What Is NUT Carcinoma?
NUT carcinoma, formerly known as NUT-midline carcinoma (NMC), is a rare form of cancer that can form anywhere in the body, but often forms along the midline structures (head, neck, or lungs).
NUT carcinoma is an undifferentiated or poorly differentiated squamous cell cancer, meaning the cancer begins in normal squamous cells in the body. Squamous cells normally line hollow organs, such as the respiratory tract. NUT carcinoma is defined by a specific genetic alteration known as a fusion oncogene. A fusion oncogene is made by joining parts of two different genes together. In the case of NUT carcinoma, the NUT gene is joined to another gene (usually BRD4, but in some cases BRD3, NSD3, or other genes). This gene fusion causes the formation of abnormally activated NUT proteins that lead to aberrant squamous cell growth.
Epidemiology of NUT Carcinoma
NUT carcinoma was first discovered and characterized here in Boston in the early 2000s by members in our group, and is a rare diagnosis; the exact incidence is unknown. Improvements in diagnostic technology and increased awareness of the disease have led to more accurate identification and increased incidence of diagnosis. Over half of the known cases of NUT carcinoma have been discovered since 2010.
Causes of NUT Carcinoma
We do not know for certain what causes the NUT fusion oncogene to form. It does not currently appear to be linked to any environmental exposures, such as an infection or contact with a chemical or toxin. NUT carcinoma is also not hereditary, meaning it is not passed down in families. The development of NUT carcinoma seems to be a random, unprovoked event.
Symptoms of NUT Carcinoma
NUT carcinoma often does not have symptoms in its early stages.
As the cancer grows, symptoms such as fatigue and weight loss may develop. Depending on the location of the tumor(s) within the body, other symptoms may occur. These include a painless lump, pain, persistent cough, shortness of breath, and nasal congestion or obstruction.
Diagnosis of NUT Carcinoma
Making an accurate diagnosis of NUT carcinoma is the first step in developing a treatment plan. The diagnosis of NUT carcinoma requires specific and sensitive testing of the tumor biopsy by a pathologist. This includes testing for the NUT fusion protein using specialized techniques called immunohistochemistry (IHC) testing or fluorescence in situ hybridization (FISH) and/or DNA genetic sequencing that can identify the NUT fusion gene.
Prognosis of NUT Carcinoma
NUT carcinoma is often resistant to treatment. The median survival time from diagnosis is approximately 6 to 7 months; this means that about half of patients live longer than 6 to 7 months and half shorter. How advanced the disease is when it is diagnosed, the genetic mutations within the tumor, and the location of the disease within the body play an important role in prognosis. New treatments targeting the molecular underpinnings of NUT carcinoma are being tested in clinical trials.
Personalized Medicine in NUT Carcinoma
Your NUT carcinoma treatment team will develop a personalized treatment plan based on you and your needs. Our specialists work closely together and collaborate regularly to ensure that your care plan offers the best possible outcomes. We encourage you to be actively involved in the decision-making process.
Treatment Approaches to NUT Carcinoma
Your treatment plan may include:
- Participation in a clinical trial
- Radiation therapy
- Combinations of the above
The right treatment plan for you depends on many factors, including the size and location of the tumors.