Carcinoma raro, altamente agressivo e letal que afeta crianças e adultos jovens. Surge de estruturas epiteliais da linha média, mais comumente cabeça, pescoço e mediastino. É um carcinoma pouco diferenciado e é caracterizado por mutações e rearranjos do gene NUT. Está presente uma translocação balanceada t(15;19) que resulta na criação de um gene de fusão envolvendo o gene NUT, mais comumente o gene de fusão BRD4-NUT.
Introdução
O que você precisa saber de cara
Carcinoma raro, altamente agressivo e letal que afeta crianças e adultos jovens. Surge de estruturas epiteliais da linha média, mais comumente cabeça, pescoço e mediastino. É um carcinoma pouco diferenciado e é caracterizado por mutações e rearranjos do gene NUT. Está presente uma translocação balanceada t(15;19) que resulta na criação de um gene de fusão envolvendo o gene NUT, mais comumente o gene de fusão BRD4-NUT.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Plays a role in the regulation of proliferation. Regulates TERT expression by modulating SP1 binding to TERT promoter binding sites
CytoplasmNucleus
Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation (PubMed:20871596, PubMed:23086925, PubMed:23317504, PubMed:29176719, PubMed:29379197). Remains associated with acetylated chromatin throughout the entire cell cycle and provides epigenetic memory for postmitotic G1 gene transcription by preserving acetylated chromatin status and maintaining high-order chromatin structu
NucleusChromosome
Cornelia de Lange syndrome 6
A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. CDLS6 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
132 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Carcinoma da linha média NUT
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
19 ensaios clínicos encontrados.
Publicações mais relevantes
A Rare Case of Mediastinal NUT (Nuclear Protein in Testis) Carcinoma Presenting with Acute Respiratory Failure: A Case Report.
NUT (nuclear protein in testis) carcinoma is a rare but aggressive cancer, which was first described in 1991. Given the rarity of this enigmatic entity, risk factors are unknown, treatment options are limited, and the prognosis is dismal. We present the case of a 30-year-old male who presented with acute respiratory failure secondary to a rapidly enlarging mediastinal mass and was subsequently diagnosed with NUT carcinoma. A 30-year-old male presented with symptoms of rapidly progressive shortness of breath and chest pain. CT chest revealed mediastinal lymphadenopathy with extrinsic compression of the left lower lobe bronchus leading to lobar atelectasis. Bronchoscopy with endobronchial ultrasonography was performed to obtain a fine-needle aspirate of the subcarinal lymph node, which was consistent with poorly differentiated carcinoma. An ultrasound-guided percutaneous right supraclavicular core-needle biopsy confirmed NUT carcinoma. Despite prompt initiation of mechanical ventilation as well as chemotherapy, the patient's condition continued to deteriorate and he passed away after being hospitalized for 127 days. Mediastinal NUT carcinoma is a rare cause of acute respiratory failure. Despite the rarity of this cancer, its aggressive and serious nature necessitates all physicians to be aware of this clinical entity and maintain a high index of suspicion. Prompt diagnosis and initiation of chemotherapy is essential. The prognosis remains dismal given that the cancer is resistant to known antineoplastic therapies. Further research should focus on new treatment paradigms for this rare cancer and patients should be encouraged to participate in clinical trials.
International guidelines on the diagnosis and treatment of NUT carcinoma.
Nuclear protein in testis (NUT) carcinoma (NC) represents a rare, clinically aggressive cancer defined by pathognomonic NUT Midline Carcinoma Family Member 1 (NUTM1) gene fusions, with bromodomain and extraterminal domain (BET) protein 4 (BRD4)-NUTM1 being the predominant oncogenic driver. Since its description in 1991, gradual advances have clarified the pathologic mechanisms of NC and its diagnostic methods; however, NC treatment remains a significant challenge. Moreover, diagnostic and treatment approaches for this cancer require further validation and standardization. These guidelines were developed by the Chinese Alliance of Research for NC (ChARN) based on current evidence in the literature and incorporate consensus-based input from multiple international experts. They provide comprehensive guidance on NC diagnosis and treatment, covering epidemiology, pathogenesis, diagnostic methods, therapeutic strategies, BET-inhibitor toxicity, palliative care, and prognostic assessment during follow-up. They also emphasize the importance of multidisciplinary team collaboration in NC treatment and recommend prioritizing enrollment in prospective clinical trials for patients. Current mainstays of treatment include surgical resection, radiotherapy, and medical treatment (chemotherapy, targeted therapy, and immunotherapy), although no standard treatment protocol exists. Future research directions include improving diagnostic efficiency, exploring new therapeutic strategies (such as highly selective BET inhibitors, BET-inhibitor combinations, and PROTAC technologies), and recommending basket trials as a research approach for patients with NUTM1 gene fusions.
Primary Uterine NUT Carcinoma: A Case Report and Literature Review.
Background: Nuclear protein in testis (NUT) carcinoma is a rare, aggressive, and poorly differentiated epithelial malignancy characterized by the rearrangement of NUTM1 (NUT midline carcinoma family member 1) on 15q14. It primarily originates along the midline structures, including the head, neck, thorax, and mediastinum. Although NUT carcinoma of the pelvic gynecological organs is exceedingly rare, reported cases have been limited to primary or metastatic ovarian tumors. Here, we present the first documented case of primary uterine NUT carcinoma. Case presentation: A 53-year-old postmenopausal woman presented with abnormal uterine bleeding and a uterine mass. She underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy. The initial postoperative histopathological evaluation suggested undifferentiated endometrial sarcoma; however, subsequent immunohistochemical (IHC) analysis and fluorescence in situ hybridization revealed NUTM1 rearrangement, confirming the diagnosis of NUT carcinoma. The patient experienced tumor recurrence six months postoperatively and succumbed to the disease nine months later. Discussion: The pathological diagnosis was challenging; the presence of abrupt squamous differentiation prompted further IHC analysis, leading to the definitive diagnosis. Primary uterine NUT carcinoma may be misdiagnosed as other undifferentiated uterine tumors due to its rarity and histological overlap. Conclusions: Given the diagnostic challenges, NUT IHC staining and molecular testing for NUTM1 rearrangement should be considered in undifferentiated uterine tumors with ambiguous histopathological features.
An Early-Stage Nuclear Protein in Testis Carcinoma of the Lung in an Older Woman.
A nuclear protein in testis (NUT) carcinoma is a rare, aggressive malignancy often diagnosed late due to non-specific symptoms and low awareness. A 69-year-old woman presented with haemoptysis and a positron emission tomography-avid lung nodule (cT1N0M0). An initial bronchoscopic biopsy suggested small cell carcinoma with negative NUT staining. Following a lobectomy, immunohistochemical analysis showed strong nuclear NUT positivity, and fluorescence in situ hybridization confirmed NUT rearrangement. This case was atypical due to the patient's age, early stage, and initial misdiagnosis from a limited biopsy. The non-specific presentation of an NUT carcinoma requires a high degree of suspicion, and small biopsies risk a misdiagnosis.
A Case Report of Undifferentiated NUT Carcinoma of Lung Diagnosed by EBUS-FNA: If You Hear Hoofbeats Do Not Assume They Are Horses.
NUT carcinoma (NC) is a rare and highly aggressive type of poorly differentiated carcinoma that originates from undefined anatomical sites, primarily in midline structures of the upper respiratory tract. We report the case of a male patient in his fifth decade of life who is a non-smoker. He presented with symptoms of dyspnea and cough, and had previously been treated for an atypical infectious process. A PET scan revealed a right pulmonary hilar mass alongside pathological lymphadenopathy. An endobronchial ultrasound-guided fine needle aspiration (EBUS-FNA) of the subcarinal lymph node was performed, followed by a cytomorphological evaluation in situ (Rapid On-Site Evaluation-ROSE) for sample management. The smear showed high hypercellularity with loosely cohesive cells arranged mostly in a single-cell pattern, exhibiting a poorly differentiated appearance. Immunohistochemical studies on the cell block indicated nuclear positivity for NUT expression, confirming the diagnosis of pulmonary NC. Poorly differentiated high-grade neoplasms in middle-aged patients present a significant challenge when the tumor sample is limited. The cytopathologist's role is to optimize the available material for a complete and accurate diagnosis, which is essential for appropriate treatment.
Publicações recentes
Downhill Esophageal Variceal Rupture Caused by Superior Vena Cava Syndrome in NUT Carcinoma: A Case Report.
A Rare Case of Mediastinal NUT (Nuclear Protein in Testis) Carcinoma Presenting with Acute Respiratory Failure: A Case Report.
International guidelines on the diagnosis and treatment of NUT carcinoma.
Primary Uterine NUT Carcinoma: A Case Report and Literature Review.
An Early-Stage Nuclear Protein in Testis Carcinoma of the Lung in an Older Woman.
📚 EuropePMC127 artigos no totalmostrando 169
A Rare Case of Mediastinal NUT (Nuclear Protein in Testis) Carcinoma Presenting with Acute Respiratory Failure: A Case Report.
International medical case reports journalInternational guidelines on the diagnosis and treatment of NUT carcinoma.
Innovation (Cambridge (Mass.))Primary Uterine NUT Carcinoma: A Case Report and Literature Review.
Clinics and practiceAn Early-Stage Nuclear Protein in Testis Carcinoma of the Lung in an Older Woman.
Interdisciplinary cardiovascular and thoracic surgeryA Case Report of Undifferentiated NUT Carcinoma of Lung Diagnosed by EBUS-FNA: If You Hear Hoofbeats Do Not Assume They Are Horses.
Diagnostic cytopathologyNuclear Protein in Testis (NUT) Carcinoma With Nasopharyngeal and Intracranial Involvement: A Case Report.
CureusEtoposide and cisplatin in combination with anlotinib for lung NUT carcinoma: a case report.
Frontiers in oncologyRapid Progression of Primary Pulmonary NUT Midline Carcinoma: A Case Report and Literature Review.
Respirology case reportsAnti-angiogenic therapy as a beacon of hope in the battle against pulmonary NUT midline carcinoma.
Frontiers of medicinep63-negative thoracic NUT carcinoma - A potential diagnostic pitfall.
Indian journal of pathology & microbiology68 Ga-FAP-2286 PET/CT Imaging of Nuclear Protein of the Testis Midline Carcinoma in the Lung.
Clinical nuclear medicineSinonasal NUT Carcinoma: A Call for Increased Attention to a Vital Clinical Diagnosis.
Indian journal of surgical oncologyCerebral CIC-NUTM1 rearrangement sarcoma- case report and review of the literature.
Frontiers in oncologyChallenging diagnosis in pulmonary nut carcinoma: A report of two cases with different histopathologic and molecular features and a novel NUTM1::SPECC1 gene fusion.
Histology and histopathologyPulmonary NUT carcinoma, an elusive and refractory entity, shows transient response to chemotherapeutics and PD-1 inhibitor: a case report and literature review.
Frontiers in immunologyComparison of Molecular Testing Methodologies for CIC-Rearranged Sarcomas.
Archives of pathology & laboratory medicineAcetylation of histone H2B on lysine 120 regulates BRD4 binding to intergenic enhancers.
bioRxiv : the preprint server for biologyAdverse effects of electronic cigarettes on human health.
Journal of dental sciencesPrimary thyroid nuclear protein in testis carcinoma: a case report and literature review.
Gland surgeryNuclear protein in testis (NUT) midline carcinoma of the larynx: A rare case report of a paediatric patient and literature review.
Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologiqueCIC::NUTM1 sarcomas occurred in soft tissues of upper limbs : a rare case report and literature review.
Diagnostic pathologyImmunotherapy experience in sinonasal NUT midline carcinoma, case report.
Journal of cancer research and therapeuticsMetabolic and Epigenetic Reprogramming in a Case of Nuclear Protein in Testis (NUT) Carcinoma of the Retroperitoneum.
CureusA Rare Case of P63-Negative Sinonasal Nut Midline Carcinoma in the Elderly.
European journal of case reports in internal medicineTherapeutic approaches to sinonasal NUT carcinoma: a systematic review.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryDevelopment of Potent Dual BET/HDAC Inhibitors via Pharmacophore Merging and Structure-Guided Optimization.
ACS chemical biologyPrimary pulmonary nuclear protein of the testis midline carcinoma: case report and systematic review with pooled analysis.
Frontiers in oncology[Pulmonary nuclear protein of the testis midline carcinoma:a case report].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases[Clinicopathological analysis of nuclear protein in testis midline carcinoma].
Zhonghua bing li xue za zhi = Chinese journal of pathologyDiagnostic algorithm for challenging blue cell sinonasal carcinoma.
Pathology, research and practicePrimary pulmonary NUT midline carcinoma: An elusive and a rare diagnostic entity.
Journal of cancer research and therapeuticsA sinonasal NUT midline carcinoma in an 84-year-old man undergoing radiation and proton therapy.
Clinical case reportsProlonged Survival of NUT Midline Carcinoma and Current Approaches to Treatment.
The oncologistThe expanding universe of NUTM1 fusions in pediatric cancer.
Clinical and translational science[Radiologic Manifestations of Pulmonary Nuclear Protein in Testis Midline Carcinoma: A Case Report].
Journal of the Korean Society of RadiologyCase report of a pan-cytokeratin negative NUT midline carcinoma of pulmonary origin, a BRD3-NUT variant: Challenges in cytomorphologic presentation.
Diagnostic cytopathologyMultimodality imaging and treatment of paranasal sinuses nuclear protein in testis carcinoma: A case report.
World journal of clinical casesNUT Carcinoma-An Underdiagnosed Malignancy.
Frontiers in oncologyNUT Midline Carcinoma: A Rare Solid Tumour Characterized by Chromosome Rearrangement.
Evidence-based complementary and alternative medicine : eCAMNUT Is a Driver of p300-Mediated Histone Hyperacetylation: From Spermatogenesis to Cancer.
CancersCombined Neuroendocrine and Squamous Cell Carcinoma of the Sinonasal Tract: A Morphologic and Immunohistochemical Analysis and Review of Literature.
Head and neck pathologyNUT Carcinoma: Clinicopathologic Features, Molecular Genetics and Epigenetics.
Frontiers in oncologyNuclear protein of the testis midline carcinoma of the thorax.
Japanese journal of clinical oncologyNUT carcinoma of the thorax in a 7-year-old child.
Radiology case reportsNUT midline lung cancer: a rare case report with literature review.
AME case reportsNUT midline carcinoma as a primary lung tumor treated with anlotinib combined with palliative radiotherapy: a case report.
Diagnostic pathologyNUT Carcinoma of the Submandibular Gland: A Case at This Uncommon Site with Review of the Literature.
Head and neck pathologyIntra-, para-, and suprasellar nuclear protein of testis carcinoma with infiltration of cavernous sinus and clivus-a case report.
Acta neurochirurgicaCase Report and Literature Review: Primary Pulmonary NUT-Midline Carcinoma.
Frontiers in oncologyDiagnosis of NUT Carcinoma Despite False-Negative Next-Generation Sequencing Results: A Case Report and Literature Review.
OncoTargets and therapy[NUT-Midline-Carcinoma in patients of advanced age - a rare differential diagnosis].
Laryngo- rhino- otologieClinicopathological and molecular characterizations of pulmonary NUT midline carcinoma.
Cancer medicinemiR-766-5p Targets Super-Enhancers by Downregulating CBP and BRD4.
Cancer researchGenomic profiling of solid tumors harboring BRD4-NUT and response to immune checkpoint inhibitors.
Translational oncologyClinical, Radiographic, Pathologic Characterization and Survival Outcomes of Nuclear Protein of the Testis Carcinoma.
Journal of computer assisted tomographyMisleading Germ Cell Phenotype in Pulmonary NUT Carcinoma Harboring the ZNF532-NUTM1 Fusion.
The American journal of surgical pathologyIncidence of NUT carcinoma in Western Australia from 1989 to 2014: a review of pediatric and adolescent cases from Perth Children's Hospital.
BMC cancerThoracic NUT carcinoma: Common pathological features despite diversity of clinical presentations.
Lung cancer (Amsterdam, Netherlands)Vimentin-positive and Alpha-fetoprotein-elevated Nuclear Protein of the Testis Midline Carcinoma: A Case Report and Review of the Literature.
Internal medicine (Tokyo, Japan)Novel brd4 inhibitors with a unique scaffold exhibit antitumor effects.
Oncology lettersNUT Midline Carcinoma of the Lung: Computed Tomography Findings in 10 Patients.
Journal of computer assisted tomography[A Case Report of Primary Pulmonary NUT Carcinoma and Literature Review].
Zhongguo fei ai za zhi = Chinese journal of lung cancerUpdate on genetically defined lung neoplasms: NUT carcinoma and thoracic SMARCA4-deficient undifferentiated tumors.
Virchows Archiv : an international journal of pathologyThe primary pulmonary NUT carcinomas and some uncommon somatic mutations identified by next-generation sequencing: a case report.
AME case reportsNUT midline carcinoma in a young pregnant female: a case report.
World journal of surgical oncologyNuclear protein in testis midline carcinoma in a Turkish boy: a case report.
Asian biomedicine : research, reviews and newsNUT Carcinoma in a Patient with Unusually Long Survival and False Negative FISH Results.
Head and neck pathologyImaging spectrum of NUT carcinomas.
Clinical imagingClinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma.
Orphanet journal of rare diseasesNUT midline carcinomas and their differentials by a single molecular profiling method: a new promising diagnostic strategy illustrated by a case report.
Virchows Archiv : an international journal of pathologyMetastatic NUT Midline Carcinoma Treated With Aggressive Neoadjuvant Chemotherapy, Radiation, and Resection: A Case Report and Review of the Literature.
Journal of pediatric hematology/oncologyA novel NAP1L4/NUTM1 fusion arising from translocation t(11;15)(p15;q12) in a myeloid neoplasm with eosinophilia and rearrangement of PDGFRA highlights an unusual clinical feature and therapeutic reaction.
Annals of hematologyYAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal.
Head and neck pathologyCombined Targeting of the BRD4-NUT-p300 Axis in NUT Midline Carcinoma by Dual Selective Bromodomain Inhibitor, NEO2734.
Molecular cancer therapeuticsTherapeutic targeting of p300/CBP HAT domain for the treatment of NUT midline carcinoma.
OncogeneAn Anatomical Site and Genetic-Based Prognostic Model for Patients With Nuclear Protein in Testis (NUT) Midline Carcinoma: Analysis of 124 Patients.
JNCI cancer spectrumHow Much Can We Bet on Activity of BET Inhibitors Beyond NUT-Midline Carcinoma?
JNCI cancer spectrumClinical management of emerging sinonasal malignancies.
Head & neckClinicopathological Analysis of Five Cases of NUT Midline Carcinoma, including One with the Gingiva.
BioMed research internationalSalivary Gland NUT Carcinoma with Prolonged Survival in Children: Case Illustration and Systematic Review of Literature.
Head and neck pathologySinonasal NUT midline carcinoma: A new histological entity.
Indian journal of pathology & microbiologySuccessful treatment of a case with NUT midline carcinoma in the larynx and review of the literature.
Clinical case reportsHDAC Overexpression in a NUT Midline Carcinoma of the Parotid Gland with Exceptional Survival: A Case Report.
Head and neck pathology[Lung Cancer with Prominent Mediastinal Lymphadenopathy - Who Thinks of NUT Carcinoma?].
Pneumologie (Stuttgart, Germany)Orbital involvement by NUT midline carcinoma: new presentation and encouraging outcome managed by radiotherapy combined with tyrosine kinase inhibitor: a case report.
Diagnostic pathology[Nuclear protein in testis (NUT) midline carcinoma].
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinSMARCB1 (INI-1) and NUT immunoexpression in a large series of head and neck carcinomas in a Brazilian reference center.
Head & neckNUT midline carcinoma: Current concepts and future perspectives of a novel tumour entity.
Critical reviews in oncology/hematologyThe first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report.
Journal of medical case reportsTumor Mutation Burden and Checkpoint Immunotherapy Markers in NUT Midline Carcinoma.
Applied immunohistochemistry & molecular morphology : AIMMNUT midline carcinoma of the head and neck: current perspectives.
OncoTargets and therapyNUT midline carcinoma in the right orbit: a case report.
Cancer biology & therapyNuclear protein of the testis midline carcinoma in the oral cavity: retrospective review of those initially diagnosed as poorly differentiated squamous cell carcinoma using an anti-C52B1 antibody.
International journal of oral and maxillofacial surgeryA 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature.
Journal of medical case reportsHigh-Grade Sinonasal Carcinoma: Classification Through Molecular Profiling.
Archives of pathology & laboratory medicineMidline carcinoma expressing NUT in malignant effusion cytology.
Diagnostic cytopathologyNUTM1-rearranged neoplasia: a multi-institution experience yields novel fusion partners and expands the histologic spectrum.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncNUT carcinoma of the nasal cavity that responded to a chemotherapy regimen for Ewing's sarcoma family of tumors: a case report.
BMC cancerNUT Carcinoma: Clinicopathologic features, pathogenesis, and treatment.
Pathology internationalNut Directs p300-Dependent, Genome-Wide H4 Hyperacetylation in Male Germ Cells.
Cell reportsGenetic modifiers of the BRD4-NUT dependency of NUT midline carcinoma uncovers a synergism between BETis and CDK4/6is.
Genes & developmentAbrupt Dyskeratotic and Squamoid Cells in Poorly Differentiated Carcinoma: Case Study of Two Thoracic NUT Midline Carcinomas with Cytohistologic Correlation.
Journal of pathology and translational medicineNUT midline carcinoma with leukemic presentation mimicking CD34-positive acute leukemia.
BloodRediagnosis of Lung Cancer as NUT Midline Carcinoma Based on Clues From Tumor Genomic Profiling.
Journal of the National Comprehensive Cancer Network : JNCCNNUT Midline Carcinoma in the Mediastinum in a Ten-Year-Old Boy.
Archivos de bronconeumologiamiR-3140 suppresses tumor cell growth by targeting BRD4 via its coding sequence and downregulates the BRD4-NUT fusion oncoprotein.
Scientific reports[Sinonasal tumors : News from the WHO with special reference to mesenchymal entities].
Der PathologePatterns of care and impact of prognostic factors in the outcome of NUT midline carcinoma: a systematic review and individual patient data analysis of 119 cases.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryNUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors.
The American journal of surgical pathologyMolecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-an aggressive and fatal disease.
OncotargetAnalysis of DNA methylation and microRNA expression in NUT (nuclear protein in testis) midline carcinoma of the sinonasal tract: a clinicopathological, immunohistochemical and molecular genetic study.
NeoplasmaNUT midline carcinoma as a primary lung tumor: a case report.
Journal of thoracic diseaseA 48-Year-Old Male with Cutaneous Metastases of NUT Midline Carcinoma Misdiagnosed as Herpes Zoster.
Case reports in oncologyNUT Midline Carcinoma of the Lung in a Six-Year-Old Child.
Fetal and pediatric pathologyPediatric NUT-midline carcinoma: Therapeutic success employing a sarcoma based multimodal approach.
Pediatric hematology and oncologyUncommon somatic mutations in metastatic NUT midline carcinoma.
TumoriNUT Midline Carcinoma: A Series of Five Cases, Including One with Unusual Clinical Course.
Head and neck pathologySystematic Kinase Inhibitor Profiling Identifies CDK9 as a Synthetic Lethal Target in NUT Midline Carcinoma.
Cell reportsNUT midline carcinoma causing critical stenosis of the coronary arteries: CT demonstration.
SurgeryDeciphering the Role of microRNAs in BRD4-NUT Fusion Gene Induced NUT Midline Carcinoma.
BioinformationNuclear Protein in Testis Midline Carcinoma Presenting in an Infant as a Pericardial Mass with Staging by 18F-Fluorodeoxyglucose-positron Emission Tomography/Computed Tomography.
World journal of nuclear medicineNUT carcinoma in children and adults: A multicenter retrospective study.
Pediatric blood & cancerUncovering BRD4 hyperphosphorylation associated with cellular transformation in NUT midline carcinoma.
Proceedings of the National Academy of Sciences of the United States of AmericaBromodomain Protein BRD4 Is a Transcriptional Repressor of Autophagy and Lysosomal Function.
Molecular cellEctopic protein interactions within BRD4-chromatin complexes drive oncogenic megadomain formation in NUT midline carcinoma.
Proceedings of the National Academy of Sciences of the United States of AmericaNUT Midline Carcinoma: A Rare Malignancy.
Cancer control : journal of the Moffitt Cancer CenterTargeting chromatin defects in selected solid tumors based on oncogene addiction, synthetic lethality and epigenetic antagonism.
Annals of oncology : official journal of the European Society for Medical OncologyAlpha-fetoprotein elevation in NUT midline carcinoma: a case report.
BMC cancerNUT Midline Carcinoma of the Sublingual Gland: Clinical Presentation and Review.
Head and neck pathologyComplex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma.
Annals of oncology : official journal of the European Society for Medical OncologySMARCA4-deficient Sinonasal Carcinoma.
Head and neck pathologyDual HDAC and PI3K Inhibitor CUDC-907 Downregulates MYC and Suppresses Growth of MYC-dependent Cancers.
Molecular cancer therapeuticsNUT midline carcinoma of the larynx: an international series and review of the literature.
HistopathologyCytopathologic and immunophenotypic changes in NUT midline carcinoma after targeted therapy.
Cancer cytopathologyNUT midline carcinoma mimicking a germ cell tumor: a case report.
BMC cancerNUT Midline Carcinoma of the Nasal Cavity.
Head and neck pathologyThe Oncoprotein BRD4-NUT Generates Aberrant Histone Modification Patterns.
PloS oneINI1 (SMARCB1)-Deficient Sinonasal Carcinoma: A Clinicopathologic Report of 2 Cases.
Head and neck pathologyNuclear protein in testis (NUT) midline carcinoma with a novel three-way translocation (4;15;19)(q13;q14;p13.1).
PathologyPoorly differentiated sinonasal tract malignancies: A review focusing on recently described entities.
Ceskoslovenska patologieIntensive treatment and survival outcomes in NUT midline carcinoma of the head and neck.
CancerSmall-Molecule Targeting of BET Proteins in Cancer.
Advances in cancer researchCytopathologic features of NUT midline carcinoma: A series of 26 specimens from 13 patients.
Cancer cytopathologyCytological features of NUT midline carcinoma arising in sino-nasal tract and parotid gland: Report of two new cases and review of the literature.
Diagnostic cytopathologyTargeting BET bromodomain proteins in solid tumors.
OncotargetNUT midline carcinoma of the lung, a rare form of lung cancer.
Archivos de bronconeumologiaNuclear protein in testis midline carcinoma of larynx: An underdiagnosed entity.
Head & neckClinical Response of Carcinomas Harboring the BRD4-NUT Oncoprotein to the Targeted Bromodomain Inhibitor OTX015/MK-8628.
Cancer discovery[NUT midline carcinoma of sinonasal tract: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyNewly Described Tumor Entities in Sinonasal Tract Pathology.
Head and neck pathologyRecently described neoplasms of the sinonasal tract.
Seminars in diagnostic pathologyIntrapericardial NUT Midline Carcinoma: Unusual Presentation of a Rare Tumor and Literature Review with Management Considerations.
Pediatric cardiologyNUT Midline Carcinoma: Morphoproteomic Characterization with Genomic and Therapeutic Correlates.
Annals of clinical and laboratory scienceSinonasal small round blue cell tumors: An approach to diagnosis.
Seminars in diagnostic pathologyA novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinoma.
OncogenesisNuclear protein in testis midline carcinoma with unusual elevation of α-fetoprotein and synaptophysin positivity: a case report and review of the literature.
Expert review of anticancer therapyThe Gross Appearance of a NUT Midline Carcinoma.
International journal of surgical pathologySinonasal NUT-Midline Carcinoma - A Multimodality Approach to Diagnosis, Staging and Post-Surgical Restaging.
CureusThe oncogenic BRD4-NUT chromatin regulator drives aberrant transcription within large topological domains.
Genes & developmentImpressive Response to Dose-Dense Chemotherapy in a Patient with NUT Midline Carcinoma.
The American journal of case reportsCytologic findings of NUT midline carcinoma in the hilum of the lung.
Diagnostic cytopathologyFirst evidence of treatment efficacy in metastatic carcinoma of the parotid gland with BRD4/NUT translocation.
Journal of chemotherapy (Florence, Italy)Primary Pulmonary NUT Midline Carcinoma: Clinical, Radiographic, and Pathologic Characterizations.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung CancerNUT Midline Carcinoma in Elderly Patients: Usefulness of 18F-FDG PET/CT for Treatment Assessment.
Clinical nuclear medicineA case of endobronchial NUT midline carcinoma with intraluminal growth.
Anticancer researchCytological Features of a Variant NUT Midline Carcinoma of the Lung Harboring the NSD3-NUT Fusion Gene: A Case Report and Literature Review.
Case reports in pathologyNUT midline carcinoma presenting with bilateral ovarian metastases: a case report.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsHistone deacetylase inhibitor for NUT midline carcinoma.
Pediatric blood & cancerNUT protein immunoreactivity in ovarian germ cell tumours.
PathologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Carcinoma da linha média NUT.
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Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Carcinoma da linha média NUT
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Perguntas, dicas e experiências compartilhadas aqui na página
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A Rare Case of Mediastinal NUT (Nuclear Protein in Testis) Carcinoma Presenting with Acute Respiratory Failure: A Case Report.
- International guidelines on the diagnosis and treatment of NUT carcinoma.
- Primary Uterine NUT Carcinoma: A Case Report and Literature Review.
- An Early-Stage Nuclear Protein in Testis Carcinoma of the Lung in an Older Woman.
- A Case Report of Undifferentiated NUT Carcinoma of Lung Diagnosed by EBUS-FNA: If You Hear Hoofbeats Do Not Assume They Are Horses.
- Downhill Esophageal Variceal Rupture Caused by Superior Vena Cava Syndrome in NUT Carcinoma: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:443167(Orphanet)
- MONDO:0005563(MONDO)
- GARD:21852(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q6955667(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
