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NUT midline carcinoma

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https://www.readbyqxmd.com/read/27855672/nut-midline-carcinoma-mimicking-a-germ-cell-tumor-a-case-report
#1
Yohei Harada, Takafumi Koyama, Kengo Takeuchi, Kazufusa Shoji, Kazuei Hoshi, Yu Oyama
BACKGROUND: NUT midline carcinoma (NMC) is a rare and highly aggressive malignancy. Although more information on NMC has been recently accumulating in the literature, most oncologists and pathologists remain unfamiliar with the clinical and pathologic features of this disease. The clinical features of NMC sometimes mimic those of other malignancies, and NMC can therefore be overlooked if the diagnosis is not suspected. We present the case of a young male with NMC arising in the mediastinum with elevated serum alpha-fetoprotein levels suggestive of an extragonadal nonseminomatous germ-cell tumor...
November 17, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27757815/nut-midline-carcinoma-of-the-nasal-cavity
#2
Mia Edgar, Andria M Caruso, Esther Kim, Robert D Foss
Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare, aggressive, poorly differentiated form of squamous cell carcinoma caused by a chromosomal rearrangement of the NUT gene on chromosome 15. These tumors have a predilection for midline and paramidline structures of the upper aerodigestive tract and mediastinum and can affect patients across a broad age range, including children. In the current example, a 53 year old male presented with a mass originating in the left nasal cavity. The clinical, radiographic, and morphologic features of NMC are discussed...
October 18, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27698495/the-oncoprotein-brd4-nut-generates-aberrant-histone-modification-patterns
#3
Barry M Zee, Amy B Dibona, Artyom A Alekseyenko, Christopher A French, Mitzi I Kuroda
Defects in chromatin proteins frequently manifest in diseases. A striking case of a chromatin-centric disease is NUT-midline carcinoma (NMC), which is characterized by expression of NUT as a fusion partner most frequently with BRD4. ChIP-sequencing studies from NMC patients revealed that BRD4-NUT (B4N) covers large genomic regions and elevates transcription within these domains. To investigate how B4N modulates chromatin, we performed affinity purification of B4N when ectopically expressed in 293-TREx cells and quantified the associated histone posttranslational modifications (PTM) using proteomics...
2016: PloS One
https://www.readbyqxmd.com/read/27644951/ini1-smarcb1-deficient-sinonasal-carcinoma-a-clinicopathologic-report-of-2-cases
#4
Jason K Wasserman, Brendan C Dickson, Bayardo Perez-Ordonez, John R de Almeida, Jonathan C Irish, Ilan Weinreb
Poorly differentiated sinonasal malignancies are amongst the hardest differential diagnoses in pathology, owing to the large number of rare entities that arise there. Complicating the matter is that most pathologists, including those with experience in head and neck pathology, have little experience in any one of these rare entities. Most patients with sinonasal carcinoma present with locally advanced disease and in the past a combination of chemotherapy, radiotherapy, and surgery would usually be recommended without the specific disease subtype playing a large part of the decision making...
September 19, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27526015/poorly-differentiated-sinonasal-tract-malignancies-a-review-focusing-on-recently-described-entities
#5
Abbas Agaimy
Sinonasal tract malignancies are uncommon, representing no more than 5% of all head and neck neoplasms. However, in contrast to other head and neck sites, a significant proportion of sinonasal neoplasms tend to display a poorly/ undifferentiated significantly overlapping morphology and a highly aggressive clinical course, despite being of diverse histogenetic and molecular pathogenesis. The wide spectrum of poorly differentiated sinonasal epithelial neoplasms with small "basaloid" blue cell morphology includes basaloid squamous cell carcinoma (both HPV+ and HPV-unrelated), nasopharyngeal-type lymphoepithelial carcinoma (EBV+), small/large cell neuroendocrine carcinoma, esthesioneuroblastoma, poorly differentiated carcinoma of salivary type (myoepithelial carcinoma and solid adenoid cystic carcinoma), NUT midline carcinoma, the recently described SMARCB1-deficient sinonasal carcinoma, sinonasal teratocarcinosarcoma and, as a diagnosis of exclusion, sinonasal undifferentiated carcinoma (SNUC)...
2016: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/27509377/intensive-treatment-and-survival-outcomes-in-nut-midline-carcinoma-of-the-head-and-neck
#6
Nicole G Chau, Shelley Hurwitz, Chelsey M Mitchell, Alexandra Aserlind, Noam Grunfeld, Leah Kaplan, Peter Hsi, Daniel E Bauer, Christopher S Lathan, Carlos Rodriguez-Galindo, Roy B Tishler, Robert I Haddad, Stephen E Sallan, James E Bradner, Christopher A French
BACKGROUND: NUT midline carcinoma is a rare and aggressive genetically characterized subtype of squamous cell carcinoma frequently arising from the head and neck. The characteristics and optimal management of head and neck NUT midline carcinoma (HNNMC) are unclear. METHODS: A retrospective review of all known cases of HNNMC in the International NUT Midline Carcinoma Registry as of December 31, 2014, was performed. Forty-eight consecutive patients were treated from 1993 to 2014, and clinicopathologic variables and outcomes for 40 patients were available for analyses; they composed the largest HNNMC cohort studied to date...
August 10, 2016: Cancer
https://www.readbyqxmd.com/read/27451123/small-molecule-targeting-of-bet-proteins-in-cancer
#7
C A French
BET proteins have recently become recognized for their role in a broad range of cancers and are defined by the presence of two acetyl-histone reading bromodomains and an ET domain. This family of proteins includes BRD2, BRD3, BRD4, and BRDT. BRD4 is the most-studied BET protein in cancer, and normally serves as an epigenetic reader that links active chromatin marks to transcriptional elongation through activation of RNA polymerase II. The role of BRD3 and BRD4 first became known in cancer as mutant oncoproteins fused to the p300-recruiting NUT protein in a rare aggressive subtype of squamous cell cancer known as NUT midline carcinoma (NMC)...
2016: Advances in Cancer Research
https://www.readbyqxmd.com/read/27441078/nuclear-protein-of-the-testis-midline-carcinoma-masquerading-as-a-primary-mediastinal-seminoma
#8
Maria S Sayapina, Nikita A Savelov, Apollon I Karseladze, Anatoly A Bulanov, Alexey A Tryakin, Dmitry A Nosov, Avgust M Garin, Sergey A Tjulandin
Nuclear protein of the testis (NUT) midline carcinomas are rare aggressive carcinomas characterized by chromosomal rearrangements that involve the gene encoding the NUT. This article reviews the clinicopathologic features and the differential diagnosis of these malignancies.
June 28, 2016: Rare Tumors
https://www.readbyqxmd.com/read/27400194/cytopathologic-features-of-nut-midline-carcinoma-a-series-of-26-specimens-from-13-patients
#9
Justin A Bishop, Christopher A French, Syed Z Ali
BACKGROUND: NUT midline carcinoma (NMC) is an increasingly recognized neoplasm defined by rearrangements of the nuclear protein in testis (NUT) gene (also known as NUTM1). NMC is important to diagnose for prognostic and diagnostic reasons, but to date, only a small case series and rare case reports of the cytopathologic features of NMC have been published. METHODS: All NMC specimens (confirmed by molecular testing and/or NUT immunoreactivity) with cytopathologic material available were identified at 2 academic centers...
July 11, 2016: Cancer Cytopathology
https://www.readbyqxmd.com/read/27338676/cytological-features-of-nut-midline-carcinoma-arising-in-sino-nasal-tract-and-parotid-gland-report-of-two-new-cases-and-review-of-the-literature
#10
Jerzy Klijanienko, Christophe Le Tourneau, José Rodriguez, Martial Caly, Stamatios Theocharis
Nuclear Protein in Testis (NUT) Midline Carcinoma (NMC) represents a recently described, uncommon, high-grade and extremely lethal malignancy mainly occurring in children and young adults. Such tumors are genetically characterized by chromosomal rearrangements of the NUT gene. Cytological description of NUT carcinoma is limited and only seven cases were reported up to date. We show here another two cases studied cytologically with molecular and immunohistochemical confirmation. In both cases smears were hypercellular and composed of isolated or clustered small to medium-sized in size with roundish and oval shape cells...
September 2016: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/27263824/nut-midline-carcinoma-of-the-lung-a-rare-form-of-lung-cancer
#11
Cristina Benito Bernáldez, Concepción Romero Muñoz, Virginia Almadana Pacheco
No abstract text is available yet for this article.
June 2, 2016: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/27028217/nuclear-protein-in-testis-midline-carcinoma-of-larynx-an-underdiagnosed-entity
#12
Ajay Kundra, Mirela Andrei, William Westra, Rashid Chaudhry, Harry Moussouris, Arash Gohari, Jen C Wang
BACKGROUND: Nuclear protein in testis (NUT) carcinomas are very rare and have a very poor survival rate. The most common sites of involvement include the nasal cavity, sinus, and mediastinum. Laryngeal NUT midline carcinoma is extremely rare, with only 2 cases reported thus far. Here, we are describing another case of NUT laryngeal carcinoma. METHODS AND RESULTS: The patient was a light smoker and nondrinker who presented with upper respiratory tract obstruction...
August 2016: Head & Neck
https://www.readbyqxmd.com/read/26976114/clinical-response-of-carcinomas-harboring-the-brd4-nut-oncoprotein-to-the-targeted-bromodomain-inhibitor-otx015-mk-8628
#13
Anastasios Stathis, Emanuele Zucca, Mohamed Bekradda, Carlos Gomez-Roca, Jean-Pierre Delord, Thibault de La Motte Rouge, Emmanuelle Uro-Coste, Filippo de Braud, Giuseppe Pelosi, Christopher A French
UNLABELLED: The antineoplastic, prodifferentiative effects of bromodomain and extra-terminal (BET) bromodomain (BRD) inhibitors were initially discovered in NUT midline carcinoma (NMC), an aggressive subtype of squamous cancer driven by the BRD4-NUT fusion oncoprotein. BRD4-NUT blocks differentiation and maintains tumor growth through a potent chromatin-modifying mechanism. OTX015/MK-8628, a novel oral BET inhibitor, targets BRD2/3/4/T with preclinical activity in NMC and several other tumor types and is currently in clinical development...
May 2016: Cancer Discovery
https://www.readbyqxmd.com/read/26888512/-nut-midline-carcinoma-of-sinonasal-tract-report-of-a-case
#14
Li Yang, Shoujing Yang
No abstract text is available yet for this article.
December 2015: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/26847175/evaluation-of-nkx2-2-expression-in-round-cell-sarcomas-and-other-tumors-with-ewsr1-rearrangement-imperfect-specificity-for-ewing-sarcoma
#15
Yin P Hung, Christopher D M Fletcher, Jason L Hornick
Ewing sarcoma shows considerable histologic overlap with other round cell tumors. NKX2-2, a homeodomain transcription factor involved in neuroendocrine/glial differentiation and a downstream target of EWSR1-FLI1, has been reported as an immunohistochemical marker for Ewing sarcoma. We assessed the specificity of NKX2-2 for Ewing sarcoma compared with other round cell malignant neoplasms and other soft tissue tumors with EWSR1 translocations. We evaluated whole-tissue sections from 270 cases: 40 Ewing sarcomas (4 with atypical/large cell features), 20 CIC-DUX4 sarcomas, 5 BCOR-CCNB3 sarcomas, 9 unclassified round cell sarcomas, 10 poorly differentiated synovial sarcomas, 10 lymphoblastic lymphomas, 10 alveolar rhabdomyosarcomas, 10 embryonal rhabdomyosarcomas, 10 Merkel cell carcinomas, 10 small cell carcinomas, 20 melanomas, 5 NUT midline carcinomas, 10 Wilms tumors, 10 neuroblastomas, 10 olfactory neuroblastomas, 12 mesenchymal chondrosarcomas, 10 angiomatoid fibrous histiocytomas, 10 clear cell sarcomas, 5 gastrointestinal clear cell sarcoma-like tumors, 5 desmoplastic small round cell tumors, 10 extraskeletal myxoid chondrosarcomas, 10 soft tissue and cutaneous myoepitheliomas, and 19 myoepithelial carcinomas...
April 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/26830406/newly-described-tumor-entities-in-sinonasal-tract-pathology
#16
Justin A Bishop
Surgical pathology of the sinonasal tract (nasal cavity and paranasal sinuses) is extremely challenging due in part to the tremendous diversity of tumor types that may arise in this region. Compounding the difficulty, a number of new sinonasal tumor entities have been recently described, and pathologists may not yet be familiar with these neoplasms. This manuscript will review the clinicopathologic features of some of the newly described sinonasal tumor types: NUT midline carcinoma, HPV-related carcinoma with adenoid cystic-like features, SMARCB1 (INI-1) deficient sinonasal carcinoma, biphenotypic sinonasal sarcoma, and renal cell-like adenocarcinoma...
March 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/26776744/recently-described-neoplasms-of-the-sinonasal-tract
#17
REVIEW
Justin A Bishop
Surgical pathology of the sinonasal region (i.e., nasal cavity and the paranasal sinuses) is notoriously difficult, due in part to the remarkable diversity of neoplasms that may be encountered in this area. In addition, a number of neoplasms have been only recently described in the sinonasal tract, further compounding the difficulty for pathologists who are not yet familiar with them. This manuscript will review the clinicopathologic features of some of the recently described sinonasal tumor types: NUT midline carcinoma, HPV-related carcinoma with adenoid cystic-like features, SMARCB1 (INI-1) deficient sinonasal carcinoma, biphenotypic sinonasal sarcoma, and adamantinoma-like Ewing family tumor...
March 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/26667959/intrapericardial-nut-midline-carcinoma-unusual-presentation-of-a-rare-tumor-and-literature-review-with-management-considerations
#18
REVIEW
Stefani Samples, Katrina Gleditsch, Anastasios Polimenakos
Rearrangements in the nuclear protein in testis (NUT) gene cause carcinomas that represent a rare but aggressive tumor type that often present at advanced stages in midline structures. Survival rarely exceeds 12 months from the time of diagnosis. There have been no reports of a primary cardiac presentation, and few studies have reported on the numerous treatment strategies. Given their aggressive and invasive nature, NUT midline carcinomas present a therapeutic dilemma. Treatment may include surgical resection, chemotherapy, or radiotherapy, but no consistently successful treatment has been established...
January 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/26663801/nut-midline-carcinoma-morphoproteomic-characterization-with-genomic-and-therapeutic-correlates
#19
Hongxia Sun, Mary F McGuire, Songlin Zhang, Robert E Brown
NUT midline carcinoma is a rare entity arising primarily in the midline of teenagers and young adults. Genomically, it is associated with a translocation involving a nuclear protein in testis (NUT) gene with other genes, most commonly, the BRD4 gene. The resultant is a partial or near total block in differentiation of tumor cells into mature squamous elements. Such tumors are resistant to conventional therapy with a reported mean survival at less than 1 year. In this study, we investigated two cases with genomic confirmation as NUT midline carcinoma by morphoproteomic analysis using immunohistochemical antibodies...
2015: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/26551281/a-novel-brd4-nut-fusion-in-an-undifferentiated-sinonasal-tumor-highlights-alternative-splicing-as-a-contributing-oncogenic-factor-in-nut-midline-carcinoma
#20
A Stirnweiss, K McCarthy, J Oommen, M L Crook, K Hardy, U R Kees, S D Wilton, A Anazodo, A H Beesley
NUT midline carcinoma (NMC) is a fatal cancer that arises in various tissues along the upper midline of the body. The defining molecular feature of NMC is a chromosomal translocation that joins (in the majority of cases) the nuclear testis gene NUT (NUTM1) to the bromodomain protein family member 4 (BRD4) and thereby creating a fusion oncogene that disrupts cellular differentiation and drives the disease. In this study, we report the case of an adolescent NMC patient presenting with severe facial pain, proptosis and visual impairment due to a mass arising from the ethmoid sinus that invaded the right orbit and frontal lobe...
2015: Oncogenesis
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