patients experience extreme tiredness, weight loss, fever, and night sweats, reflecting the aggressive nature of the disease. Fluid may collect around the lungs, causing further breathing problems.
Diagnosis
To identify this tumour, imaging tests such as CT scans or PET scans are used to locate the mass in the chest and check if it has spread. A biopsy is essential for diagnosis. Under the microscope, the tumour cells look very poorly formed and aggressive. Special laboratory tests show loss of SMARCA4 protein, which confirms the diagnosis and separates it from other thoracic cancers.
Treatment
Treatment is difficult because the tumour grows and spreads very fast. Chemotherapy and immunotherapy are commonly used, and some patients respond better to immunotherapy than to standard chemotherapy. Surgery is rarely possible because the disease is often advanced at the time of diagnosis.
Radiation therapy may be used to control symptoms such as pain or breathing difficulty. Research is ongoing to find targeted treatments that work specifically on SMARCA4-deficient tumours.
Prognosis
The outlook for this disease is generally poor, as it progresses rapidly and responds only partially to current treatments. However, early recognition and modern therapies, especially immunotherapy, may help extend survival and improve quality of life in some patients.
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