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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: | 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 }} | ||
* | </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)( | **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> | |||
*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> | |||
==See also== | ==See also== | ||