What is NUTM1-Rearranged Thyroid Carcinoma?
NUTM1-Rearranged Thyroid Carcinoma is an extremely rare and aggressive cancer of the thyroid gland. The thyroid is a small, butterfly-shaped gland located in the front of the neck that helps control the body’s metabolism, energy levels, and growth.
In this condition, the cancer cells contain an abnormal genetic change involving the NUTM1 gene, where it becomes fused or rearranged with another gene. This genetic rearrangement causes the thyroid cells to lose normal control over growth and division, leading to fast-growing cancer.
Incidence
This type of thyroid cancer can affect both children and adults, but many reported cases involve young or middle-aged individuals. Because it is so rare, it is often not recognized immediately and may be mistaken for other aggressive thyroid cancers. Unlike common thyroid cancers, which usually grow slowly and have a good outcome, NUTM1-rearranged thyroid carcinoma behaves more aggressively.
Symptoms
The illness often begins with a rapidly enlarging lump in the neck. The swelling may grow over weeks rather than months. As the tumour increases in size, it can press on nearby structures, leading to difficulty in swallowing, hoarseness of voice, breathing problems, or a choking sensation.
Pain in the neck or throat may also occur. Some people experience unexplained weight loss, tiredness, or general weakness as the disease progresses. If the cancer spreads to lymph nodes, firm swellings may appear on the sides of the neck.
Diagnosis
To identify this cancer, imaging tests such as ultrasound, CT scan, or MRI are used to examine the thyroid mass and nearby lymph nodes.
A biopsy is essential to confirm the diagnosis. Under the microscope, the tumour appears poorly differentiated, meaning the cells look very abnormal. Special laboratory tests are then used to detect the NUTM1 gene rearrangement, which confirms the diagnosis and separates it from other thyroid cancers.
Treatment
Treatment is challenging because of the aggressive nature of this disease. Surgery is usually performed to remove the thyroid tumour and affected lymph nodes if possible. This is often followed by radiation therapy and chemotherapy to control remaining cancer cells.
Unlike many thyroid cancers, this type usually does not respond well to radioactive iodine therapy. Newer targeted treatments aimed at the NUTM1 pathway are being studied and may offer hope in selected cases.
Prognosis
The outlook for NUTM1-rearranged thyroid carcinoma is generally serious, as the cancer tends to grow and spread quickly. However, early diagnosis, aggressive treatment, and access to specialised care can help improve survival and quality of life.
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