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 58 15 17 70
Nuclear Protein in Testis Midline Carcinoma 12
Nmc 58

Characteristics:

Orphanet epidemiological data:

58
nut midline carcinoma
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060463
NCIt 50 C45716
ICD10 via Orphanet 33 C80.9
Orphanet 58 ORPHA443167
UMLS 70 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 rare tumor and lymphoepithelioma-like thymic carcinoma. An important gene associated with Nut Midline Carcinoma is NUTM1 (NUT Midline Carcinoma Family Member 1), and among its related pathways/superpathways are Signaling by Wnt and Chromatin organization. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include testis, lung and salivary gland, and related phenotypes are leukemia and ewing sarcoma

Wikipedia : 73 NUT carcinoma (NC) (formerly NUT midline carcinoma), is a rare genetically defined, very aggressive... more...

Related Diseases for Nut Midline Carcinoma

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 rare tumor 10.5
2 lymphoepithelioma-like thymic carcinoma 10.4 NUTM1 BRD4
3 menke-hennekam syndrome 10.4 EP300 CREBBP
4 thumb deformity 10.4 EP300 CREBBP
5 epilepsy, idiopathic generalized 15 10.4 SOX2 MYC
6 rubinstein-taybi syndrome 1 10.4 EP300 CREBBP
7 rapidly involuting congenital hemangioma 10.3
8 human t-cell leukemia virus type 2 10.3 EP300 CREBBP
9 otopalatodigital syndrome, type i 10.3 H2AC18 EP300 CREBBP
10 leukemia, acute monocytic 10.3 H2AC18 EP300 CREBBP
11 kleefstra syndrome 10.3 KMT2C KDM4C H2AC18
12 colonic benign neoplasm 10.3 MYC KDM4C H2AC18
13 weaver syndrome 10.3 NSD3 KDM4C H2AC18
14 mature t-cell and nk-cell lymphoma 10.3 MYC KDM4C H2AC18
15 lymphangioma 10.3 MYC KDM4C H2AC18
16 hypotrichosis 1 10.3 MYC KDM4C H2AC18
17 mature b-cell neoplasm 10.3 MYC KDM4C H2AC18
18 charge syndrome 10.3 SOX2 H2AC18 EP300
19 germ cells tumors 10.3
20 suppression of tumorigenicity 12 10.3 MYC KDM4C H2AC18
21 retinitis pigmentosa 11 10.3 MYC KDM4C H2AC18
22 pelizaeus-merzbacher disease 10.3 SOX2 MYC H2AC18
23 bile duct adenocarcinoma 10.3 MYC KDM4C H2AC18
24 kleefstra syndrome 1 10.2 NSD3 KMT2C KDM4C H2AC18
25 retinal cancer 10.2 MYC KDM4C H2AC18
26 chromosome 16p13.3 deletion syndrome, proximal 10.2 KDM4C H2AC18 EP300 CREBBP
27 germ cell and embryonal cancer 10.2 SOX2 MYC KDM4C H2AC18
28 infratentorial cancer 10.2 SOX2 MYC KDM4C H2AC18
29 chromosomal deletion syndrome 10.2 KDM4C H2AC18 EP300 CREBBP
30 germ cell cancer 10.2 SOX2 MYC KDM4C H2AC18
31 ocular cancer 10.2 SOX2 MYC KDM4C H2AC18
32 chromosomal disease 10.2 KDM4C H2AC18 EP300 CREBBP
33 central nervous system cancer 10.2 SOX2 MYC KDM4C H2AC18
34 bone sarcoma 10.2 MYC KDM4C H2AC18
35 malignant astrocytoma 10.2 SOX2 MYC KDM4C H2AC18
36 leukocyte disease 10.2 MYC KDM4C H2AC18
37 rhabdoid cancer 10.2 MYC KDM4C H2AC18 BRD9
38 lung cancer 10.2
39 ewing sarcoma 10.2
40 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.2
41 malignant ovarian surface epithelial-stromal neoplasm 10.2 MYC KDM4C H2AC18
42 autosomal dominant non-syndromic intellectual disability 10.2 MYC H2AC18 EP300 CREBBP BRDT
43 amelogenesis imperfecta, type ig 10.1 MYC H2AC18 EP300
44 ovary epithelial cancer 10.1 MYC KDM4C H2AC18
45 skin melanoma 10.1 SF3B1 MYC KDM4C H2AC18 CREBBP
46 lynch syndrome 10.1 KDM4C H2AC18 EP300 DCC
47 brain cancer 10.1 SOX2 MYC KDM4C H2AC18
48 leukemia, acute lymphoblastic 10.1 MYC KDM4C H2AC18 EP300 CREBBP
49 salivary gland carcinoma 10.1 SOX2 H2AC18 BRD3
50 myeloma, multiple 10.1 MYC KMT2C KDM4C H2AC18 CREBBP BRD4

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:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukemia 58 31 frequent (33%) Frequent (79-30%) HP:0001909
2 ewing sarcoma 58 31 frequent (33%) Frequent (79-30%) HP:0012254
3 neuroblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0003006
4 abnormality of the mediastinum 58 31 frequent (33%) Frequent (79-30%) HP:0045026
5 oropharyngeal squamous cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0012182
6 pancreatoblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0100757
7 pancreatic squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012142
8 neoplasm 58 Very frequent (99-80%)
9 squamous cell carcinoma 58 Frequent (79-30%)

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.19 CDK9
2 Decreased viability GR00055-A-2 10.19 CDK9
3 Decreased viability GR00154-A 10.19 CDK9
4 Decreased viability GR00221-A-1 10.19 BRD2 BRDT CDK9 BRD4 MYC SOX2
5 Decreased viability GR00221-A-2 10.19 BRD2 BRDT CDK9 DCC EP300
6 Decreased viability GR00221-A-3 10.19 BRDT DCC BRD4 MYC
7 Decreased viability GR00221-A-4 10.19 BRD2 BRDT CDK9 DCC BRD4 SOX2
8 Decreased viability GR00249-S 10.19 BRDT CDK9 BRD4 MYC
9 Decreased viability GR00301-A 10.19 BRD2
10 Decreased viability GR00386-A-1 10.19 BRD4
11 Decreased viability GR00402-S-2 10.19 MYC
12 Decreased substrate adherent cell growth GR00193-A-1 9.43 BRD4
13 Decreased substrate adherent cell growth GR00193-A-2 9.43 BRD2 BRD3 BRD4 CDK9
14 Decreased substrate adherent cell growth GR00193-A-3 9.43 CDK9

MGI Mouse Phenotypes related to Nut Midline Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 BRD2 BRD9 CREBBP EP300 MYC NSD3
2 mortality/aging MP:0010768 9.44 BRD2 BRD9 CDK9 CREBBP DCC EP300

Drugs & Therapeutics for Nut Midline Carcinoma

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Birabresib
2 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 Completed NCT01587703 Phase 1 GSK525762
3 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 Birabresib
4 Compassionate Use Individual Request Program for GSK525762 in NUT Midline Carcinoma No longer 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:

40
Testis, Lung, Salivary Gland, Myeloid

Publications for Nut Midline Carcinoma

Articles related to Nut Midline Carcinoma:

(show top 50) (show all 163)
# Title Authors PMID Year
1
Salivary Gland NUT Carcinoma with Prolonged Survival in Children: Case Illustration and Systematic Review of Literature. 61
32077054 2021
2
NUT Midline Carcinoma of the Lung: Computed Tomography Findings in 10 Patients. 61
33661151 2021
3
Update on genetically defined lung neoplasms: NUT carcinoma and thoracic SMARCA4-deficient undifferentiated tumors. 61
33409598 2021
4
Metastatic NUT Midline Carcinoma Treated With Aggressive Neoadjuvant Chemotherapy, Radiation, and Resection: A Case Report and Review of the Literature. 61
32555032 2021
5
[A Case Report of Primary Pulmonary NUT Carcinoma and Literature Review]. 61
33478193 2021
6
YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal. 61
32436169 2020
7
HDAC Overexpression in a NUT Midline Carcinoma of the Parotid Gland with Exceptional Survival: A Case Report. 61
31989434 2020
8
NUT midline carcinoma in a young pregnant female: a case report. 61
33160369 2020
9
Imaging spectrum of NUT carcinomas. 61
32866821 2020
10
Tumor Mutation Burden and Checkpoint Immunotherapy Markers in NUT Midline Carcinoma. 61
31180909 2020
11
Clinical management of emerging sinonasal malignancies. 61
32212360 2020
12
Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma. 61
32650830 2020
13
Combined Targeting of the BRD4-NUT-p300 Axis in NUT Midline Carcinoma by Dual Selective Bromodomain Inhibitor, NEO2734. 61
32371576 2020
14
A 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. 61
32451710 2020
15
NUT midline carcinomas and their differentials by a single molecular profiling method: a new promising diagnostic strategy illustrated by a case report. 61
32588132 2020
16
Therapeutic targeting of p300/CBP HAT domain for the treatment of NUT midline carcinoma. 61
32366905 2020
17
How Much Can We Bet on Activity of BET Inhibitors Beyond NUT-Midline Carcinoma? 61
32328560 2020
18
An Anatomical Site and Genetic-Based Prognostic Model for Patients With Nuclear Protein in Testis (NUT) Midline Carcinoma: Analysis of 124 Patients. 61
32328562 2020
19
[Nuclear protein in testis (NUT) midline carcinoma]. 61
31830767 2020
20
Orbital involvement by NUT midline carcinoma: new presentation and encouraging outcome managed by radiotherapy combined with tyrosine kinase inhibitor: a case report. 61
31900183 2020
21
Sinonasal NUT midline carcinoma: A new histological entity. 61
32031134 2020
22
[Lung Cancer with Prominent Mediastinal Lymphadenopathy - Who Thinks of NUT Carcinoma?] 61
31918444 2020
23
Clinicopathological Analysis of Five Cases of NUT Midline Carcinoma, including One with the Gingiva. 61
32149149 2020
24
The primary pulmonary NUT carcinomas and some uncommon somatic mutations identified by next-generation sequencing: a case report. 61
33178996 2020
25
Successful treatment of a case with NUT midline carcinoma in the larynx and review of the literature. 61
31998511 2020
26
NUT midline carcinoma: Current concepts and future perspectives of a novel tumour entity. 61
31707223 2019
27
NUT Midline Carcinoma. 61
31331817 2019
28
The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report. 61
31492174 2019
29
NUTM1-rearranged neoplasia: a multi-institution experience yields novel fusion partners and expands the histologic spectrum. 61
30723300 2019
30
Midline carcinoma expressing NUT in malignant effusion cytology. 61
30734527 2019
31
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. 61
30853030 2019
32
NUT midline carcinoma in the right orbit: a case report. 61
30991882 2019
33
NUT midline carcinoma of the head and neck: current perspectives. 61
31118674 2019
34
NUT Carcinoma: Clinicopathologic features, pathogenesis, and treatment. 61
30362654 2018
35
Phase Ib Trial With Birabresib, a Small-Molecule Inhibitor of Bromodomain and Extraterminal Proteins, in Patients With Selected Advanced Solid Tumors. 61
29733771 2018
36
NUT Midline Carcinoma in the Mediastinum in a Ten-Year-Old Boy. 61
29650254 2018
37
Nut Directs p300-Dependent, Genome-Wide H4 Hyperacetylation in Male Germ Cells. 61
30257209 2018
38
Genetic modifiers of the BRD4-NUT dependency of NUT midline carcinoma uncovers a synergism between BETis and CDK4/6is. 61
30135075 2018
39
Abrupt Dyskeratotic and Squamoid Cells in Poorly Differentiated Carcinoma: Case Study of Two Thoracic NUT Midline Carcinomas with Cytohistologic Correlation. 61
30056636 2018
40
NUT midline carcinoma with leukemic presentation mimicking CD34-positive acute leukemia. 61
30049733 2018
41
NUT Midline Carcinoma: A Series of Five Cases, Including One with Unusual Clinical Course. 61
28948459 2018
42
NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors. 61
29356724 2018
43
Rediagnosis of Lung Cancer as NUT Midline Carcinoma Based on Clues From Tumor Genomic Profiling. 61
29752320 2018
44
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. 61
29356890 2018
45
miR-3140 suppresses tumor cell growth by targeting BRD4 via its coding sequence and downregulates the BRD4-NUT fusion oncoprotein. 61
29540837 2018
46
NUT midline carcinoma causing critical stenosis of the coronary arteries: CT demonstration. 61
28797547 2018
47
[Sinonasal tumors : News from the WHO with special reference to mesenchymal entities]. 61
29396607 2018
48
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. 61
29322795 2018
49
SMARCA4-deficient Sinonasal Carcinoma. 61
28176137 2017
50
NUT Midline Carcinoma of the Lung in a Six-Year-Old Child. 61
29220605 2017

Variations for Nut Midline Carcinoma

Copy number variations for Nut Midline Carcinoma from CNVD:

7
# CNVD ID Chromosome 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

Pathways related to Nut Midline Carcinoma according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 SOX2 MYC H2AC18 EP300 CREBBP
2
Show member pathways
12.69 NSD3 KMT2C KDM4C H2AC18 EP300 CREBBP
3
Show member pathways
11.87 SOX2 MYC EP300 CREBBP
4 11.67 MYC EP300 CREBBP
5
Show member pathways
11.65 MYC EP300 CREBBP
6 11.58 MYC EP300 CREBBP
7 11.57 NUTM1 HEXIM1 EP300 CREBBP BRDT BRD4
8 11.55 MYC EP300 CREBBP
9 11.52 MYC EP300 CREBBP
10 11.47 MYC EP300 CREBBP
11 11.33 EP300 CREBBP BRD2
12 11.28 MYC KMT2C EP300 CREBBP
13 11 MYC EP300 CREBBP
14 10.82 HEXIM1 EP300 CREBBP CDK9

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 9.77 SOX2 SF3B1 NSD3 MYC KMT2C KDM4C
2 nucleus GO:0005634 9.58 ZNF532 SOX2 SF3B1 NUTM1 NSD3 MYC

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.02 SOX2 NSD3 MYC KMT2C EP300 CREBBP
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 SOX2 MYC KMT2C EP300 CREBBP CDK9
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 SOX2 NSD3 MYC EP300 CREBBP BRD4
4 Notch signaling pathway GO:0007219 9.69 MYC EP300 CREBBP
5 cellular response to UV GO:0034644 9.54 MYC EP300 CREBBP
6 response to growth factor GO:0070848 9.49 SOX2 MYC
7 protein acetylation GO:0006473 9.46 EP300 CREBBP
8 beta-catenin-TCF complex assembly GO:1904837 9.33 MYC EP300 CREBBP
9 positive regulation of histone H3-K36 trimethylation GO:2001255 9.32 NSD3 BRD4
10 chromatin organization GO:0006325 9.28 SOX2 NSD3 KMT2C KDM4C BRDT BRD9
11 N-terminal peptidyl-lysine acetylation GO:0018076 9.26 EP300 CREBBP
12 chromatin remodeling GO:0006338 9.26 MYC KDM4C BRDT BRD4

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.55 KMT2C EP300 CREBBP BRDT BRD4
2 p53 binding GO:0002039 9.54 EP300 CREBBP BRD4
3 chromatin binding GO:0003682 9.5 KDM4C EP300 CREBBP CDK9 BRD4 BRD3
4 snRNA binding GO:0017069 9.46 HEXIM1 CDK9
5 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.43 CDK9 BRD4
6 7SK snRNA binding GO:0097322 9.4 HEXIM1 CDK9
7 peptide-lysine-N-acetyltransferase activity GO:0061733 9.32 EP300 CREBBP
8 P-TEFb complex binding GO:0106140 9.26 HEXIM1 BRD4
9 lysine-acetylated histone binding GO:0070577 9.02 BRDT BRD9 BRD4 BRD3 BRD2

Sources for Nut Midline Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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