NUT carcinoma

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NUT midline carcinoma is a super rare tumour.

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.
  • Head, neck and mediastinum.[3]
  • Poor prognosis.

Microscopic

Features:[1][3]

  • 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)(q14;p13) BRD/NUT.[3][4]

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 3.2 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.
  4. Online 'Mendelian Inheritance in Man' (OMIM) 608749