NUT Midline Carcinoma



Earlier this week we heard from Dr. LeBlanc about a very unique case of NUT Midline Carcinoma. NUT carcinoma is an exceedingly rare, highly aggressive form of squamous cell carcinoma, attributed to chromosomal rearrangement in the NUT gene. While only several hundred cases have ever been recorded, it is thought more prevalent than diagnosed given that it may often be misdiagnosed or mischaracterized upon presentation.

In our case, the patient was a young woman without much medical history, who had been worked up by oral surgery at an outside institution for a cheek abscess bizarrely refractory to antibiotics for months. Upon presentation, biopsy was obtained and pathology was notable for sheets of “small, round, blue cells” which is suggestive of an aggressive, poorly differentiated malignancy. While surgical resection is primarily indicated in these cases, this patient’s tumor size was too large, and thus a plan for chemoradiation was selected and the team is investigating the possibility of clinical trial.

Sheet of “small round blue cells”

Sheet of “small round blue cells”

Classic Differential of Small Round Blue Cells

  • Neuroblastoma

  • Nephroblastoma

  • Rhabdomyosarcoma

  • Ewing’s sarcoma

  • Medulloblastoma

  • Retinoblastoma

  • Lymphoma

  • NUT Carcinoma

Thanks to Dr. Missy LeBlanc for this fascinating case!