BRD4-NUT carcinoma of the mediastinum in a pediatric patient: multidetector computed tomography imaging findings.
Midline carcinoma with chromosomal rearrangement of the gene nuclear protein in testis (NUT) is termed NUT midline carcinoma (NMC), and is a rare and highly lethal neoplasm. The gene BRD4 is its most common translocation partner, forming a BRD4-NUT fusion oncogene. NMCs typically occur in the midline, most commonly in the head, neck, or mediastinum, as poorly differentiated carcinomas with variable degrees of squamous differentiation. This is a recently characterized tumor, and thus is still largely unfamiliar to radiologists. We report a 10-year-old boy with NMC involving the posterior mediastinum and invading the left pulmonary vein with an extension into the left atrium; these findings are presented with an emphasis on multidetector computed tomography imaging.
Nelson
Benjamin A
BA
Department of Pediatrics, Pulmonary Division, Massachusetts General Hospital, Boston, MA, USA.
Lee
Edward Y
EY
French
Christopher A
CA
Bauer
Daniel E
DE
Vargas
Sara O
SO
D002277:Carcinoma / Q000175:diagnosis* / Q000000981:diagnostic imaging; D002648:Child; D006801:Humans; D008297:Male; D008479:Mediastinal Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000378:metabolism; D009687:Nuclear Proteins / Q000378:metabolism*; D015514:Oncogene Proteins, Fusion / Q000378:metabolism*; D014057:Tomography, X-Ray Computed
C471990:BRD4-NUT fusion oncogene protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion