NUT carcinoma

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NUT carcinoma
Diagnosis in short

NUT midline carcinoma. H&E stain.
Synonyms NUT carcinoma, carcinoma with t(15;19) translocation
LM cohesive malignant cells (poorly differentiated carcinoma), islands of well-differentiated squamous epithelium
LM DDx Carcinoma ex pleomorphic adenoma, poorly differentiated carcinoma
Molecular t(15;19)
Site head and neck, mediastinum, usu. midline
Prevalence very rare
Prognosis very poor

NUT midline carcinoma, abbreviated NMC, is a super rare tumour of the head and neck. The WHO calls this tumour carcinoma with t(15;19) translocation.[1] It is also known as NUT carcinoma.

General

  • Not specific to any tissue type or organ.[2]
  • Defined by mutation in NUT gene on chromosome 15.
    • NUT = Nuclear protein in testis.[3]

Clinical:

  • Usually midline - as the name of the tumour suggests.
    • Case report of a NMC in the parotid gland.[4]
  • Head, neck and mediastinum.[5]
  • Very poor prognosis.[4]

Microscopic

Features:[2][5]

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

DDx:

Images

  • NUT midline carcinoma - high mag. (WC)

  • NUT midline carcinoma - very high mag. (WC)

Molecular

  • Rearrangement of the NUT gene.[2]
    • Most common: t(15;19)(q13;p13.1) BRD4/NUT.[7]
      • One source suggests it is: t(15;19)(q14;p13.1).[5]

See also

References

  1. ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 145. ISBN 978-0781765275.
  2. ↑ 2.0 2.1 2.2 French, CA. (Nov 2010). "NUT midline carcinoma.". Cancer Genet Cytogenet 203 (1): 16-20. doi:10.1016/j.cancergencyto.2010.06.007. PMID 20951314.
  3. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608963
  4. ↑ 4.0 4.1 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.
  5. ↑ 5.0 5.1 5.2 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.
  6. ↑ Bishop, JA.; Antonescu, CR.; Westra, WH. (Sep 2014). "SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract.". Am J Surg Pathol 38 (9): 1282-9. doi:10.1097/PAS.0000000000000285. PMID 25007146.
  7. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608749
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