NUT carcinoma: a rare and devastating neoplasm
The present case has been reported in BMJ Case Reports.

A 45-year-old woman with no significant medical history had 1 month of productive cough empirically treated with azithromycin and dyspnoea on exertion. She was never a smoker and denied any constitutional symptoms, including unexpected weight loss. A CT of the chest was performed after she developed haemoptysis, which demonstrated a 6.3×4.6 cm right hilar mass with hilar, subcarinal and cardiophrenic adenopathy.

She underwent bronchoscopy which revealed complete occlusion of the right middle lobe by a tumour extending into the bronchus intermedius. Debridement of this mass was performed, with re-establishment of airway patency to the right lower lobe. Pathology from the debrided tumour as well as the subcarinal lymph node was consistent with poorly differentiated non-small cell lung carcinoma with Thyroid Transcription Factor 1 (TTF-1) and Programmed Death-Ligand 1 (PD-L1) negativity.

Due to high clinical suspicion, the tissue samples were transferred to another facility for additional assessment. MRI of the head was performed and found to be negative for metastatic disease.

This was followed by a positron emission tomography-CT performed 3 weeks after the original CT, which demonstrated intense Fludeoxyglucose (FDG) activity and significantly enlarged mass now measuring 11×10 cm with bilateral pleural effusions, pericardial effusion, and mass effect on the superior vena cava, right atrium, left atrium and right pulmonary veins.

Shortly after imaging, the patient’s clinical status rapidly deteriorated and she expired after transition to hospice care. Her pathology would ultimately return indicative of NUT (nuclear protein in testis) carcinoma with a nuclear speckled pattern of staining, expression of BRG1 (SMARCA4) and BAF-47 INI1 (SMARCB1) retained in tumour cells.

Learning points
• NUT (nuclear protein in testis) carcinoma is a rare neoplasm that should be clinically suspected with aggressive midline masses.

• Specialised pathology may be required to obtain accurate diagnosis.

• Chemotherapy and radiation are the mainstay of treatment as surgical resection is limited.


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