NUT carcinomacancer arising from tissues that line organs, also known as midline tract cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs or NUT midline carcinoma, is a rare type of carcinoma that is caused by a genetic mutation. More specifically, it is caused by the fusion of the NUTM1 (nuclear protein in testis) gene with another gene, most commonly the BRD4 (bromodomain containing 4) gene. This fusion may result in the production of an oncoprotein (proteins associated with the growth of cancer cellsthe basic structural and functional unit of all living things), causing a tumoura tissue mass that forms from groups of unhealthy cells to grow. The NUTM1 gene is found on chromosome 15 and is responsible for the production of specific proteins.
NUT carcinoma often develops from the squamous cells lining organs. It is most commonly found in the head, neck, and lungs. However, it can also develop in the organs of the mediastinumthe space between the lungs that holds many important structures, including the heart, trachea and oesophagus or the stomach.
Despite the name of the gene, this type of cancer develops equally in the sexes. It is commonly found in children, but can be diagnosed at any age.
Treatment
Due to the rarity of NUT carcinoma, there is no standard stagingthe process of determining how big the cancer is, where it started and if it has spread to other areas and grading system for this disease. Your doctor will check for signs of metastasiswhen the cancer has spread to other parts of the body, also known as mets, and how the cancer cells look under the microscope to help guide treatment options.
Your doctor may also recommend genetic testinga procedure that analyses DNA to identify changes in genes, chromosomes and proteins, which can be used to analyse tumour DNA to help determine which treatment has the greatest chance of success, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.
Treatment is dependent on several factors, including location, stage of disease and overall health.
Treatment options for NUT carcinoma may include:
- Surgerytreatment involving removal of cancerous tissue and/or tumours and a margin of healthy tissue around it to reduce recurrence – surgical options will vary based on tumour location.
- Radiation therapya treatment that uses controlled doses of radiation to damage or kill cancer cells.
- Chemotherapya cancer treatment that uses drugs to kill or slow the growth of cancer cells, while minimising damage to healthy cells.
- Clinical trialsresearch studies performed to test new treatments, tests or procedures and evaluate their effectiveness on various diseases.
- Palliative carea variety of practices and exercises used to provide pain relief and improve quality of life without curing the disease.
Risk factors
Because of how rare NUT carcinoma is, there has been limited research done into the riskthe possibility that something bad will happen factors of this disease.
Symptoms
The symptoms of NUT Carcinoma may vary based on location.
General symptoms may include:
- Unexplainable weight loss.
- Fatiguea state of extreme tiredness or exhaustion, can be physical or mental.
- Pain in the affected area.
- Dyspneadifficulty breathing, shortness of breath.
- Persistent cough.
- Coughing up bloodthe red bodily fluid that transports oxygen and other nutrients around the body.
- Pleural effusionabnormal fluid build-up in the pleural space, which can cause chest pain and breathing difficulties.
Not everyone with the symptoms above will have cancer but see your general practitioner (GP) if you are concerned.
Diagnosis/diagnosing
If your doctor suspects you have NUT carcinoma, they may order the following tests to confirm the diagnosisthe process of identifying a disease based on signs and symptoms, patient history and medical test results and refer you to a specialist for treatment:
- Physical examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Imagingtests that create detailed images of areas inside the body tests, potentially including:
- MRI (magnetic resonance imaging)a type of medical imaging that uses radiowaves, a strong magnet and computer technology to create detailed images of the body.
- CT (computed tomography) scana type of medical imaging that uses x-rays and computer technology to create detailed images of the body.
- PET (positron emission tomography) scana type of medical imaging that uses radioactive tracers to create detailed images of the body.
- Blood teststesting done to measure the levels of certain substances in the blood.
- Pulmonary function testa test that examines how well your lungs are working.
- Sputum cytologyan examination of sputum (or mucus) from your lungs to see if any cancer cells are present.
- Biopsyremoval of a section of tissue to analyse for cancer cells.