Difference between revisions of "NUT carcinoma"

From Libre Pathology
Jump to navigation Jump to search
 
(32 intermediate revisions by 2 users not shown)
Line 1: Line 1:
'''NUT midline carcinoma''' is a super rare tumour.
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = NUT_midline_carcinoma_-_very_high_mag.jpg
| Width      =
| Caption    = NUT carcinoma. [[H&E stain]].
| Synonyms  = NUT midline carcinoma, carcinoma with t(15;19) translocation
| Micro      = cohesive malignant cells (poorly differentiated carcinoma), islands of well-differentiated squamous epithelium
| Subtypes  =
| LMDDx      = [[Carcinoma ex pleomorphic adenoma]], [[squamous cell carcinoma]], [[SMARCB1-deficient sinonasal carcinoma]], acute leukemia, poorly differentiated carcinoma,
| Stains    =
| IHC        = p63 +ve, CD34 +ve/-ve, EMA +ve, NUT +ve
| EM        =
| Molecular  = t(15;19)
| IF        =
| Gross      =
| Grossing  =
| Site      = [[head and neck pathology|head and neck]], [[mediastinum]], usu. midline
| Assdx      =
| Syndromes  =
| Clinicalhx =
| Signs      =
| Symptoms  =
| Prevalence = very rare
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = very poor
| Other      =
| ClinDDx    =
}}
'''NUT carcinoma''' is a rare malignant tumour classically of the [[head and neck pathology|head and neck]].  The [[World Health Organization|WHO]] calls this tumour '''carcinoma with t(15;19) translocation'''.<ref name=Ref_WMSP145>{{Ref WMSP|145}}</ref> It is also known as '''NUT midline carcinoma''', abbreviated '''NMC'''.


==General==
==General==
*Not specific to any tissue type or organ.<ref name=pmid20951314/>
*Not specific to any tissue type or organ.<ref name=pmid20951314/>
*Defined by mutation in ''NUT'' gene.
*Defined by mutation in ''NUT'' gene on chromosome 15.
**''NUT'' = ''Nuclear protein in testis''.<ref>{{OMIM|608963}}</ref>
**''NUT'' = ''Nuclear protein in testis''.<ref>{{OMIM|608963}}</ref>


Clinical:
Clinical:
*Usually midline - as the name of the tumour suggests.
*Usually midline - as the name of the tumour suggests.
*[[Head and neck pathology|Head, neck]] and mediastinum.<ref name=pmid18552174>{{Cite journal  | last1 = French | first1 = CA. | title = Demystified molecular pathology of NUT midline carcinomas. | journal = J Clin Pathol | volume = 63 | issue = 6 | pages = 492-6 | month = Jun | year = 2010 | doi = 10.1136/jcp.2007.052902 | PMID = 18552174 }}</ref>  
**Case report of a NMC in the parotid gland.<ref name=pmid19561446>{{Cite journal  | last1 = den Bakker | first1 = MA. | last2 = Beverloo | first2 = BH. | last3 = van den Heuvel-Eibrink | first3 = MM. | last4 = Meeuwis | first4 = CA. | last5 = Tan | first5 = LM. | last6 = Johnson | first6 = LA. | last7 = French | first7 = CA. | last8 = van Leenders | first8 = GJ. | title = NUT midline carcinoma of the parotid gland with mesenchymal differentiation. | journal = Am J Surg Pathol | volume = 33 | issue = 8 | pages = 1253-8 | month = Aug | year = 2009 | doi = 10.1097/PAS.0b013e3181abe120 | PMID = 19561446 }}
*Poor prognosis.
</ref>
*[[Head and neck pathology|Head, neck]] and [[mediastinum]].<ref name=pmid18552174>{{Cite journal  | last1 = French | first1 = CA. | title = Demystified molecular pathology of NUT midline carcinomas. | journal = J Clin Pathol | volume = 63 | issue = 6 | pages = 492-6 | month = Jun | year = 2010 | doi = 10.1136/jcp.2007.052902 | PMID = 18552174 }}</ref>  
*Very poor prognosis.<ref name=pmid19561446/>


==Microscopic==
==Microscopic==
Line 18: Line 50:


DDx:
DDx:
*[[Squamous cell carcinoma]].
*[[Carcinoma ex pleomorphic adenoma]].
*[[Carcinoma ex pleomorphic adenoma]].
*Poorly differentiated carcinoma.
*Poorly differentiated carcinoma.
*[[SMARCB1-deficient sinonasal carcinoma]].<ref name=pmid25007146>{{Cite journal  | last1 = Bishop | first1 = JA. | last2 = Antonescu | first2 = CR. | last3 = Westra | first3 = WH. | title = SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. | journal = Am J Surg Pathol | volume = 38 | issue = 9 | pages = 1282-9 | month = Sep | year = 2014 | doi = 10.1097/PAS.0000000000000285 | PMID = 25007146 }}</ref>
*Acute leukemia - especially as ''NUT carcinoma'' may be CD34 positive.<ref name=pmid>{{Cite journal  | last1 = Li | first1 = W. | last2 = Chastain | first2 = K. | title = NUT midline carcinoma with leukemic presentation mimicking CD34-positive acute leukemia. | journal = Blood | volume = 132 | issue = 4 | pages = 456 | month = Jul | year = 2018 | doi = 10.1182/blood-2017-07-796268 | PMID = 30049733 }}</ref>
===Images===
<gallery>
Image:NUT_midline_carcinoma_-_high_mag.jpg | NUT midline carcinoma - high mag. (WC)
Image:NUT_midline_carcinoma_-_very_high_mag.jpg | NUT midline carcinoma - very high mag. (WC)
</gallery>


==Molecular==
==Molecular==
*Rearrangement of the ''NUT'' gene.<ref name=pmid20951314/>
*Rearrangement of the ''NUT'' gene.<ref name=pmid20951314/>
**Most common: t(15;19)(q14;p13) ''BRD/NUT''.<ref name=pmid18552174>{{Cite journal  | last1 = French | first1 = CA. | title = Demystified molecular pathology of NUT midline carcinomas. | journal = J Clin Pathol | volume = 63 | issue = 6 | pages = 492-6 | month = Jun | year = 2010 | doi = 10.1136/jcp.2007.052902 | PMID = 18552174 }}</ref><ref>{{OMIM|608749}}</ref>
**Most common: t(15;19)(q13;p13.1) ''BRD4/NUT''.<ref>{{OMIM|608749}}</ref>
***One source suggests it is: ''t(15;19)(q14;p13.1)''.<ref name=pmid18552174>{{Cite journal  | last1 = French | first1 = CA. | title = Demystified molecular pathology of NUT midline carcinomas. | journal = J Clin Pathol | volume = 63 | issue = 6 | pages = 492-6 | month = Jun | year = 2010 | doi = 10.1136/jcp.2007.052902 | PMID = 18552174 }}</ref>
 
==IHC==
*NUT +ve ('''key immunostain''').
*CD34 +ve seen in ~50% of cases.<ref name=pmid21221870>{{Cite journal  | last1 = Stelow | first1 = EB. | title = A review of NUT midline carcinoma. | journal = Head Neck Pathol | volume = 5 | issue = 1 | pages = 31-5 | month = Mar | year = 2011 | doi = 10.1007/s12105-010-0235-x | PMID = 21221870 }}</ref>
*p63 +ve.<ref name=pmid22534723>{{Cite journal  | last1 = Bishop | first1 = JA. | last2 = Westra | first2 = WH. | title = NUT midline carcinomas of the sinonasal tract. | journal = Am J Surg Pathol | volume = 36 | issue = 8 | pages = 1216-21 | month = Aug | year = 2012 | doi = 10.1097/PAS.0b013e318254ce54 | PMID = 22534723 }}</ref>
**Rarely negative - case report.<ref name=pmid33176817>{{cite journal |authors=Numakura S, Saito K, Motoi N, Mori T, Saito Y, Yokote F, Kanamoto Y, Asami M, Sakai T, Yamauchi Y, Sakao Y, Uozaki H, Kawamura M |title=P63-negative pulmonary NUT carcinoma arising in the elderly: a case report |journal=Diagn Pathol |volume=15 |issue=1 |pages=134 |date=November 2020 |pmid=33176817 |pmc=7657348 |doi=10.1186/s13000-020-01053-4 |url=}}</ref>
*EMA +ve.
*p16 +ve (4 of 4 cases).<ref name=pmid24185123>{{Cite journal  | last1 = Salles | first1 = PG. | last2 = Moura | first2 = Rde D. | last3 = Menezes | first3 = LM. | last4 = Bacchi | first4 = CE. | title = Expression of P16 in NUT carcinomas with no association with human papillomavirus (HPV). | journal = Appl Immunohistochem Mol Morphol | volume = 22 | issue = 4 | pages = 262-5 | month = Apr | year = 2014 | doi = 10.1097/PAI.0b013e3182a4ef2e | PMID = 24185123 }}</ref>
*Ki-67 >80% of tumour cells.{{fact}}
*CK7 +ve.<ref name=pmid25549144>{{Cite journal  | last1 = Zhu | first1 = S. | last2 = Schuerch | first2 = C. | last3 = Hunt | first3 = J. | title = Review and updates of immunohistochemistry in selected salivary gland and head and neck tumors. | journal = Arch Pathol Lab Med | volume = 139 | issue = 1 | pages = 55-66 | month = Jan | year = 2015 | doi = 10.5858/arpa.2014-0167-RA | PMID = 25549144 }}</ref>


Note:
*p63 +ve with p40 -ve may be suggestive.{{fact}}
==See also==
==See also==
*[[Head and neck pathology]].
*[[Head and neck pathology]].

Latest revision as of 09:43, 10 September 2024

NUT carcinoma
Diagnosis in short

NUT carcinoma. H&E stain.
Synonyms NUT midline 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, squamous cell carcinoma, SMARCB1-deficient sinonasal carcinoma, acute leukemia, poorly differentiated carcinoma,
IHC p63 +ve, CD34 +ve/-ve, EMA +ve, NUT +ve
Molecular t(15;19)
Site head and neck, mediastinum, usu. midline
Prevalence very rare
Prognosis very poor

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

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.[8]
      • One source suggests it is: t(15;19)(q14;p13.1).[5]

IHC

  • NUT +ve (key immunostain).
  • CD34 +ve seen in ~50% of cases.[9]
  • p63 +ve.[10]
    • Rarely negative - case report.[11]
  • EMA +ve.
  • p16 +ve (4 of 4 cases).[12]
  • Ki-67 >80% of tumour cells.[citation needed]
  • CK7 +ve.[13]

Note:

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. ↑ Li, W.; Chastain, K. (Jul 2018). "NUT midline carcinoma with leukemic presentation mimicking CD34-positive acute leukemia.". Blood 132 (4): 456. doi:10.1182/blood-2017-07-796268. PMID 30049733.
  8. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608749
  9. ↑ Stelow, EB. (Mar 2011). "A review of NUT midline carcinoma.". Head Neck Pathol 5 (1): 31-5. doi:10.1007/s12105-010-0235-x. PMID 21221870.
  10. ↑ Bishop, JA.; Westra, WH. (Aug 2012). "NUT midline carcinomas of the sinonasal tract.". Am J Surg Pathol 36 (8): 1216-21. doi:10.1097/PAS.0b013e318254ce54. PMID 22534723.
  11. ↑ Numakura S, Saito K, Motoi N, Mori T, Saito Y, Yokote F, Kanamoto Y, Asami M, Sakai T, Yamauchi Y, Sakao Y, Uozaki H, Kawamura M (November 2020). "P63-negative pulmonary NUT carcinoma arising in the elderly: a case report". Diagn Pathol 15 (1): 134. doi:10.1186/s13000-020-01053-4. PMC 7657348. PMID 33176817. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7657348/.
  12. ↑ Salles, PG.; Moura, Rde D.; Menezes, LM.; Bacchi, CE. (Apr 2014). "Expression of P16 in NUT carcinomas with no association with human papillomavirus (HPV).". Appl Immunohistochem Mol Morphol 22 (4): 262-5. doi:10.1097/PAI.0b013e3182a4ef2e. PMID 24185123.
  13. ↑ Zhu, S.; Schuerch, C.; Hunt, J. (Jan 2015). "Review and updates of immunohistochemistry in selected salivary gland and head and neck tumors.". Arch Pathol Lab Med 139 (1): 55-66. doi:10.5858/arpa.2014-0167-RA. PMID 25549144.
Retrieved from "https://librepathology.org/w/index.php?title=NUT_carcinoma&oldid=53191"