What is NUT Midline Carcinoma?
NUT Midline Carcinoma is a rare and aggressive cancer caused by a genetic mutation. This mutation occurs when the NUT gene fuses with another gene, typically BRD4, leading to the production of abnormal proteins. These proteins drive uncontrolled cell growth, resulting in tumour development.
Causes
- The condition arises from a genetic mutation where the NUT gene fuses with another gene, most commonly BRD4.
- This mutation produces abnormal fusion proteins that lead to unregulated cell proliferation and tumour formation.
Signs and Symptoms
The symptoms vary depending on the tumour’s location and may include:
- Nasal congestion or blockage
- Loss of sense of smell
- Sinus pressure or discomfort
- Persistent cough
- Shortness of breath
- Chronic fatigue
- General discomfort
- Unintentional weight loss
Diagnosis
Diagnosing NUT Midline Carcinoma involves a series of tests:
1. Imaging Tests:
CT scans or MRIs help identify the tumour’s location, size, and blood supply.
2. Biopsy:
A tissue sample from the tumour is analysed under a microscope to confirm the diagnosis.
3. Immunohistochemistry:
Specialised tests are used to differentiate NUT carcinoma from other tumour types.
Treatment
- Surgery: Complete surgical removal of the tumour and affected tissues is the primary treatment.
- Radiation Therapy: Often used alongside surgery to reduce the risk of recurrence.
- Chemotherapy: Recommended for advanced or metastatic cases.
- New Targeted Therapies: Experimental drugs are being developed to inhibit NUT-fusion proteins, offering potential new treatment options.
Prognosis
- NUT Midline Carcinoma is highly aggressive, with an average survival time of 9–10 months.
- The 2-year survival rate is approximately 30%. Early diagnosis and advancements in targeted therapies are crucial for improving outcomes.
NUT Midline Carcinoma requires a comprehensive approach for diagnosis and treatment. Ongoing research into targeted therapies offers hope for better management and improved survival rates.
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