What is SMARCB1-Deficient Sinonasal Carcinoma?
SMARCB1-deficient sinonasal carcinoma is a very rare and aggressive type of cancer that develops in the nasal cavity or the sinus areas around the nose. The term “SMARCB1-deficient” means that the tumour cells have lost a specific gene called SMARCB1, which normally helps control cell growth. When this gene is missing or not functioning properly, cells can grow uncontrollably and form a cancer.
This tumour is genetically different from other nasal cancers and is considered a distinct disease. It is not the same as the more common types of sinus cancers.
Incidence
This cancer is extremely rare. It mostly affects adults, usually in middle age, though it can occur at different ages. Both men and women can develop it. Because it is uncommon and its symptoms resemble other sinus problems, diagnosis may sometimes be delayed.
Symptoms
The symptoms often look similar to common sinus conditions at first. A person may experience persistent nasal blockage on one side, frequent nosebleeds, facial pain or pressure, swelling around the eyes, headache, and reduced sense of smell.
As the tumour grows, it may spread to nearby structures. This can cause vision problems, double vision, facial numbness, or difficulty opening the mouth. Because the nasal cavity is a small space, symptoms may become noticeable relatively quickly.
Diagnosis
Diagnosis begins with imaging tests such as a CT scan or MRI to detect a mass in the nasal or sinus region. A biopsy is essential to confirm the diagnosis. Under the microscope, special testing shows the loss of the SMARCB1 protein, which confirms the condition. Additional scans are performed to check whether the cancer has spread to lymph nodes or other organs.
Treatment
Treatment usually requires a combination approach. Surgery is often performed to remove as much of the tumour as possible. Because this cancer is aggressive, radiation therapy is commonly added after surgery. Chemotherapy may also be used, especially in advanced cases.
Due to the tumour’s aggressive nature, treatment often needs to be intensive.
Prognosis
The prognosis can be serious because this cancer tends to grow quickly and may spread to nearby tissues or distant organs. However, early diagnosis and combined treatment (surgery plus radiation and chemotherapy) can improve outcomes. Regular follow-up is very important, as there is a risk of recurrence.
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