NUT Midline Carcinoma; Nuclear Protein Testis Carcinoma

NUT Carcinoma, formerly known as NUT Midline Carcinoma, is a rare type of cancer that forms in the respiratory tract and other places along the middle of the body, from the head to the abdomen. This includes the thymus, the area between the lungs, and the pancreas, liver, and bladder.

NUT Carcinoma occurs when a piece of chromosome 15 containing the NUT gene breaks off and attaches to another chromosome. It is usually aggressive (fast-growing) and cannot be cured. NUT Carcinoma is caused by a fusion of the BRD4, BRD3, NSD3, or other genes. This gene fusion causes the abnormal uncontrolled squamous cell growth.

Diagnostic testing: The diagnosis of NUT Carcinoma is made by:

• •

  Immunohistochemistry testing;

• •

  Fluorescence in situ hybridization (FISH);

• •

  Imaging scans such as CT, MRI, and PET;

• •

  Biopsy; and

• •

  Genetic sequencing.

Physical findings: The physical findings of NUT Carcinoma depend on where the cancer is growing in the body. Some general symptoms are:

• •

  Pain;

• •

  Unintentional weight loss;

• •

  Fatigue;

• •

  Cough; and

• •

  Shortness of breath.

ICD-9: 186.9

ICD-10: C80.9

NUT Carcinoma is a rare and aggressive tumor that has primarily been reported in children and young adults. NUT Carcinoma arises from many organs, mainly midline organs such as the head, neck, and thorax, and usually has widespread metastases at the time of diagnosis. Most patients have advanced stages of the disease and progress rapidly to death. The average length of survival is approximately 10 months. The 2-year survival rate is 30%.

NUT Carcinoma is very resistant to standard chemotherapy treatments. The tumor may initially respond to therapy, and then rapid recurrence is experienced. A multimodal approach to treatment is utilized since most patients present with advanced disease. If the cancer is localized and not yet metastasized, surgical resection may be curative. Radiation and chemotherapy have limited effectiveness.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Imaging reports such as CT scan or MRI scan;

• •

  Operative reports; and

• •

  Pathology/biopsy reports.

Suggested Listings for Evaluation:

REMARKS