NUT carcinoma

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NUT midline carcinoma, abbreviated NMC, is a super rare tumour of the head and neck.

General

  • Not specific to any tissue type or organ.[1]
  • Defined by mutation in NUT gene.
    • NUT = Nuclear protein in testis.[2]

Clinical:

  • Usually midline - as the name of the tumour suggests.
    • Case report of a NMC in the parotid gland.[3]
  • Head, neck and mediastinum.[4]
  • Very poor prognosis.[3]

Microscopic

Features:[1][4]

  • Poorly differentiated carcinoma.
    • Cohesive malignant cells.
  • Islands of well-differentiated squamous epithelium - key feature.

DDx:

Molecular

  • Rearrangement of the NUT gene.[1]
    • Most common: t(15;19)(q13;p13.1) BRD4/NUT.[5]
      • One source suggests it is: t(15;19)(q14;p13.1).[4]

See also

References

  1. 1.0 1.1 1.2 French, CA. (Nov 2010). "NUT midline carcinoma.". Cancer Genet Cytogenet 203 (1): 16-20. doi:10.1016/j.cancergencyto.2010.06.007. PMID 20951314.
  2. Online 'Mendelian Inheritance in Man' (OMIM) 608963
  3. 3.0 3.1 den Bakker, MA.; Beverloo, BH.; van den Heuvel-Eibrink, MM.; Meeuwis, CA.; Tan, LM.; Johnson, LA.; French, CA.; van Leenders, GJ. (Aug 2009). "NUT midline carcinoma of the parotid gland with mesenchymal differentiation.". Am J Surg Pathol 33 (8): 1253-8. doi:10.1097/PAS.0b013e3181abe120. PMID 19561446.
  4. 4.0 4.1 4.2 French, CA. (Jun 2010). "Demystified molecular pathology of NUT midline carcinomas.". J Clin Pathol 63 (6): 492-6. doi:10.1136/jcp.2007.052902. PMID 18552174.
  5. Online 'Mendelian Inheritance in Man' (OMIM) 608749