MCID: NTM002
MIFTS: 44

Nut Midline Carcinoma

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Nut Midline Carcinoma

MalaCards integrated aliases for Nut Midline Carcinoma:

Name: Nut Midline Carcinoma 12 60 15 17 74
Nuclear Protein in Testis Midline Carcinoma 12
Nmc 60

Characteristics:

Orphanet epidemiological data:

60
nut midline carcinoma
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060463
NCIt 51 C45716
ICD10 via Orphanet 35 C80.9
Orphanet 60 ORPHA443167
UMLS 74 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 heparin-induced thrombocytopenia and lung cancer. 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 Azacitidine and Rucaparib have been mentioned in the context of this disorder. Affiliated tissues include testis, tonsil and t cells, and related phenotypes are neuroblastoma and leukemia

Wikipedia : 77 NUT carcinoma (formerly NUT midline carcinoma), is a rare genetically defined, very aggressive squamous... more...

Related Diseases for Nut Midline Carcinoma

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:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neuroblastoma 60 33 frequent (33%) Frequent (79-30%) HP:0003006
2 leukemia 60 33 frequent (33%) Frequent (79-30%) HP:0001909
3 abnormality of the mediastinum 60 33 frequent (33%) Frequent (79-30%) HP:0045026
4 oropharyngeal squamous cell carcinoma 60 33 frequent (33%) Frequent (79-30%) HP:0012182
5 pancreatoblastoma 60 33 frequent (33%) Frequent (79-30%) HP:0100757
6 ewing sarcoma 33 frequent (33%) HP:0012254
7 pancreatic squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012142
8 neoplasm 60 Very frequent (99-80%)
9 squamous cell carcinoma 60 Frequent (79-30%)
10 ewing's sarcoma 60 Frequent (79-30%)

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.55 BRDT SMARCB1 BRD4 MYC SOX2
2 Decreased viability GR00221-A-2 10.55 BRDT DCC EP300 SMARCB1
3 Decreased viability GR00221-A-3 10.55 BRDT DCC SMARCB1 BRD4 MYC
4 Decreased viability GR00221-A-4 10.55 BRDT DCC BRD4 SOX2 BRD3
5 Decreased viability GR00342-S-3 10.55 BRDT
6 Decreased viability GR00381-A-1 10.55 SMARCB1
7 Decreased viability GR00402-S-2 10.55 BRDT DCC EP300 SMARCB1 BRD4 MYC
8 Reduced mammosphere formation GR00396-S 9.1 BRD4 DCC EP300 MYC SMARCB1 SOX2

MGI Mouse Phenotypes related to Nut Midline Carcinoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.02 DCC EP300 MYC 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
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
2
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
3
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
4
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
5 INCB054329 Phase 1, Phase 2
6 Anti-Infective Agents Phase 1, Phase 2
7 Immunosuppressive Agents Phase 1, Phase 2
8 Immunologic Factors Phase 1, Phase 2
9 Antimetabolites Phase 1, Phase 2
10 Albumin-Bound Paclitaxel Phase 1, Phase 2
11 Antimetabolites, Antineoplastic Phase 1, Phase 2
12 Poly(ADP-ribose) Polymerase Inhibitors Phase 1, Phase 2
13 Antiviral Agents Phase 1, Phase 2
14 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label, Dose-Escalation Study of INCB054329 in Patients With Advanced Malignancies Completed NCT02431260 Phase 1, Phase 2 INCB054329 Monotherapy
2 Open-Label Safety and Tolerability Study of INCB057643 in Subjects With Advanced Malignancies Active, not recruiting NCT02711137 Phase 1, Phase 2 INCB057643;INCB057643;Gemcitabine;Paclitaxel;Rucaparib;Abiraterone;Ruxolitinib;Azacitidine
3 A Dose-Finding Study of MK-8628, a Small Molecule Inhibitor of the Bromodomain and Extra-Terminal (BET) Proteins, in Adults With Selected Advanced Solid Tumors (MK-8628-003) Completed NCT02259114 Phase 1 MK-8628
4 BI 894999 First in Human Dose Finding Study in Advanced Malignancies Recruiting NCT02516553 Phase 1 BI 894999;BI 894999;BI 894999
5 A 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
6 Open Label, Multi-center Study to Assess the Safety, Tolerability and Pharmacokinetics of CUDC-907 in Subjects With Advanced/Relapsed Solid Tumors Active, not recruiting NCT02307240 Phase 1 CUDC-907
7 A Dose Exploration Study With MK-8628 in Participants With Selected Advanced Solid Tumors (MK-8628-006) Terminated NCT02698176 Phase 1 MK-8628
8 BAY1238097, First in Man Terminated NCT02369029 Phase 1 BAY 1238097
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:

42
Testis, Tonsil, T Cells, Lung

Publications for Nut Midline Carcinoma

Articles related to Nut Midline Carcinoma:

(show top 50) (show all 86)
# Title Authors Year
1
NUT midline carcinoma in the right orbit: a case report. ( 30991882 )
2019
2
NUT midline carcinoma with leukemic presentation mimicking CD34-positive acute leukemia. ( 30049733 )
2018
3
NUT midline carcinoma causing critical stenosis of the coronary arteries: CT demonstration. ( 28797547 )
2018
4
NUT Midline Carcinoma: A Series of Five Cases, Including One with Unusual Clinical Course. ( 28948459 )
2018
5
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. ( 29356890 )
2018
6
NUT Midline Carcinoma in the Mediastinum in a Ten-Year-Old Boy. ( 29650254 )
2018
7
Rediagnosis of Lung Cancer as NUT Midline Carcinoma Based on Clues From Tumor Genomic Profiling. ( 29752320 )
2018
8
Genetic modifiers of the BRD4-NUT dependency of NUT midline carcinoma uncovers a synergism between BETis and CDK4/6is. ( 30135075 )
2018
9
A 48-Year-Old Male with Cutaneous Metastases of NUT Midline Carcinoma Misdiagnosed as Herpes Zoster. ( 29279703 )
2017
10
NUT Midline Carcinoma of the Nasal Cavity. ( 27757815 )
2017
11
Cytopathologic and immunophenotypic changes in NUT midline carcinoma after targeted therapy. ( 27863099 )
2017
12
NUT midline carcinoma of the larynx: an international series and review of the literature. ( 27926786 )
2017
13
Complex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma. ( 28203693 )
2017
14
NUT Midline Carcinoma of the Sublingual Gland: Clinical Presentation and Review. ( 28349372 )
2017
15
Alpha-fetoprotein elevation in NUT midline carcinoma: a case report. ( 28407756 )
2017
16
NUT Midline Carcinoma: A Rare Malignancy. ( 28441376 )
2017
17
Ectopic protein interactions within BRD4-chromatin complexes drive oncogenic megadomain formation in NUT midline carcinoma. ( 28484033 )
2017
18
Uncovering BRD4 hyperphosphorylation associated with cellular transformation in NUT midline carcinoma. ( 28630312 )
2017
19
Deciphering the Role of microRNAs in BRD4-NUT Fusion Gene Induced NUT Midline Carcinoma. ( 28729764 )
2017
20
Systematic Kinase Inhibitor Profiling Identifies CDK9 as a Synthetic Lethal Target in NUT Midline Carcinoma. ( 28930680 )
2017
21
Uncommon somatic mutations in metastatic NUT midline carcinoma. ( 28967088 )
2017
22
Pediatric NUT-midline carcinoma: Therapeutic success employing a sarcoma based multimodal approach. ( 29040054 )
2017
23
NUT Midline Carcinoma of the Lung in a Six-Year-Old Child. ( 29220605 )
2017
24
NUT midline carcinoma as a primary lung tumor: a case report. ( 29312763 )
2017
25
Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-an aggressive and fatal disease. ( 29348827 )
2017
26
Intrapericardial NUT Midline Carcinoma: Unusual Presentation of a Rare Tumor and Literature Review with Management Considerations. ( 26667959 )
2016
27
NUT midline carcinoma of the lung, a rare form of lung cancer. ( 27263824 )
2016
28
Cytological features of NUT midline carcinoma arising in sino-nasal tract and parotid gland: Report of two new cases and review of the literature. ( 27338676 )
2016
29
Cytopathologic features of NUT midline carcinoma: A series of 26 specimens from 13 patients. ( 27400194 )
2016
30
Intensive treatment and survival outcomes in NUT midline carcinoma of the head and neck. ( 27509377 )
2016
31
Nuclear protein in testis (NUT) midline carcinoma with a novel three-way translocation (4;15;19)(q13;q14;p13.1). ( 27590195 )
2016
32
NUT midline carcinoma mimicking a germ cell tumor: a case report. ( 27855672 )
2016
33
NUT Midline Carcinoma Masquerading As a Thymic Carcinoma. ( 24733790 )
2016
34
The Gross Appearance of a NUT Midline Carcinoma. ( 26378054 )
2016
35
Orbital Involvement by NUT Midline Carcinoma. ( 24892275 )
2015
36
Staging and evaluation of neoadjuvant chemotherapy response with ¹⁸F-FDG PET/CT in NUT-midline carcinoma in a child: a case report and review of the literature. ( 25304847 )
2015
37
NUT midline carcinoma of the mediastinum showing two types of poorly differentiated tumor cells: a case report and a literature review. ( 25433996 )
2015
38
Retrospective analysis of nuclear protein in testis (NUT) midline carcinoma in the upper aerodigestive tract and mediastinum. ( 25434692 )
2015
39
Histone deacetylase inhibitor for NUT midline carcinoma. ( 25557064 )
2015
40
NUT midline carcinoma presenting with bilateral ovarian metastases: a case report. ( 25675182 )
2015
41
Cytological Features of a Variant NUT Midline Carcinoma of the Lung Harboring the NSD3-NUT Fusion Gene: A Case Report and Literature Review. ( 25685583 )
2015
42
A case of endobronchial NUT midline carcinoma with intraluminal growth. ( 25750317 )
2015
43
NUT Midline Carcinoma in Elderly Patients: Usefulness of 18F-FDG PET/CT for Treatment Assessment. ( 25899594 )
2015
44
Primary Pulmonary NUT Midline Carcinoma: Clinical, Radiographic, and Pathologic Characterizations. ( 26001144 )
2015
45
Cytologic findings of NUT midline carcinoma in the hilum of the lung. ( 26138851 )
2015
46
Impressive Response to Dose-Dense Chemotherapy in a Patient with NUT Midline Carcinoma. ( 26140332 )
2015
47
Sinonasal NUT-Midline Carcinoma - A Multimodality Approach to Diagnosis, Staging and Post-Surgical Restaging. ( 26244120 )
2015
48
A novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinoma. ( 26551281 )
2015
49
NUT Midline Carcinoma: Morphoproteomic Characterization with Genomic and Therapeutic Correlates. ( 26663801 )
2015
50
MYC, a downstream target of BRD-NUT, is necessary and sufficient for the blockade of differentiation in NUT midline carcinoma. ( 23604113 )
2014

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

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

# Super pathways Score Top Affiliating Genes
1 11.43 BRD4 BRDT EP300 NUTM1 SMARCB1
2 10.95 EP300 KMT2C MYC
3 10.94 EP300 MYC
4 10.72 EP300 MYC

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 nucleus GO:0005634 9.36 BRD3 BRD4 BRDT EP300 KLLN KMT2C

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, DNA-templated GO:0045893 9.73 BRD4 EP300 MYC SOX2
2 cell cycle arrest GO:0007050 9.54 KLLN MYC SOX2
3 cellular response to UV GO:0034644 9.46 EP300 MYC
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 BRD4 EP300 KMT2C MYC SMARCB1 SOX2
5 beta-catenin-TCF complex assembly GO:1904837 9.4 EP300 MYC
6 chromatin remodeling GO:0006338 9.33 BRDT MYC SMARCB1
7 positive regulation by host of viral transcription GO:0043923 9.32 EP300 SMARCB1
8 response to growth factor GO:0070848 9.26 MYC SOX2
9 chromatin organization GO:0006325 9.1 BRD3 BRD4 BRDT KMT2C SMARCB1 SOX2

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 9.8 EP300 KLLN KMT2C MYC SMARCB1 SOX2
2 transcription coactivator activity GO:0003713 9.46 BRDT EP300 KMT2C SMARCB1
3 activating transcription factor binding GO:0033613 9.32 EP300 MYC
4 p53 binding GO:0002039 9.13 BRD4 EP300 SMARCB1
5 lysine-acetylated histone binding GO:0070577 8.8 BRD3 BRD4 BRDT

Sources for Nut Midline Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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