NUT Carcinoma: Clinicopathologic features, pathogenesis, and treatment
1Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA.
Pathology International
|October 27, 2018
Summary
NUT carcinoma (NC) is a rare, aggressive cancer driven by NUTM1 gene rearrangements. While difficult to treat, diagnostic tests are improving, and BET bromodomain inhibitors show promise.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- NUT carcinoma (NC) is a rare, aggressive squamous cell carcinoma characterized by NUTM1 gene rearrangements.
- The cancer is driven by NUT-fusion oncoproteins, frequently BRD4-NUT, and predominantly affects adolescents and young adults.
- NC typically arises in the thorax and head and neck, presenting as primitive round cells with potential squamous differentiation.
Purpose of the Study:
- To summarize the key characteristics of NUT carcinoma.
- To highlight diagnostic methods and current therapeutic challenges.
- To discuss emerging treatment strategies for this rare cancer.
Main Methods:
- Review of existing literature and clinical data on NUT carcinoma.
- Analysis of diagnostic criteria, including immunohistochemical staining for NUT.
- Examination of therapeutic approaches, including targeted therapies.
Main Results:
- NC diagnosis is facilitated by NUT nuclear immunohistochemical staining, though molecular analysis of NUTM1-fusion genes is desirable.
- The NUT midline carcinoma registry provides crucial clinical and outcomes data.
- Currently, no definitive therapy exists, but BET bromodomain inhibitors targeting BRD4-NUT show activity.
Conclusions:
- NUT carcinoma is a distinct and aggressive entity requiring accurate diagnosis.
- Improved diagnostic test availability is increasing NC diagnoses.
- Targeting BRD4-NUT with BET inhibitors represents a promising therapeutic avenue for NC.
Keywords:
BET inhibitorBRD3BRD4-NUTNSD3NUT carcinomaNUT midline carcinomaZNF532differentiation therapyhistone acetyl-transferasehistone deacetylase inhibitorwww.NMCRegistry.orgMore Related Videos
Related Concept Videos
01:20COPD: Pathogenesis and Clinical Features
1.8K
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
1.8K
01:30Pulmonary Hypertension: Classification and Pathogenesis
645
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
645
01:20Asthma: Pathogenesis and Management
1.3K
Asthma is a chronic pulmonary condition involving inflammation of the airways, hyper-reactivity, and reversible obstruction of the airways. This condition can significantly impact a person's quality of life, making breathing difficult and leading to distressing symptoms.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
1.3K
01:23Cystic Fibrosis: Pathogenesis
874
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
874
01:20Special Features of Adaptive Immunity
3.3K
The adaptive immune system, a crucial component of the overall immune response, offers a highly specialized defense against pathogens. It involves specific cell types and features, enabling it to combat infections effectively and efficiently.
The primary cell types involved in adaptive immunity are T cells and B cells. Each type has a unique role in defending the body against pathogens. T cells are responsible for cell-mediated immunity. They identify and eliminate infected cells directly,...
The primary cell types involved in adaptive immunity are T cells and B cells. Each type has a unique role in defending the body against pathogens. T cells are responsible for cell-mediated immunity. They identify and eliminate infected cells directly,...
3.3K
01:26Esophageal Strictures-II: Clinical Features and Management
631
Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
631