Are you aware of this rare cancer? Let's talk about NUT Carcinoma

Have you ever heard of NUT Carcinoma? Probably not. Because it is a rare, very rare, and fast-growing type of cancer. But it is very important to know about it, because this condition can develop in anyone. So today we will talk about it in a little more detail, as if we were talking to a friend.

What is NUT Carcinoma?

Simply put, NUT Carcinoma is a very fast-growing, aggressive type of cancer . It is considered the most aggressive of the squamous cell carcinomas. Now you may be wondering what squamous cells are. These are a type of cell found in our skin. Not only that, but some of the internal organs of our body are also covered by these cells.

This NUT Carcinoma is caused by a genetic mutation in our genes. To be precise, it is caused by a defect in a gene called NUTm1. You know, these genes give instructions to our cells on how to function. So, when there is a mistake in these instructions, that is, a mutation, even healthy cells start to turn into cancerous cells. Then these cancer cells gather and form tumors.

Most often, these NUT carcinomas develop in the middle of our body, or along the midline . That is why they were previously called NUT-midline carcinoma. However, these tumors can also develop in other parts of the body.

Where can these cancerous tumors develop?

People diagnosed with NUT Carcinoma have tumors in the following locations on their bodies:

• The head, especially in the sinuses (this is the most common)
• On the neck (this is also commonly seen)
• In the lungs (this is also common)
• In the middle part of the chest, the space where the heart and lungs are located (the mediastinum) (this is also common)
• Pancreas
• Kidneys
• Adrenal glands
• Stomach
• Bladder
• In the bones (Bones)

This cancer, called NUT Carcinoma , can grow and spread very quickly, even if it is treated . That is the most dangerous thing about it.

How rare is NUT Carcinoma?

This is actually considered a very rare cancer . However, there may be more patients than we think. The International NUT Midline Carcinoma Registry reports only 20 new cases per year.

One reason for this low number is the difficulty in diagnosing this disease. Scientists only discovered the main characteristic of this cancer, the mutation in the NUTm1 gene, in 2004. So, not all hospitals have the testing materials that can detect this gene.

Think of it like discovering a new disease. It takes a while for the right tests to become available everywhere.

Also, NUT Carcinoma is easily confused with other common types of cancer. It is only possible to accurately tell whether a cancer is NUT Carcinoma if the NUTm1 gene mutation is identified. Some people diagnosed with head and neck cancers, lung cancers, and some other types of cancer may actually have this gene mutation.

But now, because awareness of this type of cancer has increased, and because the technology to detect this genetic mutation has improved, it has become easier for cancer specialists to diagnose NUT carcinoma than before.

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Who gets NUT Carcinoma?

This cancer is most often diagnosed in young people . The median age at diagnosis is about 24 years. This means that about half of those diagnosed are under 24 years old, and the other half are older.

However, this cancer can develop in anyone . It has been found in newborn babies, and in people in their 80s. So it is not possible to think that it will not occur just based on age.

What are the symptoms of NUT Carcinoma?

Most of the time, this cancer doesn't show any symptoms in the early stages . Symptoms start to appear when the cancer has grown a little and started to affect the tissues around the tumor. At that time, you may usually feel tired and unwell.

Because tumors often develop in the sinus cavities and lungs, the most reported symptoms are related to them.

Common symptoms:

• Extreme fatigue/tiredness (Fatigue)
• Unexplained weight loss
• A painful mass

Symptoms of a sinus cyst:

• Sinus pressure, tightness, or pain
• Frequent nosebleeds
• Nasal congestion or stuffiness
• Losing your sense of smell

Symptoms of a lung tumor:

• Shortness of breath or trouble breathing
• Chronic cough (a persistent cough that does not go away)

Don't be afraid of NUT Carcinoma just because you have these symptoms. But if these symptoms persist,It is very important to definitely see a doctor and get advice.

What causes NUT Carcinoma?

This cancer is caused by the combination of two different genes, creating a strange hybrid gene (hybrid gene or fusion gene). In every patient with NUT Carcinoma, the gene NUTm1 is combined with another gene that is not supposed to be combined with it. The NUTm1 gene does not cause cancer on its own, but this newly formed hybrid gene is what causes cancer cells to grow.

In about 75% of people with NUT carcinoma, the NUTm1 gene is combined with the BRD4 gene. In about another 15%, the NUTm1 gene is combined with the BRD3 gene. Very rarely, it can be combined with other genes.

Scientists are still not sure what causes these genetic mutations. But one thing is clear: they are not inherited. Nor do common cancer risk factors, such as smoking and exposure to carcinogens, seem to be involved. More research is needed to understand what influences these genetic changes.

How is NUT Carcinoma diagnosed?

Doctors diagnose this disease through a biopsy. This involves taking a small tissue sample from the tumor using a special hollow needle. The sample is then sent to a lab to be tested for cancer cells.

Your doctor will also use special imaging procedures to look at the tumor inside your body and determine its stage. Cancer staging is the process of determining how serious the cancer is, based on the size of the tumor, its location, and whether it has spread (metastasized) from the primary tumor to other parts of the body. Cancer metastasis occurs when cancer cells break away from the original tumor, travel through the lymph fluid or bloodstream, and form new tumors in distant organs or tissues.

A CT scan and an MRI scan can show where the tumor is in the body. A PET scan can tell if the cancer has spread.

What tests are done to diagnose this disease?

A special test called Immunohistochemistry is performed in the laboratory to find out if the NUTm1 gene is present in the biopsy sample. If the NUTm1 gene is present in the sample (positive), it is diagnosed as NUT Carcinoma.

Other tests that can be done to identify this gene are the Fluorescence In Situ Hybridization (FISH) test or other special genetic tests.

How is NUT Carcinoma treated?

You can remove the tumor.Surgery and radiation therapy may be needed. If the cancer has spread beyond the tumor, chemotherapy may also be given. Often, one or more of these treatments are given together.

However, treating NUT carcinoma is very challenging. Often, even if treatment stops the cancer from getting worse, it will start to grow and spread again after a while.

The most important thing at times like this is to stay strong. We need to listen to what the doctors say and face this together with them.

If you are diagnosed with NUT Carcinoma, a clinical trial may be the best treatment option . Clinical trials are studies that test new treatments or approaches to treatment. Scientists are currently researching targeted therapy for NUT Carcinoma. Targeted therapy is a treatment that targets the genetic mutation that causes a healthy cell to become cancerous.

One of the targeted therapies for NUT carcinoma is BET inhibitors . These drugs target two genes, BRD4 and BRD3, that are commonly associated with the NUTm1 gene. These inhibitors, in combination with that gene NUTm1, stop the growth of cancer cells.

Can NUT Carcinoma be cured?

Unfortunately, there is no cure for NUT Carcinoma. It is a very fast-growing cancer that spreads quickly to other parts of the body. On average, people who receive treatment live for about 10 months after being diagnosed with the disease. Two to three out of every ten people diagnosed with NUT Carcinoma live for two years.

But, as with any cancer, your prognosis, or how well you will respond to treatment, depends on many factors. The location of the tumor, whether it can be completely removed with surgery or radiation therapy, and some studies have shown that other genes that are paired with the NUTm1 gene also play a role.

Your doctor will explain the goals of treatment based on your diagnosis.

How do I take care of myself?

It's important to surround yourself with people you trust and support during this time. Take advantage of all the resources available to help you navigate the challenges that come with this diagnosis.

Palliative care from your doctorLearn about services. Palliative care professionals can help you manage the new demands of your life due to this diagnosis. They can help you manage the side effects of chemotherapy and radiation treatments, and help you cope with the daily responsibilities that come with cancer.

Remember, you are not alone. Never hesitate to ask for help and support.

What questions should I ask my doctor?

There are many things you might want to ask your doctor at a time like this. Here are some examples:

• Has the cancer spread?
• Do I need to see a specialist or go to a specialized hospital for treatment?
• What kind of treatment do you recommend?
• What are the benefits and possible risks of treatment?
• What are the goals of treatment?
• Can you help me get other support services, including palliative care?

Treatment for NUT Carcinoma can often be intense. With frequent oncologist appointments and the stress of everyday life, coping with a cancer diagnosis can be difficult. Medical resources like palliative care can help. And reaching out to your loved ones can be a great source of strength. From the moment you receive your diagnosis, it is essential to talk openly with your cancer care team to understand the best care options going forward. Everyone's cancer experience is different. Your medical team is there to guide you through this challenging time.