MCC
MCID: MRK001
MIFTS: 64

Merkel Cell Carcinoma (MCC)

Categories: Cancer diseases, Endocrine diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Merkel Cell Carcinoma

MalaCards integrated aliases for Merkel Cell Carcinoma:

Name: Merkel Cell Carcinoma 12 20 58 36 15 71
Trabecular Adenocarcinoma 12 6 71
Cutaneous Neuroendocrine Carcinoma 20 58
Carcinoma, Merkel Cell 20
Carcinoma Merkel Cell 54
Trabecular Carcinoma 12
Merkel Cell Cancer 20
Merkle Tumors 20
Mcc 58

Characteristics:

Orphanet epidemiological data:

58
cutaneous neuroendocrine carcinoma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (Australia); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:3965
KEGG 36 H01555
NCIt 50 C4068
SNOMED-CT 67 29792007
ICD10 via Orphanet 33 C44.3 C44.6 C44.7
UMLS via Orphanet 72 C0007129
Orphanet 58 ORPHA79140
UMLS 71 C0007129 C0302182

Summaries for Merkel Cell Carcinoma

KEGG : 36 Merkel cell carcinoma (MCC) is a cutaneous neuroendocrine malignancy that exhibits clinically aggressive features and is associated with a poor prognosis. Ultraviolet (UV) radiation may be a cause, and corresponds with the sites of these tumours, often on sun-exposed skin, mostly (94%) in the White population. UV light may exert local immunomodulating action as it decreases amount of epidermal T cells and Langerhans cells, inducing hapten tolerance. Additionally, UV- specific mutations in TP53 and Harvey (Ha)-RAS genes are present in some MCC cell lines. Recently, the polyomavirus group has been linked with MCC. The MCC polyomavirus (MCPyV) has been isolated from MCC tissue and thought to be present in up to 80% of MCC. Tumorigenesis likely is caused by a number of sequential steps from viral integration into host DNA, mutagenic events, and specific immune responses.

MalaCards based summary : Merkel Cell Carcinoma, also known as trabecular adenocarcinoma, is related to skin benign neoplasm and eyelid carcinoma. An important gene associated with Merkel Cell Carcinoma is KRT20 (Keratin 20), and among its related pathways/superpathways are Neuroscience and NF-kappaB Signaling. The drugs Pharmaceutical Solutions and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and t cells, and related phenotypes are merkel cell skin cancer and cellular immunodeficiency

GARD : 20 Merkel cell carcinoma (MCC) is a rare, aggressive skin cancer. It usually develops as a single, painless, bump on sun-exposed skin. The bump may be skin-colored or red-violet, and tends to grow rapidly over weeks to months. It may spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Factors associated with developing MCC include increasing age, fair skin, a history of extensive sun exposure, chronic immune suppression, and the Merkel cell polyomavirus. This virus has been detected in about 80% of people with MCC. Treatment may include surgery, radiation therapy, and/or chemotherapy. Treatment options and prognosis depend on the location(s) and size of the cancer, whether it has just been diagnosed or has come back (recurred), and how deeply it has grown into the skin.

Wikipedia : 74 Merkel cell carcinoma (MCC) is a rare and aggressive skin cancer occurring in about 3 people per... more...

Related Diseases for Merkel Cell Carcinoma

Diseases related to Merkel Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 754)
# Related Disease Score Top Affiliating Genes
1 skin benign neoplasm 31.9 KRT7 KRT20 ENO2
2 eyelid carcinoma 31.8 KRT7 KRT20
3 neuroendocrine tumor 31.3 SYP SST NKX2-1 NCAM1 KRT20 ENO2
4 meibomian cyst 31.3 SYP KRT7 KRT20
5 spindle cell sarcoma 31.1 MUC1 KRT7 KIT
6 in situ carcinoma 31.0 TP53 MUC1 KRT8
7 neuroendocrine carcinoma 30.8 SYP SST PTPRC PAX5 NKX2-1 NCAM1
8 cll/sll 30.8 TP53 PDCD1 PAX5
9 exanthem 30.7 PDCD1 KIT CD274
10 carcinoid syndrome 30.6 SYP SST ENO2 CHGA
11 dermatofibrosarcoma protuberans 30.6 TP53 KIT ENO2
12 adenocarcinoma 30.6 TP53 NKX2-1 MUC1 KRT7 KIT KDR
13 ovarian small cell carcinoma 30.6 SYP MUC1 ENO2
14 paget disease, extramammary 30.5 MUC1 KRT7 KRT20
15 malignant syringoma 30.5 KRT7 KRT20
16 eyelid benign neoplasm 30.5 KRT20 CHGA
17 neurilemmoma 30.5 MUC1 KIT ENO2
18 neurofibroma 30.5 TP53 SYP MUC1 KIT
19 skin melanoma 30.4 TP53 PDCD1 KIT CD274
20 keratinizing squamous cell carcinoma 30.4 TP53 SYP NKX2-1 KRT7
21 dendritic cell tumor 30.4 PTPRC MUC1 KRT20
22 sweat gland cancer 30.4 TP53 SYP KRT8 KRT7 KRT20
23 carcinosarcoma 30.4 TP53 MUC1 KRT7 KIT
24 mucosal melanoma 30.4 KIT KDR CD274
25 sarcomatoid carcinoma 30.4 SYP NKX2-1 MUC1 KRT7 KRT20 KIT
26 skin carcinoma 30.3 TP53 SYP PTPRC PDCD1 NKX2-1 NCAM1
27 mammary paget's disease 30.3 MUC1 KRT8 KRT7 KRT20
28 small cell carcinoma 30.3 TP53 SYP PTPRC NKX2-1 NCAM1 MUC1
29 diffuse large b-cell lymphoma 30.3 TP53 PTPRC PDCD1 PAX5 CD274
30 hemangioma 30.2 TP53 SYP NKX2-1 KRT7 KIT KDR
31 somatostatinoma 30.2 SST ENO2 CHGA
32 myeloma, multiple 30.2 TP53 PTPRC NKX2-1 NCAM1 KIT CD274
33 desmoplastic small round cell tumor 30.2 SYP PTPRC MUC1 ENO2 CHGA
34 basal cell carcinoma 30.2 TP53 SYP PDCD1 NCAM1 MUC1 KRT8
35 pleomorphic adenoma 30.2 TP53 MUC1 KRT7
36 lung benign neoplasm 30.2 TP53 SYP NKX2-1 NCAM1 KRT7 KRT20
37 thyroid carcinoma, familial medullary 30.2 SST NKX2-1 CHGA
38 ewing sarcoma 30.1 TP53 SYP PTPRC NCAM1 KIT KDR
39 lung disease 30.1 TP53 PDCD1 NKX2-1 MUC1 ENO2 CD274
40 papillary carcinoma 30.1 SYP NKX2-1 MUC1 KRT7 KRT20 CHGA
41 lung cancer susceptibility 3 30.1 TP53 NKX2-1 MUC1 KRT7 KRT20 KDR
42 large cell neuroendocrine carcinoma 30.1 SYP NKX2-1 NCAM1 KRT7 KRT20 KIT
43 sarcoma, synovial 30.0 MUC1 KRT8 KRT7 KIT
44 lymphoma 30.0 TP53 PTPRC PDCD1 PAX5 KIT HAVCR2
45 thyroid gland medullary carcinoma 30.0 SYP SST NKX2-1 KDR CHGA
46 meningioma, familial 29.9 TP53 SYP SST NCAM1 MUC1
47 angiosarcoma 29.9 TP53 MUC1 KRT8 KRT7 KIT KDR
48 wilms tumor 1 29.9 TP53 PTPRC NKX2-1 NCAM1 MUC1 KRT7
49 neuroblastoma 29.9 TP53 SYP SST NCAM1 MAP2 KIT
50 adenoma 29.8 TP53 SYP SST MUC1 KRT7 KRT20

Graphical network of the top 20 diseases related to Merkel Cell Carcinoma:



Diseases related to Merkel Cell Carcinoma

Symptoms & Phenotypes for Merkel Cell Carcinoma

Human phenotypes related to Merkel Cell Carcinoma:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 merkel cell skin cancer 58 31 obligate (100%) Obligate (100%) HP:0030447
2 cellular immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005374
3 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
4 skin nodule 58 31 frequent (33%) Frequent (79-30%) HP:0200036
5 erythematous macule 58 31 frequent (33%) Frequent (79-30%) HP:0025475
6 chronic noninfectious lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002730
7 regional abnormality of skin 58 31 frequent (33%) Frequent (79-30%) HP:0011356
8 erythematous plaque 58 31 frequent (33%) Frequent (79-30%) HP:0025474
9 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
10 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
11 multiple myeloma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006775
12 carcinoid tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0100570
13 lymphoid leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005526
14 abnormal brain fdg positron emission tomography 58 31 very rare (1%) Very rare (<4-1%) HP:0012658
15 brain neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0030692
16 neoplasm of the outer ear 58 31 very rare (1%) Very rare (<4-1%) HP:0040095
17 pain 58 Excluded (0%)

MGI Mouse Phenotypes related to Merkel Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ATOH1 CD274 ENO2 HAVCR2 KDR KIT
2 cellular MP:0005384 10.22 ATOH1 CD274 ENO2 HAVCR2 KDR KIT
3 mortality/aging MP:0010768 10.2 ATOH1 CD274 CHGA HAVCR2 KDR KIT
4 growth/size/body region MP:0005378 10.18 CHGA ENO2 HAVCR2 KDR KIT KRT8
5 nervous system MP:0003631 10.1 ATOH1 CHGA ENO2 KDR KIT MAP2
6 no phenotypic analysis MP:0003012 9.81 ATOH1 CD274 CHGA KDR KIT NKX2-1
7 normal MP:0002873 9.61 ATOH1 KDR KIT NKX2-1 PAX5 PTPRC
8 respiratory system MP:0005388 9.23 ATOH1 ENO2 KDR KIT NKX2-1 PDCD1

Drugs & Therapeutics for Merkel Cell Carcinoma

Drugs for Merkel Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
3
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
4
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
5
lanreotide Approved Phase 2 108736-35-2
6
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Cemiplimab Approved, Investigational Phase 1, Phase 2 1801342-60-8
9
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
10
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
11
Pertuzumab Approved Phase 1, Phase 2 380610-27-5, 145040-37-5 2540
12
Etoposide Approved Phase 2 33419-42-0 36462
13
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
14
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
15
Oblimersen Experimental, Investigational Phase 2 190977-41-4
16
Mitoguazone Investigational Phase 2 459-86-9
17
Tremelimumab Investigational Phase 1, Phase 2 745013-59-6
18 Interleukin-12 Phase 2
19 Protein Kinase Inhibitors Phase 2
20 Imatinib Mesylate Phase 2 220127-57-1 123596
21 Folic Acid Antagonists Phase 2
22 Angiopeptin Phase 2
23 topoisomerase I inhibitors Phase 2
24 Liver Extracts Phase 1, Phase 2
25 Ado-trastuzumab emtansine Phase 1, Phase 2
26 Iron-Dextran Complex Phase 1, Phase 2
27 Poly ICLC Phase 1, Phase 2
28 Radiopharmaceuticals Phase 2
29 Edotreotide Phase 2
30 Etoposide phosphate Phase 2
31 Mitogens Phase 2
32 Endothelial Growth Factors Phase 2
33 Antibodies, Blocking Phase 1, Phase 2
34 Antibodies, Bispecific Phase 1, Phase 2
35 Anti-HIV Agents Phase 1, Phase 2
36 Anti-Infective Agents Phase 1, Phase 2
37 Antiviral Agents Phase 1, Phase 2
38 Anti-Retroviral Agents Phase 1, Phase 2
39 Analgesics, Non-Narcotic Phase 1, Phase 2
40 interferons Phase 1, Phase 2
41 Interferon-beta Phase 1, Phase 2
42 Interleukin-2 Phase 1, Phase 2
43 Analgesics Phase 1, Phase 2
44
Serine Investigational, Nutraceutical Phase 1, Phase 2 56-45-1 5951
45
Sargramostim Approved, Investigational Phase 1 123774-72-1, 83869-56-1
46
Pasireotide Approved Phase 1 396091-73-9 9941444
47
Vinorelbine Approved, Investigational Phase 1 71486-22-1 60780 44424639
48
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
49
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
50
Everolimus Approved Phase 1 159351-69-6 6442177 70789204

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-Blinded, Placebo-Controlled, Phase 3 Trial of Adjuvant Avelumab (Anti-PDL-1 Antibody) in Merkel Cell Carcinoma Patients With Lymph Node Metastases Recruiting NCT03271372 Phase 3 Avelumab
2 STAMP: Surgically Treated Adjuvant Merkel Cell Carcinoma With Pembrolizumab, a Phase III Trial Recruiting NCT03712605 Phase 3
3 A Phase 3 Open-label, Single Arm Study to Evaluate the Safety and Efficacy of Pembrolizumab (MK-3475) as First Line Therapy in Participants With Advanced Merkel Cell Carcinoma (KEYNOTE-913) Active, not recruiting NCT03783078 Phase 3 Pembrolizumab (MK-3475)
4 A Phase II Study of Intratumoral Injection of Interleukin-12 Plasmid and in Vivo Electroporation in Patients With Merkel Cell Carcinoma Completed NCT01440816 Phase 2
5 MLN0128 in Recurrent/Metastatic Merkel Cell Carcinoma Completed NCT02514824 Phase 1, Phase 2 MLN0128
6 A Phase II Study of G3139 (Genasense ™) in Patients With Merkel Cell Carcinoma Completed NCT00079131 Phase 2
7 A Phase II Trial of STI-571/Imatinib (Gleevec®) (NSC-716051) in Neuroendocrine Carcinoma of the Skin (Merkel Cell Carcinoma) Completed NCT00068783 Phase 2 imatinib mesylate
8 A Phase II Trial of Cyclophosphamide, Methotrexate and 5-Fluorouracil (CMF) in Neuroendocrine Carcinoma of the Skin (Merkel Cell Carcinoma) Completed NCT00003549 Phase 2 CMF regimen;cyclophosphamide;fluorouracil;methotrexate
9 Traitement Des Carcinomes à Cellules de Merkel inopérables et/ou métastatiques Par Analogue de la Somatostatine - Etude Nationale Multicentrique Mono-bras de Phase II. Completed NCT02351128 Phase 2 Lanreotide
10 A Phase II Clinical Trial of Irinotecan (CPT-11) in Patients With Advanced High Grade Neuroendocrine Tumors Completed NCT00004922 Phase 2 irinotecan hydrochloride
11 A Phase 2, Multi-Center, Open Label Study to Evaluate Adenoviral p53 (Ad-p53) in Combination With Immune Checkpoint Inhibitor Therapy in Patients With Recurrent or Metastatic Head and Neck Squamous Cell Carcinoma and Other Tumors Approved for Anti-PD-1 or Anti-PD-L1 Therapy Recruiting NCT03544723 Phase 2 Ad-p53
12 QUILT-3.063: A Phase 2 Study of Combination Therapy With an IL-15 Superagonist (N-803), Off-the-shelf CD16-targeted Natural Killer Cells (haNK), and Avelumab Without Cytotoxic Chemotherapy in Subjects With Merkel Cell Carcinoma (MCC) That Has Progressed on or After Treatment With a Checkpoint Inhibitor. Recruiting NCT03853317 Phase 2
13 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Recruiting NCT02978625 Phase 2
14 A Phase 2 Study of INCMGA00012 in Participants With Metastatic Merkel Cell Carcinoma (POD1UM-201) Recruiting NCT03599713 Phase 2 Retifanlimab
15 A Phase II Study of Palliative Radiation Therapy and Anti-PD-1/PD-L1 Checkpoint Blockade in Patients With Metastatic Merkel Cell Carcinoma Recruiting NCT03988647 Phase 2 Pembrolizumab
16 Merkel Cell Carcinoma, Cutaneous Squamous Cell Carcinoma, or Other Advanced Solid Tumors: A Phase 1b/2 Study of Cavrotolimod Combined With Pembrolizumab or Cemiplimab Recruiting NCT03684785 Phase 1, Phase 2 Cavrotolimod;Cavrotolimod
17 A Randomised, Placebo-controlled, Phase II Trial of Adjuvant Avelumab in Patients With Stage I-III Merkel Cell Carcinoma Recruiting NCT04291885 Phase 2 Avelumab;Placebo
18 A Phase 2, Randomized, Multi-institutional Study of Nivolumab and Ipilimumab Versus Nivolumab, Ipilimumab and Stereotactic Body Radiation Therapy for Metastatic Merkel Cell Carcinoma Recruiting NCT03071406 Phase 2 Nivolumab;Ipilimumab
19 A Phase Ib/II Study of Combination Avelumab With Peptide Receptor Radionuclide Therapy or Conventional Fractionated Radiotherapy in Patients With Metastatic Merkel Cell Carcinoma Recruiting NCT04261855 Phase 1, Phase 2 Avelumab
20 A Phase 2, Open-Label, Study of KRT-232 in Patients With p53 Wild-Type (p53WT) Merkel Cell Carcinoma (MCC) Who Have Failed Anti-PD-1 or Anti-PD-L1 Immunotherapy Recruiting NCT03787602 Phase 2 KRT-232
21 A Phase II, Open Label Study to Investigate the Efficacy and Safety of Domatinostat in Combination With Avelumab in Patients With Advanced Unresectable/Metastatic Merkel Cell Carcinoma Progressing on Anti-PD-(L)1 Antibody Therapy Recruiting NCT04393753 Phase 2 domatinostat in combination with avelumab
22 A Phase II Randomized Trial of Intralesional Talimogene Laherparepvec (TALIMOGENE LAHERPAREPVEC) With or Without Radiotherapy for Cutaneous Melanoma, Merkel Cell Carcinoma, or Other Solid Tumors Recruiting NCT02819843 Phase 2 TALIMOGENE LAHERPAREPVEC (TVEC)
23 Phase 1/2 Expansion Cohorts Trial of Intravenous Administration of TAEK-VAC-HerBy Vaccine Alone and in Combination With HER2- and PD-1/PD-L1 Antibodies in Patients With Advanced HER2-expressing Cancer Recruiting NCT04246671 Phase 1, Phase 2
24 A Phase 1/2 Study of In Situ Vaccination With Tremelimumab and IV Durvalumab (MEDI4736) Plus the Toll-like Receptor Agonist PolyICLC in Subjects With Advanced, Measurable, Biopsy-accessible Cancers Recruiting NCT02643303 Phase 1, Phase 2 Durvalumab;Tremelimumab;Poly ICLC
25 A Phase 1b/2a, Open Label Study to Evaluate Anti-tumor Efficacy and Safety of rhIL-7-hyFc (NT-I7) in Combination With Anti-PD-L1 (Atezolizumab) in Patients With Anti-PD-1/PD-L1 naïve or Relapsed/Refractory High-risk Skin Cancers Recruiting NCT03901573 Phase 1, Phase 2 NT-I7;atezolizumab
26 A Phase 1b/2a Two-Part, Open-Label, Multicenter Study to Evaluate the Safety and Pharmacokinetics of OC-001 as Monotherapy and in Combination With an Anti-PD-1/Anti-PD-L1 Antibody in Patients With Selected Locally Advanced or Metastatic Cancers Recruiting NCT04260802 Phase 1, Phase 2 OC-001;OC-001 in Combination
27 A Phase 2 Study to Evaluate the Efficacy and Safety of Adoptive Transfer of Autologous Tumor Infiltrating Lymphocytes in Patients With Advanced Solid Cancers Recruiting NCT03935893 Phase 2 Fludarabine + Cyclophosphamide combination
28 QUILT-3.055: A Phase IIb, Multicohort, Open-Label Study of Combination Immunotherapies in Patients Who Have Previously Received Treatment With PD-1/PD-L1 Immune Checkpoint Inhibitors Recruiting NCT03228667 Phase 2 N-803 + Pembrolizumab;N-803 + Nivolumab;N-803 + Atezolizumab;N-803 + Avelumab;N-803 + Durvalumab;N-803 + Pembrolizumab + PD-L1 t-haNK;N-803 + Nivolumab + PD-L1 t-haNK;N-803 + Atezolizumab + PD-L1 t-haNK;N-803 + Avelumab + PD-L1 t-haNK;N-803 + Durvalumab + PD-L1 t-haNK
29 Phase II Study Assessing the Effect of BK Specific CTL Lines Generated by Ex Vivo Expansion in Patients With BK Virus Infection and JC Virus Infection Recruiting NCT02479698 Phase 2
30 A Phase 1/2, Open-label, Multicenter, Dose Escalation and Dose Expansion Study of NKTR-262 in Combination With Bempegaldesleukin (NKTR-214) and in Combination With Bempegaldesleukin Plus Nivolumab in Patients With Locally Advanced or Metastatic Solid Tumor Malignancies Recruiting NCT03435640 Phase 1, Phase 2 NKTR-262;bempegaldesleukin;nivolumab
31 A Phase II, Non-Randomized, Open-Label, Single-center, Physician Sponsored Study to Determine the Safety and Effectiveness of Lu-177 DOTATOC in Adult Subjects With Somatostatin Receptor Expressing Pulmonary, Pheochromocytoma, paragangliomUnknown Primary, and Thymus Neuroendocrine Tumors (PUTNET) or Any Other Non-.GEP-NET. Recruiting NCT04276597 Phase 2 177Lu-DOTATOC
32 Prospective Randomized Trial of an Adjuvant Therapy of Completely Resected Merkel Cell Carcinoma (MCC) With Immune Checkpoint Blocking Antibodies (Nivolumab, Opdivo®; Ipilimumab (Yervoy®) Every 3 Weeks for 12 Weeks Versus Observation Active, not recruiting NCT02196961 Phase 2 Nivolumab
33 A Phase II, Open-Label, Multicenter Trial to Investigate the Clinical Activity and Safety of Avelumab (MSB0010718C) in Subjects With Merkel Cell Carcinoma Active, not recruiting NCT02155647 Phase 2 Avelumab
34 Cabozantinib in Recurrent/Metastatic Merkel Cell Carcinoma Active, not recruiting NCT02036476 Phase 2 Cabozantinib
35 A Phase II Efficacy Study of Chemo-Radiotherapy in PET Stage II and III Merkel Cell Carcinoma of the Skin Active, not recruiting NCT01013779 Phase 2 Carboplatin;Etoposide
36 A Randomized Phase II Study of Anti-PD1 Antibody [Pembrolizumab MK-3475] Alone Versus Anti-PD1 Antibody Plus Stereotactic Body Radiation Therapy in Advanced Merkel Cell Carcinoma Active, not recruiting NCT03304639 Phase 2
37 A Phase II Study of MK-3475 in Patients With Advanced Merkel Cell Carcinoma (MCC) Active, not recruiting NCT02267603 Phase 2
38 Phase 2 Study of aNK (Activated NK-92 Natural Killer Cells) Infusions in Combination With ALT-803 (IL-15) in Patients With Stage III (IIIB) or Stage IV Merkel Cell Carcinoma (MCC) Active, not recruiting NCT02465957 Phase 2
39 Study to Evaluate Cellular Adoptive Immunotherapy Using Polyclonal Autologous CD8+ Antigen-Specific T Cells for Metastatic Merkel Cell Carcinoma in Combination With MHC Class I Up-Regulation and the Anti-PD-L1 Antibody Avelumab Active, not recruiting NCT02584829 Phase 1, Phase 2 Avelumab
40 A Phase II, Single-Arm Open-Label Study of the Combination of Atezolizumab and Bevacizumab in Rare Solid Tumors Active, not recruiting NCT03074513 Phase 2 Atezolizumab
41 A Phase 1b/2 Multiple-Dose Study to Evaluate the Safety and Efficacy of XmAb18087 ± Pembrolizumab in Subjects With Advanced Merkel Cell Carcinoma or Extensive-stage Small Cell Lung Cancer (DUET-1-02) Protocol Not yet recruiting NCT04590781 Phase 1, Phase 2 XmAb18087 ± Pembrolizumab
42 A Phase I/IIa Study of Intra-tumoral BT-001 (TG6030) Administered Alone and in Combination With Pembrolizumab in Patients With Cutaneous or, Subcutaneous Lesions or Easily Injectable Lymph Nodes of Metastatic/Advanced Solid Tumors. Not yet recruiting NCT04725331 Phase 1, Phase 2
43 Phase II Study of the Tumor-targeting Human F16IL2 Monoclonal Antibody-cytokine Fusion Protein in Combination With Paclitaxel in Patients With Metastatic Merkel Cell Carcinoma Terminated NCT02054884 Phase 2 Arm A: F16IL2 in combination with paclitaxel;Arm B: Paclitaxel
44 Viral Oncoprotein Targeted Autologous T Cell Therapy for Merkel Cell Carcinoma Terminated NCT01758458 Phase 1, Phase 2
45 Phase II Open-Label Trial of Ipilimumab for Metastatic Merkel Cell Carcinoma Withdrawn NCT01913691 Phase 2 Ipilimumab
46 Phase II Study of Antineoplastons A10 and AS2-1 in Patients With Metastatic or Incurable Neuroendocrine Tumors Withdrawn NCT00003514 Phase 2 antineoplaston A10;antineoplaston AS2-1
47 NANT Merkel Cell Carcinoma (MCC) Vaccine: Combination Immunotherapy in Subjects With MCC Who Have Progressed on or After Anti-programmed Death-ligand 1 (PD-L1) Therapy Withdrawn NCT03167164 Phase 1, Phase 2 Capecitabine;Cisplatin;Cyclophosphamide;5-fluorouracil;Leucovorin;nab-Paclitaxel;omega-3-acid ethyl esters
48 A Phase I, Open Label, Single Arm, Single Centre Study to Evaluate Mechanism of Action of Talimogene Laherparepvec (T-VEC) in Locally Advanced Non-melanoma Skin Cancer Unknown status NCT03458117 Phase 1
49 A Phase I, Open-Label, Dose Escalation Study of Daily Dosing With BB-10901 Completed NCT00346385 Phase 1 BB-10901
50 A Proof-of-Concept Clinical Trial of Intratumoral Injection of GLA-SE, a Toll-like Receptor-4 Agonist, in Patients With Merkel Cell Carcinoma Completed NCT02035657 Phase 1

Search NIH Clinical Center for Merkel Cell Carcinoma

Genetic Tests for Merkel Cell Carcinoma

Anatomical Context for Merkel Cell Carcinoma

MalaCards organs/tissues related to Merkel Cell Carcinoma:

40
Skin, Lymph Node, T Cells, Pancreas, Brain, Thyroid, Kidney

Publications for Merkel Cell Carcinoma

Articles related to Merkel Cell Carcinoma:

(show top 50) (show all 3049)
# Title Authors PMID Year
1
Merkel cell carcinoma: lack of KIT positivity and implications for the use of imatinib mesylate. 61 54
19276970 2009
2
Metastatic Merkel cell carcinoma with positive expression of thyroid transcription factor-1--a case report. 54 61
19461245 2009
3
A malignant cutaneous neuroendocrine tumor with features of Merkel cell carcinoma and differentiating neuroblastoma. 54 61
19318809 2009
4
Frequent expression of glypican-3 in Merkel cell carcinoma: an immunohistochemical study of 55 cases. 61 54
18813128 2009
5
Merkel cell carcinoma within follicular cysts: report of two cases. 61 54
18988316 2008
6
MASH1: a useful marker in differentiating pulmonary small cell carcinoma from Merkel cell carcinoma. 54 61
18587322 2008
7
Expression of VEGF-A/C, VEGF-R2, PDGF-alpha/beta, c-kit, EGFR, Her-2/Neu, Mcl-1 and Bmi-1 in Merkel cell carcinoma. 61 54
18408656 2008
8
Silent mutations in KIT and PDGFRA and coexpression of receptors with SCF and PDGFA in Merkel cell carcinoma: implications for tyrosine kinase-based tumorigenesis. 61 54
18084259 2008
9
TdT expression in Merkel cell carcinoma: potential diagnostic pitfall with blastic hematological malignancies and expanded immunohistochemical analysis. 61 54
17885674 2007
10
RKIP does not contribute to MAP kinase pathway silencing in the Merkel Cell Carcinoma cell line UISO. 54 61
17958888 2007
11
Activation of the MAP kinase pathway induces apoptosis in the Merkel cell carcinoma cell line UISO. 61 54
17476292 2007
12
Expression of vascular endothelial growth factor receptor-2 in Merkel cell carcinoma. 54 61
17695419 2007
13
Merkel cell carcinoma metastasizing to the kidney mimicking primary neuroendocrine renal cancer. 61 54
17550389 2007
14
Merkel cell carcinoma: evaluation of KIT (CD117) expression and failure to demonstrate activating mutations in the C-KIT proto-oncogene - implications for treatment with imatinib mesylate. 61 54
17381803 2007
15
Merkel cell tumor in a trichilemmal cyst: collision or association? 54 61
17414443 2007
16
Absence of classical MAP kinase pathway signalling in Merkel cell carcinoma. 61 54
16498399 2006
17
Immunohistochemical distinction between merkel cell carcinoma and small cell carcinoma of the lung. 54 61
16625069 2006
18
Primary neuroendocrine carcinoma of the vagina with Merkel cell carcinoma phenotype. 61 54
16538063 2006
19
Tenascin-C expression in Merkel cell carcinoma lymph node metastasis. 61 54
16499659 2006
20
CD56 staining in Merkel cell carcinoma and natural killer-cell lymphoma: magic bullet, diagnostic pitfall, or both? 61 54
16115052 2005
21
Reliability of sentinel lymph node biopsy for regional staging of head and neck Merkel cell carcinoma. 54 61
16027284 2005
22
B-cell specific activation protein encoded by the PAX-5 gene is commonly expressed in merkel cell carcinoma and small cell carcinomas. 54 61
15832095 2005
23
Tenascin-C in primary Merkel cell carcinoma. 54 61
15735164 2005
24
KIT receptor (CD117) expression in Merkel cell carcinoma. 61 54
14996126 2004
25
Expression of adhesion molecules and cytokeratin 20 in merkel cell carcinomas. 54 61
15299198 2004
26
[Merkel cell carcinoma. Clinical and histological differential diagnosis, diagnostic approach and therapy]. 54 61
14634746 2003
27
Expression of MUC 1 and Ep-CAM in Merkel cell carcinomas: implications for immunotherapy. 61 54
12844224 2003
28
Somatostatin analogue scintigraphy in Merkel cell tumours. 54 61
12828740 2003
29
Diagnostic value of microtubule-associated protein-2 (MAP-2) for neuroendocrine neoplasms. 54 61
12605092 2003
30
Merkel cell carcinoma composed of small, intermediate and squamous cell foci showing mutually exclusive expression of neuroendocrine markers and cytokeratin 20. 54 61
12534628 2003
31
Merkel cell carcinomas: expression of S-phase kinase-associated protein 2 (Skp2), p27, and proliferation markers. 54 61
14586067 2003
32
CD117 (KIT receptor) expression in Merkel cell carcinoma. 61 54
12142606 2002
33
Immunostaining for cytokeratin 20 improves detection of micrometastatic Merkel cell carcinoma in sentinel lymph nodes. 54 61
12004304 2002
34
Primary undifferentiated small cell carcinoma (Merkel cell carcinoma) in a patient after heart transplantation--case report. 54 61
12476622 2002
35
Merkel cell carcinoma of the parotid gland associated with Warthin tumour: report of two cases. 54 61
11683932 2001
36
Merkel cell carcinoma can be distinguished from metastatic small cell carcinoma using antibodies to cytokeratin 20 and thyroid transcription factor 1. 61 54
11533085 2001
37
[Merkel cell carcinoma: a diagnostic and therapeutic challenge]. 61 54
11357530 2001
38
Immunostaining for thyroid transcription factor 1 and cytokeratin 20 aids the distinction of small cell carcinoma from Merkel cell carcinoma, but not pulmonary from extrapulmonary small cell carcinomas. 61 54
11175640 2001
39
Value of thyroid transcription factor-1 immunostaining in distinguishing small cell lung carcinomas from other small cell carcinomas. 54 61
10976695 2000
40
Thyroid transcription factor-1 is expressed in extrapulmonary small cell carcinomas but not in other extrapulmonary neuroendocrine tumors. 54 61
10757334 2000
41
Analysis of thyroid transcription factor-1 and cytokeratin 20 separates merkel cell carcinoma from small cell carcinoma of lung. 54 61
10728812 2000
42
Cytokeratin 20: a marker for diagnosing Merkel cell carcinoma. 54 61
10027519 1999
43
Pagetoid Merkel cell carcinoma: epidermal origin of the tumor. 54 61
9870679 1998
44
Mixed Merkel cell carcinoma and squamous cell carcinoma of the skin. 61 54
9810922 1998
45
Cytokeratin 20 immunoreactivity distinguishes Merkel cell (primary cutaneous neuroendocrine) carcinomas and salivary gland small cell carcinomas from small cell carcinomas of various sites. 54 61
9042291 1997
46
Cutaneous lymphoma-simulating Merkel cell carcinoma-molecular genetic demonstration of a clonal disease with divergent immunophenotypes. 61 54
8539236 1995
47
[Detection of somatostatin receptors in tumors in the area of the head and neck and their clinical importance]. 61 54
7908199 1994
48
Immunohistochemical and immunoelectron microscopic demonstration of chromogranin A in formalin-fixed tissue of Merkel cell carcinoma. 61 54
8432919 1993
49
High-grade Neuroendocrine Carcinomas of the Vulva: A Clinicopathologic Study of 16 Cases. 61
32826525 2021
50
Anterior Axillary Arch: An Anatomic Variant Every Surgeon Operating in the Axilla Should Be Aware of. 61
33285431 2021

Variations for Merkel Cell Carcinoma

ClinVar genetic disease variations for Merkel Cell Carcinoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3CA NM_006218.4(PIK3CA):c.1412C>T (p.Pro471Leu) SNV not provided 376359 rs1057519872 3:178928226-178928226 3:179210438-179210438

Cosmic variations for Merkel Cell Carcinoma:

9 (show top 50) (show all 2679)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122271260 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.422G>A p.R141H 17:7673802-7673802 12
2 COSM121875541 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.422G>A p.R141H 17:7673802-7673802 12
3 COSM142837551 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.742C>T p.R248W 17:7674221-7674221 12
4 COSM112253106 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.818G>A p.R273H 17:7673802-7673802 12
5 COSM142560553 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.625C>T p.R209W 17:7674221-7674221 12
6 COSM105619828 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.782+379G>A p.? 17:7673802-7673802 12
7 COSM106053434 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.742C>T p.R248W 17:7674221-7674221 12
8 COSM142559879 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.701G>A p.R234H 17:7673802-7673802 12
9 COSM112253879 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.742C>T p.R248W 17:7674221-7674221 12
10 COSM143156594 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.341G>A p.R114H 17:7673802-7673802 12
11 COSM142837073 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.818G>A p.R273H 17:7673802-7673802 12
12 COSM122734399 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.346C>T p.R116W 17:7674221-7674221 12
13 COSM93183975 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.742C>T p.R248W 17:7674221-7674221 12
14 COSM144650760 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.701G>A p.R234H 17:7673802-7673802 12
15 COSM106052890 TP53 skin,upper extremity,carcinoma,Merkel cell carcinoma c.818G>A p.R273H 17:7673802-7673802 12
16 COSM111758868 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.742C>T p.R248W 17:7674221-7674221 12
17 COSM143371145 TP53 skin,head neck,carcinoma,Merkel cell carcinoma c.625C>T p.R209W 17:7674221-7674221 12
18 COSM148659109 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
19 COSM151419212 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
20 COSM106808052 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3757C>G p.R1253G 19:11033308-11033308 12
21 COSM112774039 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
22 COSM140833474 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
23 COSM138930386 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
24 COSM148047428 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
25 COSM151244957 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
26 COSM151942079 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
27 COSM89651592 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
28 COSM131010966 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
29 COSM109727685 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
30 COSM111385260 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
31 COSM151620874 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
32 COSM151519071 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
33 COSM149458253 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
34 COSM151566865 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
35 COSM150568050 SMARCA4 skin,head neck,carcinoma,Merkel cell carcinoma c.3565C>G p.R1189G 19:11033308-11033308 12
36 COSM148971186 PIK3CA skin,head neck,carcinoma,Merkel cell carcinoma c.56G>A p.R19K 3:179198881-179198881 12
37 COSM87174055 PIK3CA skin,head neck,carcinoma,Merkel cell carcinoma c.56G>A p.R19K 3:179198881-179198881 12
38 COSM149315904 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.6661G>A p.E2221K 16:72796021-72796021 9
39 COSM149319963 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.6172C>T p.P2058S 16:72796510-72796510 9
40 COSM87292009 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.6172C>T p.P2058S 16:72796510-72796510 9
41 COSM102040469 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.7621C>T p.P2541S 16:72787913-72787913 9
42 COSM102040965 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.3919G>A p.E1307K 16:72796021-72796021 9
43 COSM87290688 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.6661G>A p.E2221K 16:72796021-72796021 9
44 COSM102042622 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.3430C>T p.P1144S 16:72796510-72796510 9
45 COSM87290208 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.10363C>T p.P3455S 16:72787913-72787913 9
46 COSM149314744 ZFHX3 skin,NS,carcinoma,Merkel cell carcinoma c.10363C>T p.P3455S 16:72787913-72787913 9
47 COSM85233566 YAP1 skin,NS,carcinoma,Merkel cell carcinoma c.380C>T p.S127F 11:102114202-102114202 9
48 COSM127994672 YAP1 skin,NS,carcinoma,Merkel cell carcinoma c.630G>C p.M210I 11:102162513-102162513 9
49 COSM128448593 YAP1 skin,NS,carcinoma,Merkel cell carcinoma c.380C>T p.S127F 11:102114202-102114202 9
50 COSM143036760 YAP1 skin,NS,carcinoma,Merkel cell carcinoma c.371G>C p.R124P 11:102114193-102114193 9

Copy number variations for Merkel Cell Carcinoma from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32219 1 34600000 44100000 Amplification MYCL Merkel cell carcinoma
2 77110 13 40100000 73300000 Deletion Merkel cell carcinoma
3 200959 5 63200000 102800000 Deletion Merkel cell carcinoma

Expression for Merkel Cell Carcinoma

Search GEO for disease gene expression data for Merkel Cell Carcinoma.

Pathways for Merkel Cell Carcinoma

GO Terms for Merkel Cell Carcinoma

Cellular components related to Merkel Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 PTPRC PDCD1 NCAM1 KIT CD274

Biological processes related to Merkel Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.63 TP53 PTPRC NCAM1 KRT8 KRT7 KDR
2 positive regulation of T cell proliferation GO:0042102 9.54 PTPRC HAVCR2 CD274
3 bone marrow development GO:0048539 9.4 TP53 PTPRC
4 positive regulation of transcription from RNA polymerase II promoter in response to stress GO:0036003 9.32 TP53 MUC1
5 mast cell chemotaxis GO:0002551 9.26 KIT CHGA
6 mast cell cytokine production GO:0032762 8.96 KIT CHGA
7 hematopoietic progenitor cell differentiation GO:0002244 8.92 TP53 PTPRC KIT KDR

Sources for Merkel Cell 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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