NMC
MCID: NTM002
MIFTS: 43

Nut Midline Carcinoma (NMC)

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Nut Midline Carcinoma

MalaCards integrated aliases for Nut Midline Carcinoma:

Name: Nut Midline Carcinoma 12 59 15 17 72
Nuclear Protein in Testis Midline Carcinoma 12
Nmc 59

Characteristics:

Orphanet epidemiological data:

59
nut midline carcinoma
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060463
NCIt 50 C45716
ICD10 via Orphanet 34 C80.9
Orphanet 59 ORPHA443167
UMLS 72 C1707291

Summaries for Nut Midline Carcinoma

Disease Ontology : 12 A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.

MalaCards based summary : Nut Midline Carcinoma, also known as nuclear protein in testis midline carcinoma, is related to ewing sarcoma and rapidly involuting congenital hemangioma. An important gene associated with Nut Midline Carcinoma is NUTM1 (NUT Midline Carcinoma Family Member 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Pathways Affected in Adenoid Cystic Carcinoma. The drugs Rucaparib and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include testis, lung and tonsil, and related phenotypes are leukemia and ewing sarcoma

Wikipedia : 75 NUT carcinoma (formerly NUT midline carcinoma), is a rare genetically defined, very aggressive squamous... more...

Related Diseases for Nut Midline Carcinoma

Diseases related to Nut Midline Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 ewing sarcoma 29.7 SOX2 MYC EP300 BRD4
2 rapidly involuting congenital hemangioma 10.5
3 rare tumor 10.5
4 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
5 neonatal leukemia 10.3 MYC EP300
6 germ cells tumors 10.3
7 venous hemangioma 10.3 SOX2 MYC
8 methylmalonic aciduria, cblb type 10.2 SOX2 MYC
9 disease of mental health 10.2
10 learning disability 10.2
11 arterial thoracic outlet syndrome 10.2
12 lung cancer 10.2
13 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.2
14 thymic carcinoma 10.2
15 extragonadal seminoma 10.1 SOX2 NUTM1 BRD4
16 47,xyy 10.1
17 germ cell and embryonal cancer 10.1 SOX2 MYC
18 small cell carcinoma 10.0
19 adenoid cystic carcinoma 10.0
20 tonsillitis 10.0
21 sarcoma 10.0
22 respiratory failure 10.0
23 acute leukemia 10.0
24 squamous cell papilloma 10.0
25 pleural disease 10.0
26 basal cell carcinoma 10.0
27 larynx cancer 10.0
28 papilloma 10.0
29 inverted papilloma 10.0
30 liver disease 10.0
31 spindle cell sarcoma 10.0
32 seminoma 10.0
33 mucoepidermoid carcinoma 10.0
34 embryoma 10.0
35 mediastinal cancer 10.0
36 extragonadal nonseminomatous germ cell tumor 10.0
37 mediastinal malignant lymphoma 10.0
38 herpes zoster 10.0
39 exophthalmos 10.0
40 48,xyyy 10.0
41 nonseminomatous germ cell tumor 10.0
42 sinonasal undifferentiated carcinoma 10.0
43 paraneoplastic syndromes 10.0
44 posttransplant acute limbic encephalitis 10.0
45 medullomyoblastoma 10.0 SMARCB1 MYC
46 t-cell prolymphocytic leukemia 9.8 SMARCB1 MYC
47 central nervous system cancer 9.8 SOX2 SMARCB1 MYC
48 infratentorial cancer 9.7 SMARCB1 MYC

Graphical network of the top 20 diseases related to Nut Midline Carcinoma:



Diseases related to Nut Midline Carcinoma

Symptoms & Phenotypes for Nut Midline Carcinoma

Human phenotypes related to Nut Midline Carcinoma:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukemia 59 32 frequent (33%) Frequent (79-30%) HP:0001909
2 ewing sarcoma 59 32 frequent (33%) Frequent (79-30%) HP:0012254
3 neuroblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0003006
4 abnormality of the mediastinum 59 32 frequent (33%) Frequent (79-30%) HP:0045026
5 oropharyngeal squamous cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0012182
6 pancreatoblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0100757
7 pancreatic squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012142
8 neoplasm 59 Very frequent (99-80%)
9 squamous cell carcinoma 59 Frequent (79-30%)

GenomeRNAi Phenotypes related to Nut Midline Carcinoma according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.99 CDK9
2 Decreased viability GR00221-A-1 10.99 BRD4 BRDT MYC SMARCB1 BRD2 CDK9
3 Decreased viability GR00221-A-2 10.99 BRDT DCC SMARCB1 BRD2 CDK9 EP300
4 Decreased viability GR00221-A-3 10.99 BRD4 BRDT DCC MYC SMARCB1
5 Decreased viability GR00221-A-4 10.99 BRD4 BRDT DCC BRD2 CDK9 SOX2
6 Decreased viability GR00301-A 10.99 BRD2
7 Decreased viability GR00342-S-3 10.99 BRDT
8 Decreased viability GR00381-A-1 10.99 SMARCB1
9 Decreased viability GR00402-S-2 10.99 BRD4 BRDT DCC MYC SMARCB1 BRD2
10 Decreased substrate adherent cell growth GR00193-A-1 9.85 BRD4
11 Decreased substrate adherent cell growth GR00193-A-2 9.85 BRD2 BRD3 BRD4 CDK9
12 Decreased substrate adherent cell growth GR00193-A-3 9.85 CDK9
13 Increased Nanog expression GR00371-A-2 9.76 BRD4
14 Increased Nanog expression GR00371-A-3 9.76 KMT2C
15 Increased Nanog expression GR00371-A-4 9.76 BRD4 ZNF532
16 Increased Nanog expression GR00371-A-5 9.76 BRD4 CDK9 KMT2C ZNF532
17 Decreased vesicular stomatitis virus (VSV) infection GR00356-A-1 9.5 BRD2 BRD3 BRD4
18 Reduced mammosphere formation GR00396-S 9.43 BRD4 DCC EP300 MYC SMARCB1 SOX2
19 Transferrin accumulation in the perinuclear area GR00356-A-3 8.92 BRD2 BRD3 BRD4 CDK9

MGI Mouse Phenotypes related to Nut Midline Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 BRD2 BRDT DCC EP300 KMT2C MYC
2 neoplasm MP:0002006 9.35 DCC EP300 MYC SMARCB1 SOX2
3 vision/eye MP:0005391 9.1 BRD2 DCC EP300 KMT2C SMARCB1 SOX2

Drugs & Therapeutics for Nut Midline Carcinoma

Drugs for Nut Midline Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
2
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
3
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
4
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
5 INCB054329 Phase 1, Phase 2
6 Anti-Infective Agents Phase 1, Phase 2
7 Immunosuppressive Agents Phase 1, Phase 2
8 Albumin-Bound Paclitaxel Phase 1, Phase 2
9 Poly(ADP-ribose) Polymerase Inhibitors Phase 1, Phase 2
10 Antiviral Agents Phase 1, Phase 2
11 Antimetabolites, Antineoplastic Phase 1, Phase 2
12 Immunologic Factors Phase 1, Phase 2
13 Antimetabolites Phase 1, Phase 2
14 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1/2, Open-Label, Dose-Escalation, Safety and Tolerability Study of INCB054329 in Subjects With Advanced Malignancies Terminated NCT02431260 Phase 1, Phase 2 INCB054329 Monotherapy
2 A Phase 1/2, Open-Label, Dose-Escalation/Dose-Expansion, Safety and Tolerability Study of INCB057643 in Subjects With Advanced Malignancies Terminated NCT02711137 Phase 1, Phase 2 INCB057643;INCB057643;Gemcitabine;Paclitaxel;Rucaparib;Abiraterone;Ruxolitinib;Azacitidine
3 A Phase IB Trial With OTX015/MK-8628, a Small Molecule Inhibitor of the Bromodomain and Extra-Terminal (BET) Proteins, in Patients With Selected Advanced Solid Tumors Completed NCT02259114 Phase 1 MK-8628
4 A Two-Part, Phase I, Multicenter, Open-Label Study of RO6870810/TEN-010 Given Subcutaneously: Part A: A Dose-Escalation Study in Patients With Advanced Solid Tumors. Part B: An Expansion Cohort in Patients With Selected Malignancies Completed NCT01987362 Phase 1 RO6870810
5 An Open Label, Phase Ia/Ib Dose Finding Study With BI 894999 Orally Administered Once a Day in Patients With Advanced Malignancies, With Repeated Administration in Patients With Clinical Benefit Recruiting NCT02516553 Phase 1 BI 894999;BI 894999;BI 894999
6 A Phase I/II Open-Label, Dose Escalation Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics, and Clinical Activity of GSK525762 in Subjects With NUT Midline Carcinoma (NMC) and Other Cancers Active, not recruiting NCT01587703 Phase 1 GSK525762
7 An Open-label, Non-randomized, Multicenter Phase I Dose Escalation Study to Characterize Safety, Tolerability, Pharmacokinetics and Maximum Tolerated Dose of BAY 1238097 in Subjects With Advanced Malignancies Terminated NCT02369029 Phase 1 BAY 1238097
8 A Phase IB Dose Exploration Trial With MK-8628, a Small Molecule Inhibitor of the Bromodomain and Extra-Terminal (BET) Proteins, in Subjects With Selected Advanced Solid Tumors Terminated NCT02698176 Phase 1 MK-8628
9 Compassionate Use Individual Request Program for GSK525762 in NUT Midline Carcinoma Available NCT03702036 molibresib

Search NIH Clinical Center for Nut Midline Carcinoma

Genetic Tests for Nut Midline Carcinoma

Anatomical Context for Nut Midline Carcinoma

MalaCards organs/tissues related to Nut Midline Carcinoma:

41
Testis, Lung, Tonsil

Publications for Nut Midline Carcinoma

Articles related to Nut Midline Carcinoma:

(show top 50) (show all 139)
# Title Authors PMID Year
1
NUT Midline Carcinoma. 38
31331817 2019
2
Tumor Mutation Burden and Checkpoint Immunotherapy Markers in NUT Midline Carcinoma. 38
31180909 2019
3
Midline carcinoma expressing NUT in malignant effusion cytology. 38
30734527 2019
4
NUTM1-rearranged neoplasia: a multi-institution experience yields novel fusion partners and expands the histologic spectrum. 38
30723300 2019
5
A 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature. 38
30853030 2019
6
High-Grade Sinonasal Carcinoma: Classification Through Molecular Profiling. 38
30779592 2019
7
NUT midline carcinoma in the right orbit: a case report. 38
30991882 2019
8
NUT midline carcinoma of the head and neck: current perspectives. 38
31118674 2019
9
NUT Carcinoma: Clinicopathologic features, pathogenesis, and treatment. 38
30362654 2018
10
Phase Ib Trial With Birabresib, a Small-Molecule Inhibitor of Bromodomain and Extraterminal Proteins, in Patients With Selected Advanced Solid Tumors. 38
29733771 2018
11
NUT Midline Carcinoma in the Mediastinum in a Ten-Year-Old Boy. 38
29650254 2018
12
Nut Directs p300-Dependent, Genome-Wide H4 Hyperacetylation in Male Germ Cells. 38
30257209 2018
13
Abrupt Dyskeratotic and Squamoid Cells in Poorly Differentiated Carcinoma: Case Study of Two Thoracic NUT Midline Carcinomas with Cytohistologic Correlation. 38
30056636 2018
14
Genetic modifiers of the BRD4-NUT dependency of NUT midline carcinoma uncovers a synergism between BETis and CDK4/6is. 38
30135075 2018
15
The BET Inhibitor Birabresib Is Safe in Patients with Solid Tumors. 38
29776910 2018
16
NUT midline carcinoma with leukemic presentation mimicking CD34-positive acute leukemia. 38
30049733 2018
17
NUT Midline Carcinoma: A Series of Five Cases, Including One with Unusual Clinical Course. 38
28948459 2018
18
Rediagnosis of Lung Cancer as NUT Midline Carcinoma Based on Clues From Tumor Genomic Profiling. 38
29752320 2018
19
NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors. 38
29356724 2018
20
miR-3140 suppresses tumor cell growth by targeting BRD4 via its coding sequence and downregulates the BRD4-NUT fusion oncoprotein. 38
29540837 2018
21
Patterns 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. 38
29356890 2018
22
[Sinonasal tumors : News from the WHO with special reference to mesenchymal entities]. 38
29396607 2018
23
NUT midline carcinoma causing critical stenosis of the coronary arteries: CT demonstration. 38
28797547 2018
24
Analysis 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. 38
29322795 2018
25
SMARCA4-deficient Sinonasal Carcinoma. 38
28176137 2017
26
NUT carcinoma in children and adults: A multicenter retrospective study. 38
28643357 2017
27
Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-an aggressive and fatal disease. 38
29348827 2017
28
NUT Midline Carcinoma of the Sublingual Gland: Clinical Presentation and Review. 38
28349372 2017
29
NUT Midline Carcinoma of the Lung in a Six-Year-Old Child. 38
29220605 2017
30
NUT midline carcinoma as a primary lung tumor: a case report. 38
29312763 2017
31
Uncommon somatic mutations in metastatic NUT midline carcinoma. 38
28967088 2017
32
NUT Midline Carcinoma of the Nasal Cavity. 38
27757815 2017
33
A 48-Year-Old Male with Cutaneous Metastases of NUT Midline Carcinoma Misdiagnosed as Herpes Zoster. 38
29279703 2017
34
Systematic Kinase Inhibitor Profiling Identifies CDK9 as a Synthetic Lethal Target in NUT Midline Carcinoma. 38
28930680 2017
35
A Case of Nuclear Protein in Testis Midline Carcinoma Arising From the Submandibular Gland Duct in a Pregnant Patient. 38
28282518 2017
36
Nuclear Protein in Testis Midline Carcinoma Presenting in an Infant as a Pericardial Mass with Staging by 18F-Fluorodeoxyglucose-positron Emission Tomography/Computed Tomography. 38
28670187 2017
37
Uncovering BRD4 hyperphosphorylation associated with cellular transformation in NUT midline carcinoma. 38
28630312 2017
38
INI1 (SMARCB1)-Deficient Sinonasal Carcinoma: A Clinicopathologic Report of 2 Cases. 38
27644951 2017
39
Nuclear protein in testis carcinoma of the mediastinum: a case report. 38
28595655 2017
40
Bromodomain Protein BRD4 Is a Transcriptional Repressor of Autophagy and Lysosomal Function. 38
28525743 2017
41
NUT midline carcinoma of the larynx: an international series and review of the literature. 38
27926786 2017
42
Ectopic protein interactions within BRD4-chromatin complexes drive oncogenic megadomain formation in NUT midline carcinoma. 38
28484033 2017
43
Pediatric NUT-midline carcinoma: Therapeutic success employing a sarcoma based multimodal approach. 38
29040054 2017
44
Complex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma. 38
28203693 2017
45
NUT Midline Carcinoma: A Rare Malignancy. 38
28441376 2017
46
Alpha-fetoprotein elevation in NUT midline carcinoma: a case report. 38
28407756 2017
47
Dual HDAC and PI3K Inhibitor CUDC-907 Downregulates MYC and Suppresses Growth of MYC-dependent Cancers. 38
27980108 2017
48
Targeting chromatin defects in selected solid tumors based on oncogene addiction, synthetic lethality and epigenetic antagonism. 38
28426098 2017
49
Cytopathologic and immunophenotypic changes in NUT midline carcinoma after targeted therapy. 38
27863099 2017
50
Deciphering the Role of microRNAs in BRD4-NUT Fusion Gene Induced NUT Midline Carcinoma. 38
28729764 2017

Variations for Nut Midline Carcinoma

Copy number variations for Nut Midline Carcinoma from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 125781 19 15209300 15304342 Translate BRD4 NUT midline carcinoma

Expression for Nut Midline Carcinoma

Search GEO for disease gene expression data for Nut Midline Carcinoma.

Pathways for Nut Midline Carcinoma

GO Terms for Nut Midline Carcinoma

Cellular components related to Nut Midline Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.56 SOX2 SMARCB1 MYC KMT2C EP300 CDK9
2 nucleus GO:0005634 9.4 ZNF532 SOX2 SMARCB1 NUTM1 MYC KMT2C
3 nuclear chromatin GO:0000790 9.33 SMARCB1 MYC CDK9

Biological processes related to Nut Midline Carcinoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 SOX2 MYC EP300 BRD4
2 viral process GO:0016032 9.71 SMARCB1 EP300 BRD4 BRD2
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.5 SOX2 SMARCB1 MYC KMT2C EP300 CDK9
4 transcription by RNA polymerase II GO:0006366 9.48 MYC CDK9
5 regulation of mitotic cell cycle GO:0007346 9.46 MYC CDK9
6 beta-catenin-TCF complex assembly GO:1904837 9.43 MYC EP300
7 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.37 CDK9 BRD4
8 chromatin remodeling GO:0006338 9.33 SMARCB1 MYC BRDT
9 positive regulation by host of viral transcription GO:0043923 9.32 SMARCB1 EP300
10 response to growth factor GO:0070848 9.26 SOX2 MYC
11 chromatin organization GO:0006325 9.17 SOX2 SMARCB1 KMT2C BRDT BRD4 BRD3

Molecular functions related to Nut Midline Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 ZNF532 SOX2 SMARCB1 MYC KMT2C EP300
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.71 SMARCB1 MYC EP300 CDK9
3 transcription coactivator activity GO:0003713 9.56 SMARCB1 KMT2C EP300 BRDT
4 activating transcription factor binding GO:0033613 9.43 MYC EP300
5 chromatin binding GO:0003682 9.35 EP300 CDK9 BRD4 BRD3 BRD2
6 p53 binding GO:0002039 9.33 SMARCB1 EP300 BRD4
7 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.32 CDK9 BRD4
8 lysine-acetylated histone binding GO:0070577 8.92 BRDT BRD4 BRD3 BRD2

Sources for Nut Midline Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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