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NUT midline carcinoma

Erina Tonouchi, Yasuyuki Gen, Tomoki Muramatsu, Hidekazu Hiramoto, Kousuke Tanimoto, Jun Inoue, Johji Inazawa
Bromodomain Containing 4 (BRD4) mediates transcriptional elongation of the oncogene MYC by binding to acetylated histones. BRD4 has been shown to play a critical role in tumorigenesis in several cancers, and the BRD4-NUT fusion gene is a driver of NUT midline carcinoma (NMC), a rare but highly lethal cancer. microRNAs (miRNAs) are endogenous small non-coding RNAs that suppress target gene expression by binding to complementary mRNA sequences. Here, we show that miR-3140, which was identified as a novel tumor suppressive miRNA by function-based screening of a library containing 1090 miRNA mimics, directly suppressed BRD4 by binding to its coding sequence (CDS)...
March 14, 2018: Scientific Reports
A Agaimy, F Haller, A Hartmann
The last two decades have seen significant advances in the pathology of sinonasal tract neoplasms. This was the consequence of the availability of several innovative diagnostic tools, which resulted in a dynamic evolution of entities and splitting of newly defined or conceptualized entities and subtypes that have been included in the spectrum of old heterogeneous diseases. Most of these new tumor subtypes have distinctive demographic, clinicopathologic, and biological characteristics with prognostic and therapeutic implications for individual patients...
February 2, 2018: Der Pathologe
Prashanth Giridhar, Supriya Mallick, Lakhan Kashyap, Goura Kishor Rath
INTRODUCTION: NUT midline carcinoma is a rare tumour occurring in young adults which is frequently misdiagnosed as poorly differentiated squamous cell carcinoma or germ cell tumour. Though considered highly aggressive, there is limited information about the clinical behaviour of such patients. We intended to perform this review of published literature to assess the demographic profile, pattern of care and assess survival outcomes. METHODS: Two authors independently searched PubMed and Google search for eligible studies from 1950 till July 1 2017 published in English language using MESH terms NUT midline carcinoma; NUT midline carcinoma and radiotherapy and translocation 15:19 tumour...
January 22, 2018: European Archives of Oto-rhino-laryngology
Brendan C Dickson, Yun-Shao Sung, Marc K Rosenblum, Victor E Reuter, Mohammed Harb, Jay S Wunder, David Swanson, Cristina R Antonescu
NUT midline carcinoma is an aggressive tumor that occurs mainly in the head and neck and, less frequently, the mediastinum and lung. Following identification of an index case of a NUTM1 fusion positive undifferentiated soft tissue tumor, we interrogated additional cases of primary undifferentiated soft tissue and visceral tumors for NUTM1 abnormalities. Targeted next-generation sequencing was performed on RNA extracted from formalin-fixed paraffin-embedded tissue, and results validated by fluorescence in situ hybridization using custom bacterial artificial chromosome probes...
January 19, 2018: American Journal of Surgical Pathology
Anja Stirnweiss, Joyce Oommen, Rishi S Kotecha, Ursula R Kees, Alex H Beesley
NUT midline carcinoma (NMC) is a rare and aggressive cancer, with survival typically less than seven months, that can arise in people of any age. Genetically, NMC is defined by the chromosomal fusion of NUTM1 with a chromatin-binding partner, typically the bromodomain-containing protein BRD4. However, little is known about other genetic aberrations in this disease. In this study, we used a unique panel of cell lines to describe the molecular-genetic features of NMC. Next-generation sequencing identified a recurring high-impact mutation in the DNA-helicase gene RECQL5 in 75% of lines studied, and biological signals from mutation-signature and network analyses consistent with a general failure in DNA-repair...
December 22, 2017: Oncotarget
J Laco, H Kovarikova, M Chmelarova, H Vosmikova, K Sieglova, I Bubancova, P Dundr, K Nemejcova, J Michalek, P Celakovsky, R Mottl, I Sirak, M Vosmik, I Marek, T Geryk, J Mejzlik, J Satankova, A Ryska
The aim of this study was a detailed clinicopathological investigation of sinonasal NUT midline carcinoma (NMC), including analysis of DNA methylation and microRNA (miRNA) expression. Three (5%) cases of NMC were detected among 56 sinonasal carcinomas using immunohistochemical screening and confirmed by fluorescence in situ hybridization. The series comprised 2 males and 1 female, aged 46, 60, and 65 years. Two tumors arose in the nasal cavity and one in the maxillary sinus. The neoplasms were staged pT1, pT3, and pT4a (all cN0M0)...
2018: Neoplasma
Jiashun Cao, Donghong Chen, Fan Yang, Jingjing Yao, Weipeng Zhu, Chuanduo Zhao
NUT (nuclear protein in testis) midline carcinoma is a rare malignant tumor arising in midline structures, such as head, neck and mediastinum. In the 2015 WHO classification of lung tumours, it was categorized in "Epithelial tumors". However, because of limited clinical data, its biological features have not been fully recognized. We report a case of NUT midline carcinoma presented as a primary lung tumor. Pneumonectomy was performed without any neoadjuvant therapy and it turned out to be a gross total resection...
December 2017: Journal of Thoracic Disease
Lauren N Ko, Qing Y Weng, Johanna S Song, Mackenzie Asel, Scott R Granter, Arash Mostaghimi
NUT (nuclear protein of the testis) midline carcinoma (NMC) is a rare, poorly differentiated neoplasm with dismal prognosis. Though NMC are often metastatic by the time of presentation, cutaneous metastases have not been well described in the literature. We report a case of NMC in a patient who presented with grouped well-demarcated tender non-ulcerated erythematous nodules on the right mid-back. The lesions were initially diagnosed and treated as herpes zoster. Following failure to improve with antiviral therapy, imaging and skin biopsy revealed that the lesions were in fact cutaneous NUT carcinoma...
September 2017: Case Reports in Oncology
Esra Karakuş, Aylar Poyraz, Ayşe Selcen Oğuz Erdogan, Suna Emir, Derya Özyörük
BACKGROUND: Nuclear protein of the testis (NUT) midline carcinoma is genetically defined by rearrangement of NUT or by immunohistochemical expression of NUT. FINDINGS: A 6-year old child had a NUT midline carcinoma of the lung. Despite aggressive therapy, the child died. CONCLUSION: NUT carcinoma, which can be diagnosed immunohistochemically, remains an aggressive tumor.
December 2017: Fetal and Pediatric Pathology
Simone Storck, Alyssa L Kennedy, Karen J Marcus, Lisa Teot, Jennifer Vaughn, Astrid K Gnekow, Bruno Märkl, Ivo Leuschner, Steven G DuBois, Christopher A French, Michael C Frühwald
A subset of poorly differentiated squamous cell carcinomas, NUT midline carcinomas (NMC) are characterized by a translocation t(15;19)(q13;p13) [ 1 ]. The prognosis is generally dismal [ 2 ] and therapeutic success has been limited to exceptional cases [ 3 ]. We present two cases of pediatric NMC from two different institutions treated according to a multimodal sarcoma approach involving surgery, chemotherapy, and focal radiotherapy. One patient has remained in complete continuous remission for over 6 years, while the other is in CR in early follow-up off therapy...
May 2017: Pediatric Hematology and Oncology
Stefano Cavalieri, Anastasios Stathis, Alessandra Fabbri, Angelica Sonzogni, Federica Perrone, Elena Tamborini, Giuseppe Pelosi, Filippo de Braud, Marco Platania
INTRODUCTION: NUT midline carcinoma (NMC) is a rare and aggressive epithelial cancer arising from median organs. It is driven by chromosomal translocation t(15;19) involving the rearrangement of NUT (nuclear protein in testis) and BRD4 (bromodomain 4) genes leading to fusion oncoprotein BRD4-NUT. CASE PRESENTATION: We report the case of a woman who was previously treated with induction chemotherapy, surgery, radiotherapy and adjuvant trastuzumab for HER-2 positive invasive ductal carcinoma of the breast...
November 15, 2017: Tumori
Aanchal Kakkar, Vijay Mariadas Antony, David Victor Kumar Irugu, Narayan Adhikari, Deepali Jain
NUT midline carcinomas (NMCs) are rare, poorly differentiated tumors with aggressive biological behavior and a characteristic molecular signature. Availability of NUT antibody has facilitated diagnosis of NMC without molecular testing. We report a series of head and neck NMCs diagnosed using NUT IHC at our institute, including one case with an unusual course. Immunohistochemistry for NUT was performed in nasal and sinonasal tumors with diagnoses of undifferentiated carcinoma, poorly differentiated squamous cell carcinoma and malignant neoplasm, not otherwise specified, to identify cases of NMC...
September 25, 2017: Head and Neck Pathology
Johannes Brägelmann, Marcel A Dammert, Felix Dietlein, Johannes M Heuckmann, Axel Choidas, Stefanie Böhm, André Richters, Debjit Basu, Verena Tischler, Carina Lorenz, Peter Habenberger, Zhizhou Fang, Sandra Ortiz-Cuaran, Frauke Leenders, Jan Eickhoff, Uwe Koch, Matthäus Getlik, Martin Termathe, Muhammad Sallouh, Zoltán Greff, Zoltán Varga, Hyatt Balke-Want, Christopher A French, Martin Peifer, H Christian Reinhardt, László Örfi, György Kéri, Sascha Ansén, Lukas C Heukamp, Reinhard Büttner, Daniel Rauh, Bert M Klebl, Roman K Thomas, Martin L Sos
Kinase inhibitors represent the backbone of targeted cancer therapy, yet only a limited number of oncogenic drivers are directly druggable. By interrogating the activity of 1,505 kinase inhibitors, we found that BRD4-NUT-rearranged NUT midline carcinoma (NMC) cells are specifically killed by CDK9 inhibition (CDK9i) and depend on CDK9 and Cyclin-T1 expression. We show that CDK9i leads to robust induction of apoptosis and of markers of DNA damage response in NMC cells. While both CDK9i and bromodomain inhibition over time result in reduced Myc protein expression, only bromodomain inhibition induces cell differentiation and a p21-induced cell-cycle arrest in these cells...
September 19, 2017: Cell Reports
Deepika Sirohi, Karuna Garg, Jeffry P Simko, James P Grenert
No abstract text is available yet for this article.
August 24, 2017: Histopathology
Luis Gorospe, Ana María Ayala-Carbonero, Frank Eric Farfán-Leal, Gemma María Muñoz-Molina, María Eugenia Olmedo-García, Ana Gómez-Rueda, Pilar Garrido-López
No abstract text is available yet for this article.
August 7, 2017: Surgery
Ekta Pathak, Bhavya, Divya Mishra, Neelam Atri, Rajeev Mishra
NUT midline carcinoma (NMC) is a very aggressive and lethal type of squamous epithelial cell cancer caused due to fusion of BRD4 and NUT genes. The gene fusion results into a new fusion protein that promotes oncogenesis. The detailed molecular mechanisms underlying the NMC are still not clear and new findings are urgently required to complement the current efforts. Abnormal microRNAs (miRNA) expression promotes tumour formation by modulating the functional expression of critical genes other than the parent genes involved in tumour cell proliferation or survival...
2017: Bioinformation
Crystal Perkins, Darko Pucar, Colleen H McDonough, Hadyn T Williams
Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare, aggressive, lethal, epithelioid, poorly differentiated cancer first described in Japan in 1991, unique in that is defined genetically rather than by histological tissue of origin. It usually arises in the body midline and presents as a mass with metastasis. An infant presenting with pneumonia was found to have a pericardial mass, NMC resected, and subsequent staging positron emission tomography (PET) showing residual mediastinal tumor and midline abdominal metastases...
July 2017: World Journal of Nuclear Medicine
Lauriane Lemelle, Gaëlle Pierron, Paul Fréneaux, Sophie Huybrechts, Alexandra Spiegel, Dominique Plantaz, Morbize Julieron, Sophie Dumoucel, Antoine Italiano, Fréderic Millot, Christophe Le Tourneau, Guy Leverger, Pascal Chastagner, Matthieu Carton, Daniel Orbach
BACKGROUND: Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor defined by the presence of NUT rearrangement with a poor prognosis. This rare cancer is underdiagnosed and poorly treated. OBJECTIVE: The primary objective of this study was to describe the clinical, radiologic, and biological features of NUT carcinoma. The secondary objective was to describe the various treatments and assess their efficacy. METHODS: This retrospective multicenter study was based on review of the medical records of children and adults with NUT carcinoma with specific rearrangement or positive anti-NUT nuclear staining (>50%)...
December 2017: Pediatric Blood & Cancer
Yin P Hung, John P Lee, Andrew M Bellizzi, Jason L Hornick
AIMS: Neuroblastoma shows considerable histological overlap with other small round blue cell tumours. PHOX2B, a transcription factor that is essential for autonomic nervous system development, has been reported as an immunohistochemical marker for neuroblastoma. The aim of this study was to validate the specificity and diagnostic utility of PHOX2B for peripheral neuroblastic tumours. METHODS AND RESULTS: We evaluated 240 cases (133 in whole-tissue sections; 107 in tissue microarrays), including 76 peripheral neuroblastic tumours (median age 2 years; including four adults) and 164 other tumours: 44 Wilms tumours; 20 Ewing sarcomas; 10 each of CIC-rearranged round cell sarcomas, poorly differentiated synovial sarcomas, lymphoblastic lymphomas, alveolar rhabdomyosarcomas, embryonal rhabdomyosarcomas, mesenchymal chondrosarcomas, Merkel cell carcinomas, olfactory neuroblastomas, and melanomas; and five each of NUT midline carcinomas and desmoplastic small round cell tumours...
June 22, 2017: Histopathology
Ranran Wang, Xing-Jun Cao, Katarzyna Kulej, Wei Liu, Tongcui Ma, Margo MacDonald, Cheng-Ming Chiang, Benjamin A Garcia, Jianxin You
The epigenetic reader BRD4 plays a vital role in transcriptional regulation, cellular growth control, and cell-cycle progression. Dysregulation of BRD4 function has been implicated in the pathogenesis of a wide range of cancers. However, how BRD4 is regulated to maintain its normal function in healthy cells and how alteration of this process leads to cancer remain poorly understood. In this study, we discovered that BRD4 is hyperphosphorylated in NUT midline carcinoma and identified CDK9 as a potential kinase mediating BRD4 hyperphosphorylation...
July 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
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