BRD4-NUT carcinoma of the mediastinum in a pediatric patient: multidetector computed tomography imaging findings

J Thorac Imaging. 2010 Aug;25(3):W93-6. doi: 10.1097/RTI.0b013e3181b5d84d.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma / diagnosis*
  • Carcinoma / diagnostic imaging
  • Child
  • Humans
  • Male
  • Mediastinal Neoplasms / diagnosis*
  • Mediastinal Neoplasms / diagnostic imaging
  • Mediastinal Neoplasms / metabolism
  • Nuclear Proteins / metabolism*
  • Oncogene Proteins, Fusion / metabolism*
  • Tomography, X-Ray Computed

Substances

  • BRD4-NUT fusion oncogene protein, human
  • Nuclear Proteins
  • Oncogene Proteins, Fusion