NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case Series
Nuclear Protein in Testis (NUT) carcinomas are rare, extremely aggressive, poorly differentiated squamous carcinoma, characterised by the presence of NUT gene (NUTM1) rearrangement. NUT carcinoma most commonly arises in head and neck region and thorax however, they can occur in other parts of the bo...
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JCDR Research and Publications Private Limited
2023-02-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/17446/60593_CE[Ra1]_F(SS)_PF1(KB_SS)redo_PFA(NC)_PN(SS).pdf |
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| author | KR Anila Anitha Mathews Nair P Sindhu Kumar Rejnish T Priyakumari |
| author_facet | KR Anila Anitha Mathews Nair P Sindhu Kumar Rejnish T Priyakumari |
| author_sort | KR Anila |
| collection | DOAJ |
| description | Nuclear Protein in Testis (NUT) carcinomas are rare, extremely aggressive, poorly differentiated squamous carcinoma, characterised by the presence of NUT gene (NUTM1) rearrangement. NUT carcinoma most commonly arises in head and neck region and thorax however, they can occur in other parts of the body also. Here, we are presenting a case series of three cases of NUT carcinoma.All patients were females with disease involving head and neck region. The first case was an eight-year-old girl. The second case was a 36-year-old woman. The third case was a 61-year-old woman. Histopathology of all cases showed poorly differentiated neoplasm, comprising of sheets of monotonous cells with minimal indistinct, clear cytoplasm, round to oval nuclei with prominent nucleoli. High mitotic rate with areas of tumour necrosis were also present. Areas of abrupt keratinisation classically described in this entity were seen in two of the cases. Speckled nuclear positivity for NUT1 monoclonal antibody by immunohistochemistry, which is sensitive and specific for diagnosis was observed in all three cases. There is no definite treatment for this disease, and most patients respond poorly to conventional chemotherapy and radiation. Targeted therapy targeting the BRD4 portion of BRD4-NUT, termed BET bromodomain inhibitors, are in clinical trials. Two of our patients succumbed to disease within one year of diagnosis. Third patient is on follow-up for eleven months after diagnosis. |
| first_indexed | 2024-04-10T00:37:16Z |
| format | Article |
| id | doaj.art-415e21048589494190ab4864e9bfed56 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-04-10T00:37:16Z |
| publishDate | 2023-02-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-415e21048589494190ab4864e9bfed562023-03-14T09:18:48ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2023-02-01172ER01ER0310.7860/JCDR/2023/60593.17446NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case SeriesKR Anila0Anitha Mathews1Nair P Sindhu2Kumar Rejnish3T Priyakumari4Associate Professor, Department of Pathology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India.Additional Professor, Department of Pathology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India.Associate Professor, Department of Pathology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India.Additional Professor, Department of Radiation Oncology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India.Professor, Department of Paediatric Oncology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India.Nuclear Protein in Testis (NUT) carcinomas are rare, extremely aggressive, poorly differentiated squamous carcinoma, characterised by the presence of NUT gene (NUTM1) rearrangement. NUT carcinoma most commonly arises in head and neck region and thorax however, they can occur in other parts of the body also. Here, we are presenting a case series of three cases of NUT carcinoma.All patients were females with disease involving head and neck region. The first case was an eight-year-old girl. The second case was a 36-year-old woman. The third case was a 61-year-old woman. Histopathology of all cases showed poorly differentiated neoplasm, comprising of sheets of monotonous cells with minimal indistinct, clear cytoplasm, round to oval nuclei with prominent nucleoli. High mitotic rate with areas of tumour necrosis were also present. Areas of abrupt keratinisation classically described in this entity were seen in two of the cases. Speckled nuclear positivity for NUT1 monoclonal antibody by immunohistochemistry, which is sensitive and specific for diagnosis was observed in all three cases. There is no definite treatment for this disease, and most patients respond poorly to conventional chemotherapy and radiation. Targeted therapy targeting the BRD4 portion of BRD4-NUT, termed BET bromodomain inhibitors, are in clinical trials. Two of our patients succumbed to disease within one year of diagnosis. Third patient is on follow-up for eleven months after diagnosis.https://jcdr.net/articles/PDF/17446/60593_CE[Ra1]_F(SS)_PF1(KB_SS)redo_PFA(NC)_PN(SS).pdfabrupt keratinisationcarcinomamidlinesinonasal |
| spellingShingle | KR Anila Anitha Mathews Nair P Sindhu Kumar Rejnish T Priyakumari NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case Series Journal of Clinical and Diagnostic Research abrupt keratinisation carcinoma midline sinonasal |
| title | NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case Series |
| title_full | NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case Series |
| title_fullStr | NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case Series |
| title_full_unstemmed | NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case Series |
| title_short | NUT Carcinoma: A Diagnostically Challenging Rare Entity with an Aggressive Course: A Case Series |
| title_sort | nut carcinoma a diagnostically challenging rare entity with an aggressive course a case series |
| topic | abrupt keratinisation carcinoma midline sinonasal |
| url | https://jcdr.net/articles/PDF/17446/60593_CE[Ra1]_F(SS)_PF1(KB_SS)redo_PFA(NC)_PN(SS).pdf |
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