CTICasesNUT Carcinoma (Midline NUT Carcinoma)
Imaging findings
CT demonstrates extensive mediastinal soft tissue mass with right paratracheal and right supraclavicular involvement producing SVC obstruction. There are bulky right hilar and intrapulmonary nodal masses with extensive FDG avidity on PET. The mass resembles thymic carcinoma in location and appearance but genetic analysis using a foundation medicine-type panel reveals the characteristic BRD4-NUT or related chromosomal 15/19 fusion anomaly, confirming NUT carcinoma. The patient is a 52-year-old, older than the typical pediatric demographic.
Key takeaways
NUT carcinoma (nuclear protein in testis carcinoma) is a rare but increasingly recognized mediastinal malignancy defined by a chromosomal translocation typically involving the NUT gene on chromosome 15q14. Genetic sequencing using broad molecular panels is essential for diagnosis, as the histologic appearance may suggest thymic carcinoma and routine immunohistochemistry alone may be insufficient. The right hilar-mediastinal-supraclavicular distribution is a consistent imaging pattern. Prognosis is poor and cases can cluster in time at busy thoracic referral centers.
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