Difference between revisions of "NUT carcinoma"
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'''NUT | {{ 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: | |||
*Usually midline - as the name of the tumour suggests. | |||
**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 }} | |||
</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== | ||
Features:<ref name=pmid20951314>{{Cite journal | last1 = French | first1 = CA. | title = NUT midline carcinoma. | journal = Cancer Genet Cytogenet | volume = 203 | issue = 1 | pages = 16-20 | month = Nov | year = 2010 | doi = 10.1016/j.cancergencyto.2010.06.007 | PMID = 20951314 }} | Features:<ref name=pmid20951314>{{Cite journal | last1 = French | first1 = CA. | title = NUT midline carcinoma. | journal = Cancer Genet Cytogenet | volume = 203 | issue = 1 | pages = 16-20 | month = Nov | year = 2010 | doi = 10.1016/j.cancergencyto.2010.06.007 | PMID = 20951314 }}</ref><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> | |||
*Poorly differentiated carcinoma. | *Poorly differentiated carcinoma. | ||
**Cohesive malignant cells. | |||
*Islands of well-differentiated squamous epithelium - '''key feature'''. | |||
DDx: | |||
*[[Squamous cell carcinoma]]. | |||
*[[Carcinoma ex pleomorphic adenoma]]. | |||
*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: '' | **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== | |||
*[[Head and neck pathology]]. | |||
*[[Mediastinum]]. | |||
==References== | ==References== | ||
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[[Category:Weird stuff]] | [[Category:Weird stuff]] | ||
[[Category:Diagnosis]] | |||
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
- Poorly differentiated carcinoma.
- Cohesive malignant cells.
- Islands of well-differentiated squamous epithelium - key feature.
DDx:
- Squamous cell carcinoma.
- Carcinoma ex pleomorphic adenoma.
- Poorly differentiated carcinoma.
- SMARCB1-deficient sinonasal carcinoma.[6]
- Acute leukemia - especially as NUT carcinoma may be CD34 positive.[7]
Images
NUT midline carcinoma - high mag. (WC)
NUT midline carcinoma - very high mag. (WC)
Molecular
- Rearrangement of the NUT gene.[2]
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:
- p63 +ve with p40 -ve may be suggestive.[citation needed]
See also
References
- ↑ 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.
- ↑ 2.0 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608963
- ↑ 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.
- ↑ 5.0 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.
- ↑ 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.
- ↑ 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608749
- ↑ 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.
- ↑ 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.
- ↑ 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/.
- ↑ 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.
- ↑ 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.