MCID: MRK001
MIFTS: 48

Merkel Cell Carcinoma malady

Rare diseases, Skin diseases, Endocrine diseases, Cancer diseases, Neuronal diseases categories

Summaries for Merkel Cell Carcinoma

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NIH Rare Diseases:41 Merkel cell carcinoma (mcc) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. it is typically red or violet in color. it is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. merkel cell polyomavirus has been detected in about 80% of the tumors tested. it is thought that this virus can cause somatic mutations leading to mcc when the immune system is weakened. other risk factors for developing mcc include ultraviolet radiation and being over 50 years of age. treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread. last updated: 10/6/2014

MalaCards based summary: Merkel Cell Carcinoma, also known as cutaneous neuroendocrine carcinoma, is related to glomus tumor and paraganglioma. An important gene associated with Merkel Cell Carcinoma is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways is Transcription factors in neurogenesis. The compounds chloroquine and mucicarmine have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and testes, and related mouse phenotypes are behavior/neurological and endocrine/exocrine gland.

Wikipedia:63 Merkel cell carcinoma is a rare and highly aggressive skin cancer, which, in most cases, is caused by... more...

Aliases & Classifications for Merkel Cell Carcinoma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 60UMLS, 43Novoseek, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet
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Merkel Cell Carcinoma, Aliases & Descriptions:

Name: Merkel Cell Carcinoma 9 41 11 47 60
Cutaneous Neuroendocrine Carcinoma 41 47
Trabecular Adenocarcinoma 9 60
Mcc 41 47
Carcinoma, Merkel Cell 41
 
Carcinoma Merkel Cell 43
Trabecular Carcinoma 9
Merkel Cell Cancer 41
Merkle Tumors 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
merkel cell carcinoma:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Adult; Age of death: elderly


External Ids:

Disease Ontology9 DOID:3965
NCIt38 C4068
SNOMED-CT55 29792007
Orphanet47 79140
ICD10 via Orphanet26 C44

Related Diseases for Merkel Cell Carcinoma

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

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1glomus tumor30.7SDHD, SYP
2paraganglioma30.4SDHD, SYP, KIT
3pheochromocytoma30.3SYP, ASCL1, SDHD
4neuroendocrine tumor29.9SDHD, ASCL1, SYP, NKX2-1, KRT20
5adenocarcinoma29.5MMP10, ASCL1, SYP, NKX2-1, KRT20
6neuroendocrine carcinoma10.8
7small cell carcinoma10.7
8chronic lymphocytic leukemia10.7
9leukemia10.7
10thyroiditis10.6
11basal cell carcinoma10.5
12melanoma10.5
13retinoblastoma10.5
14epidermodysplasia verruciformis10.5
15sarcoma10.5
16pulmonary blastoma10.4NKX2-1
17medulloepithelioma10.4SYP
18pancreatitis10.4
19dermatofibrosarcoma protuberans10.3
20hodgkin lymphoma10.3
21neuroectodermal tumor10.3
22spindle cell carcinoma10.3
23lambert-eaton myasthenic syndrome10.3
24sweat gland carcinoma10.3
25myeloma10.3
26bronchiolo-alveolar adenocarcinoma10.3NKX2-1, KRT20
27abrikosov's tumor10.3NKX2-1, KRT20
28adenosquamous carcinoma10.3NKX2-1, KRT20
29tubular adenocarcinoma10.3SYP, KRT20
30carney triad10.3KIT, SDHD
31mast cell neoplasm10.3MMP10
32follicular adenoma10.2KRT20, NKX2-1
33adrenal cortical adenoma10.2SYP, SDHD
34neurofibromatosis10.2SDHD, KIT
35salivary gland adenoid cystic carcinoma10.2KRT20, KIT
36hemangioma10.2SDHD, NKX2-1
37myelodysplastic syndrome10.2
38kaposi sarcoma10.2
39endometrial cancer10.2
40pityriasis rubra pilaris10.2
41ewing sarcoma10.2
42renal cell carcinoma10.2
43psoriatic arthritis10.2
44neuroblastoma10.2
45multiple myeloma10.2
46arthritis10.2
47b-cell lymphomas10.2
48insulinoma10.2
49skin disease10.2
50somatostatinoma10.2

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



Diseases related to merkel cell carcinoma

Symptoms for Merkel Cell Carcinoma

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Drugs & Therapeutics for Merkel Cell Carcinoma

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Drug clinical trials:

Search ClinicalTrials for Merkel Cell Carcinoma

Search NIH Clinical Center for Merkel Cell Carcinoma

Genetic Tests for Merkel Cell Carcinoma

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Anatomical Context for Merkel Cell Carcinoma

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MalaCards organs/tissues related to Merkel Cell Carcinoma:

31
Skin, Lymph node, Testes, Thyroid, Pancreas, Kidney, Lung, Bone marrow, Bone, Breast, T cells, B cells, Heart, Colon, Adrenal gland, Tonsil, Endothelial, Pituitary

Animal Models for Merkel Cell Carcinoma or affiliated genes

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MGI Mouse Phenotypes related to Merkel Cell Carcinoma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.6KIT, NKX2-1, ASCL1, POU4F3, SDHD
2MP:00053798.6ATOH1, SDHD, ASCL1, NKX2-1, KIT
3MP:00030128.5ATOH1, ASCL1, SYP, NKX2-1, KIT
4MP:00053818.5ATOH1, MST1, NKX2-1, KIT
5MP:00053888.4KIT, NKX2-1, ASCL1, MMP10, ATOH1
6MP:00053848.2ATOH1, SDHD, POU4F3, ASCL1, NKX2-1, KIT
7MP:00053788.0SDHD, POU4F3, ASCL1, MST1, NKX2-1, KIT
8MP:00036317.9ATOH1, SDHD, POU4F3, ASCL1, SYP, NKX2-1
9MP:00107687.8ATOH1, SDHD, POU4F3, ASCL1, NKX2-1, KIT
10MP:00028737.8KIT, ATOH1, SDHD, POU4F3, MMP10, ASCL1

Publications for Merkel Cell Carcinoma

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Articles related to Merkel Cell Carcinoma:

(show top 50)    (show all 654)
idTitleAuthorsYear
1
18F-FDG PET provides high-impact and powerful prognostic stratification in the staging of Merkel cell carcinoma: a 15-year institutional experience. (23753187)
2013
2
Aberrant Promoter Hypermethylation of RASSF Family Members in Merkel Cell Carcinoma. (24252868)
2013
3
Merkel cell carcinoma with sarcomatous differentiation: is it a poor prognostic factor? (23278615)
2013
4
Primary cutaneous neuroendocrine carcinoma, Merkel cell carcinoma. Case series 1991-2012. (24094946)
2013
5
Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma. (23621836)
2013
6
Emerging and mechanism-based therapies for recurrent or metastatic Merkel cell carcinoma. (23436166)
2013
7
A practical update of surgical management of merkel cell carcinoma of the skin. (23431473)
2013
8
Brief S2k guidelines--Merkel cell carcinoma. (23734895)
2013
9
Merkel cell carcinoma: interdisciplinary management of a rare disease. (23401779)
2013
10
Merkel cell carcinoma: diagnosis, management, and outcomes. (23629116)
2013
11
(68)Ga-DotaTATE PET-CT followed by Peptide Receptor Radiotherapy in combination with capecitabine in two patients with Merkel Cell Carcinoma. (23293710)
2012
12
BMI1 expression identifies subtypes of Merkel cell carcinoma. (23064620)
2012
13
Merkel cell carcinoma: a retrospective study on 48 cases and review of literature. (23024654)
2012
14
Primary tumor thickness as a prognostic factor in Merkel cell carcinoma: the next big thing? (22825775)
2012
15
Latest update on the clinical features and management of Merkel cell carcinoma. (22764461)
2012
16
A merkel cell carcinoma of the lacrimal gland. (21743373)
2012
17
Merkel cell carcinoma of the head and neck and associated second primary cancers: report of three cases. (23397790)
2012
18
Bcl-2 expression indicates better prognosis of Merkel cell carcinoma regardless of the presence of Merkel cell polyomavirus. (22976527)
2012
19
Merkel cell carcinoma presenting in a young patient as a forme fruste of variant epidermodysplasia verruciformis. (21839331)
2011
20
Merkel cell carcinoma in a 17-year-old boy, report of a highly aggressive fatal case and review of the literature. (22066041)
2011
21
KIT receptor activation by autocrine and paracrine stem cell factor stimulates growth of merkel cell carcinoma in vitro. (20857409)
2011
22
Merkel cell carcinoma: 27-year experience at the Peter MacCallum Cancer Centre. (20708847)
2011
23
Detection of Merkel cell polyomavirus (MCPyV) in Merkel cell carcinoma cell lines: cell morphology and growth phenotype do not reflect presence of the virus. (19739110)
2010
24
A phase II trial of imatinib mesylate in merkel cell carcinoma (neuroendocrine carcinoma of the skin): A Southwest Oncology Group study (S0331). (20019577)
2010
25
Complete spontaneous regression of metastatic merkel cell carcinoma: a case report and review of the literature. (20520522)
2010
26
Importance of sentinel lymph node biopsy in Merkel cell carcinoma. (21083715)
2010
27
Merkel cell carcinoma. (20943647)
2010
28
Primary merkel cell carcinoma clinically presenting as deep oedematous mass of the groin. (20696637)
2010
29
Merkel cell carcinoma of the inguinal lymph node with an unknown primary site. (19335694)
2009
30
Reactivation and mutation of newly discovered WU, KI, and Merkel cell carcinoma polyomaviruses in immunosuppressed individuals. (19090778)
2009
31
Merkel cell carcinoma of the vulva. (19417978)
2009
32
Clinical course and prognostic factors of Merkel cell carcinoma of the skin. (19438439)
2009
33
Expression of Notch-1 and alteration of the E-cadherin/beta-catenin cell adhesion complex are observed in primary cutaneous neuroendocrine carcinoma (Merkel cell carcinoma). (19396152)
2009
34
Merkel cell polyomavirus strains in patients with merkel cell carcinoma. (19523303)
2009
35
G3139 (Genasense) in patients with advanced merkel cell carcinoma. (19307957)
2009
36
Patients with Merkel cell carcinoma tumors < or = 1.0 cm in diameter are unlikely to harbor regional lymph node metastasis. (19581538)
2009
37
Merkel cell carcinoma with an unusual immunohistochemical profile. (20007099)
2009
38
Merkel cell carcinoma with an unusual immunohistochemical profile. (22073365)
2009
39
Silent mutations in KIT and PDGFRA and coexpression of receptors with SCF and PDGFA in Merkel cell carcinoma: implications for tyrosine kinase-based tumorigenesis. (18084259)
2008
40
Merkel cell carcinoma in situ arising in a trichilemmal cyst: a case report and literature review. (18806489)
2008
41
Treatment of in-transit metastases from Merkel cell carcinoma with isolated hyperthermic limb infusion. (19097544)
2008
42
Complete heart block and cardiac tamponade secondary to Merkel cell carcinoma cardiac metastases. (16466126)
2006
43
Combined effect of aloe-emodin and chemotherapeutic agents on the proliferation of an adherent variant cell line of Merkel cell carcinoma. (14654928)
2004
44
KIT receptor (CD117) expression in Merkel cell carcinoma. (14996126)
2004
45
CD56: a useful marker for diagnosing Merkel cell carcinoma. (12727026)
2003
46
Cutaneous undifferentiated small (Merkel) cell carcinoma, that developed synchronously with multiple actinic keratoses, squamous cell carcinomas and basal cell carcinoma. (12692363)
2003
47
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. (11175640)
2001
48
Diagnostic relevance of chromosomal in-situ hybridization in Merkel cell carcinoma: targeted interphase cytogenetic tumour analyses. (10064396)
1999
49
Merkel cells and Merkel cell carcinoma express the BCL-2 proto-oncogene. (8840159)
1996
50
CD44 expression in Merkel cell carcinoma may correlate with risk of metastasis. (7514617)
1994

Variations for Merkel Cell Carcinoma

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Expression for genes affiliated with Merkel Cell Carcinoma

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

Pathways for genes affiliated with Merkel Cell Carcinoma

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Pathways related to Merkel Cell Carcinoma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

Compounds for genes affiliated with Merkel Cell Carcinoma

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Compounds related to Merkel Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1chloroquine43 2 49 28 1213.7KIT, SYP
2mucicarmine439.2SYP, NKX2-1, KRT20
3b 723439.2SYP, NKX2-1, KRT20
4ribonucleic acid438.9NKX2-1, KIT, KRT20
5hematoxylin438.8KRT20, KIT, NKX2-1, SYP
6formaldehyde43 249.8KRT20, KIT, NKX2-1, SYP
7paraffin438.7SYP, NKX2-1, KIT, KRT20
8progesterone43 28 59 24 1212.6KRT20, KIT, NKX2-1, SYP
9retinoic acid43 249.6ASCL1, SYP, NKX2-1, KIT
10estrogen438.4KRT20, KIT, NKX2-1, SYP
11serine438.3MMP10, MST1, SYP, NKX2-1, KIT
12vegf437.9KRT20, KIT, SYP, MST1, MMP10
13tyrosine437.6ASCL1, MST1, SYP, NKX2-1, KIT, KRT20

GO Terms for genes affiliated with Merkel Cell Carcinoma

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

idNameGO IDScoreTop Affiliating Genes
1cerebral cortex GABAergic interneuron differentiationGO:00218929.8NKX2-1, ASCL1
2positive regulation of Notch signaling pathwayGO:00457479.6ASCL1, KIT
3positive regulation of neuron differentiationGO:00456669.5ASCL1, ATOH1
4cerebral cortex developmentGO:00219879.4ASCL1, ATOH1
5inner ear morphogenesisGO:00424729.3POU4F3, ATOH1
6neuron migrationGO:00017649.2NKX2-1, ASCL1, ATOH1

Molecular functions related to Merkel Cell Carcinoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037008.8NKX2-1, ASCL1, POU4F3, ATOH1
2sequence-specific DNA bindingGO:00435658.5NKX2-1, ASCL1, POU4F3, ATOH1

Products for genes affiliated with Merkel Cell Carcinoma

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Sources for Merkel Cell Carcinoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet