What is NUT carcinoma?
NUT carcinoma, formerly known as NUT-midline carcinoma, is a rare but very aggressive cancer that can develop anywhere in the body but usually starts in the head, neck, and lungs. It’s a squamous cell cancer — meaning it begins in squamous cells, which line hollow organs such as the windpipe and lungs — and is most common in young adults but can occur at any age.
NUT carcinoma’s defining characteristic is a genetic alteration known as a fusion oncogene, which occurs when parts of two genes get stuck together to form a cancer-causing gene. In the case of NUT carcinoma, the NUT gene is joined to another gene — usually BRD4, but sometimes other genes.
NUT carcinoma was identified in the early 2000s by researchers at Dana-Farber/Harvard Cancer Center (DF/HCC). In studying tumor cells from young patients with aggressive head and neck or squamous cell cancers, Christopher French, MD, and his colleagues found the abnormal fusion oncogene associated with the disease.
How common is NUT carcinoma?
NUT carcinoma has an incidence of about 1,400 cases in the United States each year. As better detection and diagnostic tools become more available, experts believe that it may be more common than that figure indicates. Since the disease is rare and requires specialized lab tests to diagnose, many patients may initially be misdiagnosed with other types of head and neck or lung cancers.
What are the symptoms of NUT carcinoma?
In its early stages, NUT carcinoma often doesn’t produce any symptoms. 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, such as:
- painless lump
- pain
- persistent cough
- shortness of breath
- nasal congestion or obstruction
These symptoms can also be caused by many unrelated conditions. The best way to identify the cause of any new symptoms is to talk with your doctor.
How is NUT carcinoma diagnosed and treated?
Diagnosis involves testing tumor cells for the NUT fusion gene using a variety of specialized techniques. At Dana-Farber, specialists develop a personalized treatment plan for each patient. Treatment may include:
- Chemotherapy
- Radiation therapy
- Surgery
- Combination of the above
Patients may also choose to participate in a clinical trial. DF/HCC offers one of the largest and most active clinical trial programs available, including trials for people with NUT carcinoma.
How is Dana-Farber working to develop new treatments for NUT carcinoma?
Researchers at Dana-Farber Cancer Institute are working to advance the care and treatment of NUT carcinoma patients through clinical trials and the latest new therapies, often stemming from research from our very own labs.
Some recent findings by Dana-Farber investigators include:
- A 2025 study that summarizes the multiple areas of basic and clinical research evidence for reclassifying NUT carcinoma to a subtype of squamous non-small cell lung cancer and head and neck squamous cell carcinoma. This will help improve recognition and accelerate the development of effective therapies.
- A 2025 study that found that about 3/4 of NUT carcinomas are not initially picked up by clinicians and found that nearly all NUT carcinomas are presented as a poorly differentiated/ squamous cancer arising from the lungs, head, or neck.
- The first-of-its-kind 2024 study that analyzes the genomic composition of NUT carcinoma to identify key characteristics on the DNA level. Findings confirm IHC testing is gold standard, and RNA sequencing is also diagnostic. Characterizing the large database of NUT carcinoma cases could provide guidance for future effective treatments.
- A 2024 study that estimates the incidence of NUT carcinoma to be about 1,400 cases per year in the United States.
- A 2024 case report of a patient who had a never before described oncogene BRD2-NUTM1 driven NUT carcinoma who received multiple lines of chemotherapy plus a drug known as a BET bromodomain inhibitor, which blocks the production of proteins that spur tumor cell growth. This patient responded to treatment better than most patients with NUT carcinoma.
- A 2024 study that examines the outcomes of chemotherapy for locally advanced and metastatic NUT carcinoma. Long term survivors had non-metastatic disease and multi-modal treatment, suggesting that all patients with NUT carcinoma and non-metastatic diagnosis should be seen at a large academic center with a multidisciplinary team that commonly sees NUT carcinoma.
- A 2023 study that developed an immunocompetent model of NUT carcinoma that nearly copies the disease to be used as a future resource for preclinical studies to aid new treatments.
- A 2023 preclinical study that uses a combination of two targeted cancer drugs — EZH2 and BET inhibitors — for future clinical treatment of NUT carcinoma. The drug pairing reduced the growth of the tumor to increase the survival of NUT carcinoma patients.
About the Medical Reviewer
Dr. Luo is a medical oncologist who specializes in care of people with lung cancer. Her approach to clinical care and research is informed by her unique background - learning laboratory research, programming, and clinical research skills during her training at institutions across the country. Dr. Luo strives to provide personalized compassionate care for patients and their families. Her research focuses on developing better treatments and treatment strategies by studying the genetic and immune characteristics of lung cancers. She also leads and develops clinical trials testing anticancer medicines that target cancers driven by these changes. Dr. Luo works with colleagues spanning the specialties involved in the care of people with lung cancer to develop the best treatment plans to increase the chance of cure.