NMC
MCID: NTM002
MIFTS: 44

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 71
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 49 C45716
ICD10 via Orphanet 33 C80.9
Orphanet 58 ORPHA443167
UMLS 71 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 rapidly involuting congenital hemangioma and internal auditory canal lipoma. An important gene associated with Nut Midline Carcinoma is NUTM1 (NUT Midline Carcinoma Family Member 1), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. The drugs Rucaparib and Gemcitabine have 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 : 74 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 top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 rapidly involuting congenital hemangioma 10.6
2 internal auditory canal lipoma 10.5 SMARCB1 NUTM1
3 laryngeal neuroendocrine tumor 10.5 SMARCB1 NUTM1
4 rare tumor 10.5
5 nodular medulloblastoma 10.4 SMARCB1 MYC
6 kleefstra syndrome 1 10.4 NSD3 KDM4C H2AC18
7 kleefstra syndrome 10.4 KMT2C KDM4C H2AC18
8 colonic benign neoplasm 10.4 MYC KDM4C H2AC18
9 chromosome 16p13.3 deletion syndrome, proximal 10.4 KDM4C H2AC18 EP300
10 luminal breast carcinoma a 10.4 MYC KDM4C H2AC18
11 hypotrichosis 1 10.4 MYC KDM4C H2AC18
12 weaver syndrome 10.4 NSD3 KDM4C H2AC18
13 cardiovascular organ benign neoplasm 10.4 MYC KDM4C H2AC18
14 lymphangioma 10.4 MYC KDM4C H2AC18
15 skeletal muscle cancer 10.4 SMARCB1 MYC H2AC18
16 muscle cancer 10.3 SMARCB1 MYC H2AC18
17 keratinizing squamous cell carcinoma 10.3 SMARCB1 NUTM1
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
19 mature b-cell neoplasm 10.3 MYC KDM4C H2AC18
20 retinitis pigmentosa 11 10.3 MYC KDM4C H2AC18
21 bile duct adenocarcinoma 10.3 MYC KDM4C H2AC18
22 basal cell nevus syndrome 10.3 SMARCB1 MYC KDM4C
23 retinal cancer 10.3 MYC KDM4C H2AC18
24 bone sarcoma 10.3 MYC KDM4C H2AC18
25 germ cell and embryonal cancer 10.3 SOX2 MYC KDM4C H2AC18
26 germ cell cancer 10.3 SOX2 MYC KDM4C H2AC18
27 ocular cancer 10.3 SOX2 MYC KDM4C H2AC18
28 leukocyte disease 10.3 MYC KDM4C H2AC18
29 germ cells tumors 10.3
30 ovary epithelial cancer 10.3 MYC KDM4C H2AC18
31 suppression of tumorigenicity 12 10.3 SOX2 MYC KDM4C H2AC18
32 malignant ovarian surface epithelial-stromal neoplasm 10.3 MYC KDM4C H2AC18
33 renal cell carcinoma, papillary, 1 10.2 SMARCB1 SF3B1 MYC KDM4C
34 bone marrow cancer 10.2 MYC KDM4C H2AC18
35 ewing sarcoma 10.2
36 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.2
37 thymic carcinoma 10.2
38 covid-19 10.2
39 disease of mental health 10.2
40 learning disability 10.2
41 arterial thoracic outlet syndrome 10.2
42 salivary gland carcinoma 10.2 SOX2 H2AC18 BRD3
43 beckwith-wiedemann syndrome 10.2 SMARCB1 NSD3 KDM4C H2AC18
44 cranial nerve neoplasm 10.1 SMARCB1 NUTM1
45 kabuki syndrome 1 10.1 KMT2C KDM4C H2AC18
46 infratentorial cancer 10.1 SOX2 SMARCB1 MYC KDM4C H2AC18
47 central nervous system cancer 10.1 SOX2 SMARCB1 MYC KDM4C H2AC18
48 47,xyy 10.1
49 cornelia de lange syndrome 10.1 SOX2 MYC KDM4C H2AC18 EP300 BRD4
50 rhabdoid cancer 10.1 SMARCB1 MYC KDM4C H2AC18 BRD9

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 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.35 CDK9
2 Decreased viability GR00055-A-2 10.35 CDK9
3 Decreased viability GR00154-A 10.35 CDK9
4 Decreased viability GR00221-A-1 10.35 BRD4 BRDT MYC SMARCB1 BRD2 CDK9
5 Decreased viability GR00221-A-2 10.35 BRDT DCC SMARCB1 BRD2 CDK9 EP300
6 Decreased viability GR00221-A-3 10.35 BRD4 BRDT DCC MYC SMARCB1
7 Decreased viability GR00221-A-4 10.35 BRD4 BRDT DCC BRD2 CDK9 SOX2
8 Decreased viability GR00249-S 10.35 BRD4 BRDT MYC SMARCB1 CDK9
9 Decreased viability GR00301-A 10.35 BRD2
10 Decreased viability GR00381-A-1 10.35 SMARCB1
11 Decreased viability GR00386-A-1 10.35 BRD4
12 Decreased viability GR00402-S-2 10.35 MYC
13 Decreased substrate adherent cell growth GR00193-A-1 9.43 BRD4
14 Decreased substrate adherent cell growth GR00193-A-2 9.43 BRD2 BRD3 BRD4 CDK9
15 Decreased substrate adherent cell growth GR00193-A-3 9.43 CDK9

MGI Mouse Phenotypes related to Nut Midline Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 BRD2 BRD9 CDK9 DCC EP300 HEXIM1
2 neoplasm MP:0002006 9.1 DCC EP300 KDM4C MYC SMARCB1 SOX2

Drugs & Therapeutics for Nut Midline Carcinoma

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

(show all 15)
# 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 Immunologic Factors Phase 1, Phase 2
7 Albumin-Bound Paclitaxel Phase 1, Phase 2
8 Anti-Infective Agents Phase 1, Phase 2
9 Antiviral Agents Phase 1, Phase 2
10 Immunosuppressive Agents Phase 1, Phase 2
11 Tubulin Modulators Phase 1, Phase 2
12 Poly(ADP-ribose) Polymerase Inhibitors Phase 1, Phase 2
13 Antimetabolites Phase 1, Phase 2
14 Antimitotic Agents Phase 1, Phase 2
15 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 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
5 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
6 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
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 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, Tonsil, Myeloid

Publications for Nut Midline Carcinoma

Articles related to Nut Midline Carcinoma:

(show top 50) (show all 156)
# Title Authors PMID Year
1
Therapeutic targeting of p300/CBP HAT domain for the treatment of NUT midline carcinoma. 61
32366905 2020
2
Metastatic NUT Midline Carcinoma Treated With Aggressive Neoadjuvant Chemotherapy, Radiation, and Resection: A Case Report and Review of the Literature. 61
32555032 2020
3
Combined Targeting of the BRD4-NUT-p300 Axis in NUT Midline Carcinoma by Dual Selective Bromodomain Inhibitor, NEO2734. 61
32371576 2020
4
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
5
YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal. 61
32436169 2020
6
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
7
How Much Can We Bet on Activity of BET Inhibitors Beyond NUT-Midline Carcinoma? 61
32328560 2020
8
[Nuclear protein in testis (NUT) midline carcinoma]. 61
31830767 2020
9
Clinical management of emerging sinonasal malignancies. 61
32212360 2020
10
Salivary Gland NUT Carcinoma with Prolonged Survival in Children: Case Illustration and Systematic Review of Literature. 61
32077054 2020
11
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
12
Successful treatment of a case with NUT midline carcinoma in the larynx and review of the literature. 61
31998511 2020
13
HDAC Overexpression in a NUT Midline Carcinoma of the Parotid Gland with Exceptional Survival: A Case Report. 61
31989434 2020
14
Sinonasal NUT midline carcinoma: A new histological entity. 61
32031134 2020
15
[Lung Cancer with Prominent Mediastinal Lymphadenopathy - Who Thinks of NUT Carcinoma?] 61
31918444 2020
16
Clinicopathological Analysis of Five Cases of NUT Midline Carcinoma, including One with the Gingiva. 61
32149149 2020
17
NUT midline carcinoma: Current concepts and future perspectives of a novel tumour entity. 61
31707223 2019
18
NUT Midline Carcinoma. 61
31331817 2019
19
The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report. 61
31492174 2019
20
Midline carcinoma expressing NUT in malignant effusion cytology. 61
30734527 2019
21
NUTM1-rearranged neoplasia: a multi-institution experience yields novel fusion partners and expands the histologic spectrum. 61
30723300 2019
22
Tumor Mutation Burden and Checkpoint Immunotherapy Markers in NUT Midline Carcinoma. 61
31180909 2019
23
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
24
NUT midline carcinoma of the head and neck: current perspectives. 61
31118674 2019
25
NUT midline carcinoma in the right orbit: a case report. 61
30991882 2019
26
NUT Carcinoma: Clinicopathologic features, pathogenesis, and treatment. 61
30362654 2018
27
NUT Midline Carcinoma in the Mediastinum in a Ten-Year-Old Boy. 61
29650254 2018
28
Prevalence, genetic features, and anti-cancer drug sensitivity of NUT midline carcinoma. 61
32177470 2018
29
Phase Ib Trial With Birabresib, a Small-Molecule Inhibitor of Bromodomain and Extraterminal Proteins, in Patients With Selected Advanced Solid Tumors. 61
29733771 2018
30
Nut Directs p300-Dependent, Genome-Wide H4 Hyperacetylation in Male Germ Cells. 61
30257209 2018
31
Genetic modifiers of the BRD4-NUT dependency of NUT midline carcinoma uncovers a synergism between BETis and CDK4/6is. 61
30135075 2018
32
Abrupt Dyskeratotic and Squamoid Cells in Poorly Differentiated Carcinoma: Case Study of Two Thoracic NUT Midline Carcinomas with Cytohistologic Correlation. 61
30056636 2018
33
NUT midline carcinoma with leukemic presentation mimicking CD34-positive acute leukemia. 61
30049733 2018
34
NUT Midline Carcinoma: A Series of Five Cases, Including One with Unusual Clinical Course. 61
28948459 2018
35
Rediagnosis of Lung Cancer as NUT Midline Carcinoma Based on Clues From Tumor Genomic Profiling. 61
29752320 2018
36
NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors. 61
29356724 2018
37
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
38
miR-3140 suppresses tumor cell growth by targeting BRD4 via its coding sequence and downregulates the BRD4-NUT fusion oncoprotein. 61
29540837 2018
39
NUT midline carcinoma causing critical stenosis of the coronary arteries: CT demonstration. 61
28797547 2018
40
[Sinonasal tumors : News from the WHO with special reference to mesenchymal entities]. 61
29396607 2018
41
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
42
SMARCA4-deficient Sinonasal Carcinoma. 61
28176137 2017
43
NUT carcinoma in children and adults: A multicenter retrospective study. 61
28643357 2017
44
NUT Midline Carcinoma of the Sublingual Gland: Clinical Presentation and Review. 61
28349372 2017
45
NUT Midline Carcinoma of the Lung in a Six-Year-Old Child. 61
29220605 2017
46
NUT midline carcinoma as a primary lung tumor: a case report. 61
29312763 2017
47
Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-an aggressive and fatal disease. 61
29348827 2017
48
Uncommon somatic mutations in metastatic NUT midline carcinoma. 61
28967088 2017
49
A 48-Year-Old Male with Cutaneous Metastases of NUT Midline Carcinoma Misdiagnosed as Herpes Zoster. 61
29279703 2017
50
Systematic Kinase Inhibitor Profiling Identifies CDK9 as a Synthetic Lethal Target in NUT Midline Carcinoma. 61
28930680 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

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 nuclear chromatin GO:0000790 9.73 SOX2 SMARCB1 MYC KDM4C H2AC18 CDK9
2 nucleoplasm GO:0005654 9.73 SOX2 SMARCB1 SF3B1 NSD3 MYC KMT2C
3 nucleus GO:0005634 9.58 ZNF532 SOX2 SMARCB1 SF3B1 NUTM1 NSD3
4 chromosome GO:0005694 9.55 NSD3 H2AC18 EP300 CDK9 BRD4

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 SOX2 SMARCB1 MYC KMT2C EP300 CDK9
2 regulation of transcription by RNA polymerase II GO:0006357 9.8 SMARCB1 MYC KDM4C EP300 BRD9 BRD3
3 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.46 CDK9 BRD4
4 positive regulation by host of viral transcription GO:0043923 9.43 SMARCB1 EP300
5 response to growth factor GO:0070848 9.4 SOX2 MYC
6 chromatin organization GO:0006325 9.36 SOX2 SMARCB1 NSD3 KMT2C KDM4C H2AC18
7 negative regulation of histone H3-K9 trimethylation GO:1900113 9.32 SMARCB1 KDM4C
8 chromatin remodeling GO:0006338 9.26 SMARCB1 MYC KDM4C BRDT
9 positive regulation of histone H3-K36 trimethylation GO:2001255 9.16 NSD3 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 SMARCB1 NSD3 KMT2C EP300 BRDT
2 p53 binding GO:0002039 9.43 SMARCB1 EP300 BRD4
3 chromatin binding GO:0003682 9.43 KDM4C EP300 CDK9 BRD4 BRD3 BRD2
4 snRNA binding GO:0017069 9.37 HEXIM1 CDK9
5 7SK snRNA binding GO:0097322 9.32 HEXIM1 CDK9
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....